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IMAI KOHSUKE  今井 耕輔

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IMAI Kohsuke  今井 耕輔

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Researcher Number 90332626
Other IDs
Affiliation (Current) 2025: 防衛医科大学校(医学教育部医学科進学課程及び専門課程、動物実験施設、共同利用研究施設、病院並びに防衛, 小児科学, 教授
2025: 東京科学大学, その他の部局等, 非常勤講師
Affiliation (based on the past Project Information) *help 2024: 防衛医科大学校(医学教育部医学科進学課程及び専門課程、動物実験施設、共同利用研究施設、病院並びに防衛, 小児科学, 教授
2022 – 2023: 東京医科歯科大学, 大学院医歯学総合研究科, 非常勤講師
2016 – 2021: 東京医科歯科大学, 大学院医歯学総合研究科, 寄附講座准教授
2012 – 2016: 東京医科歯科大学, 医歯(薬)学総合研究科, 准教授
2011: 東京医科歯科大学, 大学院・医歯学総合研究科, 准教授 … More
2011: 東京医科歯科大学, 大学院医歯学総合研究科, 寄附講座准教授
2010: 防衛医科大学校(医学教育部医学科進学課程及び専門課程、動物実験施設、共同利用研究, 病院, 准教授
2010: 防衛医科大学校, 病院, 准教授 Less
Review Section/Research Field
Principal Investigator
Basic Section 52050:Embryonic medicine and pediatrics-related / Pediatrics
Except Principal Investigator
Pediatrics / Basic Section 52050:Embryonic medicine and pediatrics-related / Biological Sciences
Keywords
Principal Investigator
原発性免疫不全症 / 抗体産生不全症 / B細胞 / 免疫グロブリン / 免疫グロブリンクラススイッチ / エピジェネティクス / 免疫学的記憶 / 樹状細胞 / 分類不能型免疫不全症 / APRIL … More / メモリーB細胞 / エクソーム解析 / 遺伝子再構成 / DNAメチル化 / 形質細胞 / 免疫記憶 / 抗体産生 / DNA損傷修復 / DNA損傷修復 / クラススイッチ / ナイーブT細胞 / 骨髄異形成症候群 / GATA2 / NK細胞分化 / B細胞分化 / 樹状細胞分化 … More
Except Principal Investigator
発生・分化 / 移植・再生医療 / 遺伝子 / 免疫学 / 原発性免疫不全症 / 感染症 / PCR / 濾紙血 / SMN蛋白 / SMN1遺伝子 / 新生児マススクリーニング / PCR法 / SMN1 / 新生児スクリーニング / 脊髄性筋萎縮症 / 膠原病 / 膠原病学 / アレルギー / 小児免疫 / 原発性免疫不全症候群 / HLA-Flow / HLA / フローサイトメトリー / B細胞 / 免疫再構築 / キメリズム解析 / 造血細胞移植 / 細胞・組織 / 小児免疫・アレルギー・膠原病学 / マススクリーニング / 重症複合免疫不全症 Less
  • Research Projects

    (11 results)
  • Research Products

    (441 results)
  • Co-Researchers

    (38 People)
  •  Elucidation of human Immunological memory through the analysis of primary antibody deficiencyPrincipal Investigator

    • Principal Investigator
      今井 耕輔
    • Project Period (FY)
      2024 – 2026
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 52050:Embryonic medicine and pediatrics-related
    • Research Institution
      National Defense Medical College
  •  Spinal muscular atrophy

    • Principal Investigator
      Mizuno Tomoko
    • Project Period (FY)
      2019 – 2023
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 52050:Embryonic medicine and pediatrics-related
    • Research Institution
      Tokyo Medical and Dental University
  •  Elucidation of the mechanism of human antibody production by identifying causative genes for primary antibody deficiencyPrincipal Investigator

    • Principal Investigator
      IMAI Kohsuke
    • Project Period (FY)
      2018 – 2020
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 52050:Embryonic medicine and pediatrics-related
    • Research Institution
      Tokyo Medical and Dental University
  •  Elucidation of pathogenesis and identification of novel causative gene of primary immunodeficiency due to PIP3-related molecular abnormality.

    • Principal Investigator
      Nonoyama Shigeaki
    • Project Period (FY)
      2017 – 2019
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      National Defense Medical College
  •  Elucidation of human immunoglobulin class switch recombination mechanism by the identification of causative gene for hyper-IgM syndromePrincipal Investigator

    • Principal Investigator
      IMAI Kohsuke
    • Project Period (FY)
      2015 – 2017
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Tokyo Medical and Dental University
  •  Identification of novel differentiation factors in immune system using iPS cells derived from primary immunodeficiencies.

    • Principal Investigator
      NONOYAMA Shigeaki
    • Project Period (FY)
      2014 – 2016
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      National Defense Medical College
  •  重症複合免疫不全症に対する造血幹細胞移植後キメリズム病態の解明

    • Principal Investigator
      渡辺 恵理
    • Project Period (FY)
      2014 – 2015
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      The University of Tokyo
  •  Analysis of pathophysiology and identification of the causative gene(s) of primary immunodeficiency with B, NK, dendritic cell deficiencyPrincipal Investigator

    • Principal Investigator
      IMAI KOHSUKE
    • Project Period (FY)
      2011 – 2013
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Tokyo Medical and Dental University
  •  自己識別機構の破綻をきたす免疫不全症の病態解明と原因遺伝子同定

    • Principal Investigator
      野々山 恵章
    • Project Period (FY)
      2010 – 2011
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Review Section
      Biological Sciences
    • Research Institution
      National Defense Medical College
  •  Research for developing of a screening method for the congenital immunodeficiency by KREC/TREC to apply the method to the pathologic analysis

    • Principal Investigator
      NONOYAMA Shigeaki
    • Project Period (FY)
      2010 – 2012
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      National Defense Medical College
  •  Development of easy and cost-effective mass-screening of severe combined immunodeficiency using neonatal guthrie cards.

    • Principal Investigator
      OSHIMA Koichi
    • Project Period (FY)
      2009 – 2010
    • Research Category
      Grant-in-Aid for Young Scientists (B)
    • Research Field
      Pediatrics
    • Research Institution
      Kyoto University

All 2024 2023 2022 2021 2020 2019 2018 2017 2016 2015 2014 2013 2012 2011 2010 Other

All Journal Article Presentation Book Other

  • [Book] 日本臨床増刊号 原発性免疫不全症候群2020

    • Author(s)
      金兼弘和, 谷田けい, 今井耕輔
    • Total Pages
      8
    • Publisher
      日本臨床社
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Book] 遺伝学的検査・診断・遺伝カウンセリングの上手な進めかた2016

    • Author(s)
      今井耕輔
    • Total Pages
      232
    • Publisher
      診断と治療社
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Book] 標準免疫学2013

    • Author(s)
      今井耕輔(分担執筆)
    • Publisher
      医学書院
    • Data Source
      KAKENHI-PROJECT-23591561
  • [Book] 小児科診療2013

    • Author(s)
      今井耕輔
    • Total Pages
      9
    • Publisher
      PIDJと原発性免疫不全の新生児スクリーニング
    • Data Source
      KAKENHI-PROJECT-22390213
  • [Book] 臨床血液2012

    • Author(s)
      今井耕輔
    • Total Pages
      9
    • Publisher
      原発性免疫不全症の遺伝子診断・治療
    • Data Source
      KAKENHI-PROJECT-22390213
  • [Book] 診断と治療社2012

    • Author(s)
      今井耕輔(分担執筆)
    • Publisher
      NLRP12異常症.小児の発熱A to Z―診断・治療のTipsとPitfalls
    • Data Source
      KAKENHI-PROJECT-23591561
  • [Book] 臨床免疫・アレルギー科2012

    • Author(s)
      今井耕輔
    • Total Pages
      11
    • Publisher
      原発性免疫不全症の最新国際分類
    • Data Source
      KAKENHI-PROJECT-22390213
  • [Journal Article] Multiplex Real-Time PCR-Based Newborn Screening for Severe Primary Immunodeficiency and Spinal Muscular Atrophy in Osaka, Japan: Our Results after 3 Years2024

    • Author(s)
      Tomokazu Kimizu, Masatoshi Nozaki, Yousuke Okada, Akihisa Sawada, Misaki Morisaki, Hiroshi Fujita, Akemi Irie, Keiko Matsuda, Yuiko Hasegawa, Eriko Nishi, Nobuhiko Okamoto, Masanobu Kawai, Kohsuke Imai, Yasuhiro Suzuki, Kazuko Wada, Nobuaki Mitsuda, Shinobu Ida
    • Journal Title

      Genes (Basel)

      Volume: 15 Issue: 3 Pages: 314-314

    • DOI

      10.3390/genes15030314

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K08316
  • [Journal Article] Newborn screening for spinal muscular atrophy in Osaka -challenges in a Japanese pilot study.2023

    • Author(s)
      Kimizu T, Ida S, Oki K, et al.
    • Journal Title

      Brain Dev

      Volume: - Issue: 7 Pages: 363-371

    • DOI

      10.1016/j.braindev.2023.03.004

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19K08316, KAKENHI-PROJECT-23K07279
  • [Journal Article] 新生児マススクリーニングによる原発性免疫不全症の診断と治療2022

    • Author(s)
      谷田けい、今井耕輔
    • Journal Title

      医学のあゆみ

      Volume: 282 Pages: 378-384

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19K08316
  • [Journal Article] Functional analysis of novel A20 variants in patients with atypical inflammatory diseases2021

    • Author(s)
      Kadowaki S, Hashimoto K, Nishimura T, Kashimada K, Kadowaki T, Kawamoto N, Imai K, Okada S, Kanegane H, Ohnishi H.
    • Journal Title

      Arthritis Res Ther

      Volume: 23 Issue: 1 Pages: 52-52

    • DOI

      10.1186/s13075-021-02434-w

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K07814, KAKENHI-PROJECT-18K07840
  • [Journal Article] Hemophagocytic Lymphohistiocytosis in Children with Chronic Granulomatous Disease-Single-Center Experience from North India.2021

    • Author(s)
      Vignesh P, Loganathan SK, Sudhakar M, Chaudhary H, Rawat A, Sharma M, Shekar A, Vaiphei K, Kumar N, Sachdeva MUS, Jindal AK, Suri D, Gupta A, Ray P, Imai K, Ohara O, Nonoyama S, Lau YL and Singh S.
    • Journal Title

      J Allergy Clin Immunol Pract,

      Volume: 9 Issue: 2 Pages: 771-782

    • DOI

      10.1016/j.jaip.2020.11.041

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20H03652, KAKENHI-PROJECT-18K07814
  • [Journal Article] Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings2021

    • Author(s)
      Imanaka Yusuke、Taniguchi Maki、Doi Takehiko、Tsumura Miyuki、Nagaoka Rie、Shimomura Maiko、Asano Takaki、Kagawa Reiko、Mizoguchi Yoko、Karakawa Shuhei、Arihiro Koji、Imai Kohsuke、Morio Tomohiro、Casanova Jean-Laurent、Puel Anne、Ohara Osamu、Kamei Katsuhiko、Kobayashi Masao、Okada Satoshi
    • Journal Title

      Journal of Clinical Immunology

      Volume: - Issue: 5 Pages: 975-986

    • DOI

      10.1007/s10875-021-00988-7

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-18K07814, KAKENHI-PROJECT-18KK0228, KAKENHI-PROJECT-19K17301, KAKENHI-PROJECT-21K15904, KAKENHI-PROJECT-21K15905
  • [Journal Article] Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT32021

    • Author(s)
      Tanita Kay、Sakura Fumiaki、Nambu Ryusuke、Tsumura Miyuki、Imanaka Yusuke、Ohnishi Hidenori、Kato Zenichiro、Pan Jie、Hoshino Akihiro、Suzuki Koji、Yasutomi Motoko、Umetsu Shuichiro、Okada Chizuru、Takagi Masatoshi、Imai Kohsuke、Ohara Osamu、Muise Alexo M.、Okada Satoshi、Morio Tomohiro、Kanegane Hirokazu
    • Journal Title

      Journal of Clinical Immunology

      Volume: - Issue: 4 Pages: 780-790

    • DOI

      10.1007/s10875-021-00975-y

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-18K07814, KAKENHI-PROJECT-18K07840, KAKENHI-PROJECT-18KK0228, KAKENHI-PROJECT-20J10721
  • [Journal Article] Progressive Massive Splenomegaly in an Adult Patient with Kabuki Syndrome Complicated with Immune Thrombocytopenic Purpura2021

    • Author(s)
      Mushino Toshiki、Hiroi Takayuki、Yamashita Yusuke、Suzaki Norihiko、Mishima Hiroyuki、Ueno Masaki、Kinoshita Akira、Minami Koichi、Imai Kohsuke、Yoshiura Ko-ichiro、Sonoki Takashi、Tamura Shinobu
    • Journal Title

      Intern. Med.

      Volume: 60 Issue: 12 Pages: 1927-1933

    • DOI

      10.2169/internalmedicine.6694-20

    • NAID

      130008052635

    • ISSN
      0918-2918, 1349-7235
    • Year and Date
      2021-06-15
    • Language
      English
    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K17868, KAKENHI-PROJECT-18K07814, KAKENHI-PROJECT-18K07850, KAKENHI-PROJECT-19K09993, KAKENHI-PROJECT-20K08718, KAKENHI-PROJECT-20K17405
  • [Journal Article] Correction to: Helicobacter cinaedi-Associated Refractory Cellulitis in Patients with X-Linked Agammaglobulinemia2021

    • Author(s)
      Inoue K, Sasaki S, Yasumi T, Imai K, Kusunoki T, Morio T, Kanegane H.
    • Journal Title

      J Clin Immunol

      Volume: 41 Issue: 4 Pages: 847-847

    • DOI

      10.1007/s10875-021-01015-5

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Journal Article] A case of autoimmune enteropathy with CTLA4 haploinsufficiency2021

    • Author(s)
      Miyazaki H, Hoshi N, Kohashi M, Tokunaga E, Ku Y, Takenaka H, Ooi M, Yamamoto N, Uemura S, Nishimura N, Iijima K, Jimbo K, Okano T, Hoshino A, Imai K, Kanegane H, Kobayashi I, Kodama Y.
    • Journal Title

      Intest Res

      Volume: - Issue: 1 Pages: 144-149

    • DOI

      10.5217/ir.2020.00041

    • NAID

      120007188939

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Journal Article] 【みんなで役立てよう 新生児スクリーニング検査】今後導入が予定・期待される新生児スクリーニング 重症原発性免疫不全症2021

    • Author(s)
      今井耕輔
    • Journal Title

      周産期医学

      Volume: 51 Pages: 264-270

    • Data Source
      KAKENHI-PROJECT-19K08316
  • [Journal Article] Correction to: Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT32021

    • Author(s)
      Tanita K, Sakura F, Nambu R, Tsumura M, Imanaka Y, Ohnishi H, Kato Z, Pan J, Hoshino A, Suzuki K, Yasutomi M, Umetsu S, Okada C, Takagi M, Imai K, Ohara O, Muise AM, Okada S, Morio T, Kanegane H.
    • Journal Title

      J Clin Immunol

      Volume: 41 Issue: 4 Pages: 791-794

    • DOI

      10.1007/s10875-021-01014-6

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Journal Article] Liver Abscess in Chronic Granulomatous Disease-Two Decades of Experience from a Tertiary Care Centre in North-West India2021

    • Author(s)
      Pilania RK, Rawat A, Vignesh P, Guleria S, Jindal AK, Das G, Suri D, Gupta A, Gupta K, Chan KW, Lau YL, Imai K, Singh S.
    • Journal Title

      J Clin Immunol

      Volume: 41 Issue: 3 Pages: 552-564

    • DOI

      10.1007/s10875-020-00938-9

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Journal Article] Induction therapy with rituximab for lupus nephritis due to prolidase deficiency2020

    • Author(s)
      Sato Satoshi、Ohnishi Takuma、Uejima Yoji、Furuichi Mihoko、Fujinaga Shuichiro、Imai Kohsuke、Nakamura Kimitoshi、Kawano Yutaka、Suganuma Eisuke
    • Journal Title

      Rheumatology

      Volume: - Issue: 10 Pages: e57-e59

    • DOI

      10.1093/rheumatology/keaa051

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Journal Article] High-throughput analysis revealed the unique immunoglobulin gene rearrangements in plasmacytoma-like post-transplant lymphoproliferative disorder2020

    • Author(s)
      Hoshino A, Nishimura A, Naruto T, Okano T, Matsumoto K, Okamoto K, Shintaku H, Tokoro S, Okamoto H, Wada T, Takagi M, Imai K, Kanegane H, Morio T
    • Journal Title

      Br J Haematol

      Volume: - Issue: 4

    • DOI

      10.1111/bjh.16583

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K07814, KAKENHI-PROJECT-17K17692
  • [Journal Article] Ruxolitinib treatment of a patient with steroid-dependent severe autoimmunity due to STAT1 gain-of-function mutation2020

    • Author(s)
      Moriya K, Suzuki T, Uchida N, Nakano T, Katayama S, Irie M, Rikiishi T, Niizuma H, Okada S, Imai K, Sasahara Y, Kure S
    • Journal Title

      Int J Hematol

      Volume: - Issue: 2 Pages: 258-262

    • DOI

      10.1007/s12185-020-02860-7

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K07814, KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-19K23819, KAKENHI-PROJECT-18KK0228
  • [Journal Article] Autosomal recessive complete STAT1 deficiency caused by compound heterozygous intronic mutations2020

    • Author(s)
      Sakata Sonoko、Tsumura Miyuki、Matsubayashi Tadashi、Karakawa Shuhei、Kimura Shunsuke、Tamaura Moe、Okano Tsubasa、Naruto Takuya、Mizoguchi Yoko、Kagawa Reiko、Nishimura Shiho、Imai Kohsuke、Le Voyer Tom、Casanova Jean-Laurent、Bustamante Jacinta、Morio Tomohiro、Ohara Osamu、Kobayashi Masao、Okada Satoshi
    • Journal Title

      International Immunology

      Volume: 32 Issue: 10 Pages: 663-671

    • DOI

      10.1093/intimm/dxaa043

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20K08158, KAKENHI-PROJECT-19K17301, KAKENHI-PROJECT-20K22780, KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-18K07814, KAKENHI-PROJECT-18KK0228
  • [Journal Article] Current Perspectives and Unmet Needs of Primary Immunodeficiency Care in Asia Pacific2020

    • Author(s)
      Leung D, Chua GT, Mondragon AV, Zhong Y, Nguyen-Ngoc-Quynh L, Imai K, Vignesh P, Suratannon N, Mao H, Lee WI, Kim YJ, Chan GCF, Liew WK, Huong LTM, Kanegane H, Muktiarti D, Zhao X, Santos-Ocampo FJ, Latiff AHA, Seger R, Ochs HD, Singh S, Lee PP, Lau YL.
    • Journal Title

      Front Immunol

      Volume: 11 Pages: 1605-1605

    • DOI

      10.3389/fimmu.2020.01605

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Journal Article] Hematopoietic Cell Transplantation for Chronic Granulomatous Disease in Japan2020

    • Author(s)
      Yanagimachi M, Kato K, Iguchi A, Sasaki K, Kiyotani C, Koh K, Koike T, Sano H, Shigemura T, Muramatsu H, Okada K, Inoue M, Tabuchi K, Nishimura T, Mizukami T, Nunoi H, Imai K, Kobayashi M, Morio T.
    • Journal Title

      Front Immunol

      Volume: 11 Pages: 1617-1617

    • DOI

      10.3389/fimmu.2020.01617

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K07814, KAKENHI-PROJECT-18K07847
  • [Journal Article] Inherited chromosomally integrated human herpesvirus‐6 in a patient with XIAP deficiency2020

    • Author(s)
      Inoue Kento、Miura Hiroki、Hoshino Akihiro、Kamiya Takahiro、Tanita Kay、Ohye Tamae、Park Myoung‐Ja、Yanagimachi Masakatsu、Takagi Masatoshi、Imai Kohsuke、Morio Tomohiro、Yoshikawa Tetsushi、Kanegane Hirokazu
    • Journal Title

      Transplant Infectious Disease

      Volume: - Issue: 5

    • DOI

      10.1111/tid.13331

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-17K17692, KAKENHI-PROJECT-19K07902, KAKENHI-PROJECT-18K07814
  • [Journal Article] Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity2020

    • Author(s)
      Okano Tsubasa、Imai Kohsuke、Naruto Takuya、Okada Satoshi、Yamashita Motoi、Yeh Tzu-wen、Ono Shintaro、Tanaka Keisuke、Okamoto Keisuke、Tanita Kay、Matsumoto Kazuaki、Toyofuku Etsushi、Kumaki-Matsumoto Eri、Okamura Miko、Ueno Hiroo、Ogawa Seishi、Ohara Osamu、Takagi Masatoshi、Kanegane Hirokazu、Morio Tomohiro
    • Journal Title

      Journal of Clinical Immunology

      Volume: 40 Issue: 5 Pages: 729-740

    • DOI

      10.1007/s10875-020-00798-3

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19H05656, KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-18K07814, KAKENHI-PROJECT-18KK0228
  • [Journal Article] Helicobacter cinaedi-Associated Refractory Cellulitis in Patients with X-Linked Agammaglobulinemia2020

    • Author(s)
      Inoue K, Sasaki S, Yasumi T, Imai K, Kusunoki T, Morio T, Kanegane H.
    • Journal Title

      J Clin Immunol

      Volume: 40 Issue: 8 Pages: 1132-1137

    • DOI

      10.1007/s10875-020-00830-6

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Journal Article] Disseminated fusariosis in a child after haploidentical hematopoietic stem cell transplantation.2020

    • Author(s)
      Hoshino A, Tokoro S, Akashi T, Inoue M, Takagi M, Imai K, Kanegane H, Muraosa Y, Kamei K, Morio T
    • Journal Title

      Pediatr Int

      Volume: 62 Issue: 3 Pages: 419-420

    • DOI

      10.1111/ped.14097

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K07814, KAKENHI-PROJECT-17K10099, KAKENHI-PROJECT-17K17692
  • [Journal Article] Prospective Study of Allogeneic Hematopoietic Stem Cell Transplantation with Post-Transplantation Cyclophosphamide and Antithymocyte Globulin from HLA-Mismatched Related Donors for Nonmalignant Diseases2020

    • Author(s)
      Osumi T、Yoshimura S、Sako M、Uchiyama T、Ishikawa T、Kawai T、Inoue E、Takimoto T、Takeuchi I、Yamada M、Sakamoto K、Yoshida K、Kimura Y、Matsukawa Y、Matsumoto K、Imadome K、Arai K、Deguchi T、Imai K、Yuza Y、Matsumoto K、Onodera M、Kanegane H、Tomizawa D、Kato M
    • Journal Title

      Biology of Blood and Marrow Transplantation

      Volume: 26 Issue: 11 Pages: e286-e291

    • DOI

      10.1016/j.bbmt.2020.08.008

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19K08312, KAKENHI-PROJECT-17H01592, KAKENHI-PROJECT-18K07807, KAKENHI-PROJECT-18K07814
  • [Journal Article] Immunophenotyping of A20 haploinsufficiency by multicolor flow cytometry2020

    • Author(s)
      Kadowaki, T. Ohnishi, H. Kawamoto, N. Kadowaki, S. Hori, T. Nishimura, K. Kobayashi, C. Shigemura, T. Ogata, S. Inoue, Y. Hiejima, E. Izawa, K. Matsubayashi, T. Matsumoto, K. Imai, K. Nishikomori, R. Ito, S. Kanegane, H. Fukao, T.
    • Journal Title

      Clinical Immunology

      Volume: 216 Pages: 108441-108441

    • DOI

      10.1016/j.clim.2020.108441

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19K08299, KAKENHI-PROJECT-20K16852, KAKENHI-PROJECT-18K07814
  • [Journal Article] Impact of graft-versus-host disease on the clinical outcome of allogeneic hematopoietic stem cell transplantation for non-malignant diseases2020

    • Author(s)
      Umeda K, Imai K, Yanagimachi M, Yabe H, Kobayashi M, Takahashi Y, Kajiwara M, Yoshida N, Cho Y, Inoue M, Hashii Y, Atsuta Y, Morio T
    • Journal Title

      Int J Hematol

      Volume: - Issue: 6 Pages: 869-876

    • DOI

      10.1007/s12185-020-02839-4

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K07814, KAKENHI-PROJECT-17H04233, KAKENHI-PROJECT-17K19600, KAKENHI-PROJECT-18H02690
  • [Journal Article] Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients.2020

    • Author(s)
      Mori M, Hira A, Yoshida K, Muramatsu H, Okuno Y, Shiraishi Y, Anmae M, Yasuda J, Tadaka S, Kinoshita K, Osumi T, Noguchi Y, Adachi S, Kobayashi R, Kawabata H, Imai K, Morio T, Tamura K, Takaori-Kondo A, Yamamoto M, Miyano S, Kojima S, Ito E, Ogawa S, Matsuo K, Yabe H, Yabe M, Takata M.
    • Journal Title

      Haematologica

      Volume: 105 Issue: 4 Pages: 1166-116

    • DOI

      10.3324/haematol.2019.245720

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18H04039, KAKENHI-PROJECT-18K07814
  • [Journal Article] Cytomegalovirus Laryngitis in Primary Combined Immunodeficiency Diseases2020

    • Author(s)
      Inoue Maiko、Isoda Takeshi、Yamashita Motoi、Tomoda Takahiro、Inoue Kento、Okano Tsubasa、Ohkawa Teppei、Endo Akifumi、Mitsuiki Noriko、Kamiya Takahiro、Yanagimachi Masakatsu、Yamamoto Kouhei、Inaba Yuichiro、Sasaki Toru、Takagi Masatoshi、Kanegane Hirokazu、Imai Kohsuke、Morio Tomohiro
    • Journal Title

      Journal of Clinical Immunology

      Volume: 41 Issue: 1 Pages: 243-247

    • DOI

      10.1007/s10875-020-00873-9

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20K17460, KAKENHI-PROJECT-18K07814, KAKENHI-PROJECT-18K15661
  • [Journal Article] APRIL-dependent lifelong plasmacyte maintenance and immunoglobulin production in humans2020

    • Author(s)
      Yeh Tzu-Wen、Okano Tsubasa、Naruto Takuya、Yamashita Motoi、Okamura Miko、Tanita Kay、Du Likun、Pan-Hammarstrom Qiang、Mitsuiki Noriko、Okada Satoshi、Kanegane Hirokazu、Imai Kohsuke、Morio Tomohiro
    • Journal Title

      Journal of Allergy and Clinical Immunology

      Volume: 146 Issue: 5 Pages: 1109-1120

    • DOI

      10.1016/j.jaci.2020.03.025

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-18K07814, KAKENHI-PROJECT-18KK0228
  • [Journal Article] DNA ligase IV deficiency identified by chance following vaccine-derived rubella virus infection.2020

    • Author(s)
      Matsumoto K, Hoshino A, Nishimura A, Kato T, Mori Y, Shimomura M, Naito C, Watanabe K, Hamazaki M, Mitsuiki N, Takagi M, Imai K, Nonoyama S, Kanegane H, Morio T.
    • Journal Title

      J Clin Immunol.

      Volume: 40 Issue: 8 Pages: 1187-1190

    • DOI

      10.1007/s10875-020-00831-5

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20H03652, KAKENHI-PROJECT-18K07814
  • [Journal Article] Impact of low-dose irradiation and in vivo T-cell depletion on hematopoietic stem cell transplantation for non-malignant diseases using fludarabine-based reduced-intensity conditioning2019

    • Author(s)
      Katsutsugu K、、Yabe H、Kato K、Adachi S、Atsuta Y、Morio T et al.
    • Journal Title

      Bone Marrow Transplantation

      Volume: 印刷中 Issue: 8 Pages: 1227-1236

    • DOI

      10.1038/s41409-018-0418-8

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-17H04110, KAKENHI-PROJECT-18K07814
  • [Journal Article] Fatal idiopathic pneumonia syndrome in Artemis deficiency2019

    • Author(s)
      Hayase Tomomi、Ikeda Takahiro、Yoshimoto Taichiro、Imai Kohsuke、Morimoto Akira
    • Journal Title

      Pediatrics International

      Volume: 61 Issue: 9 Pages: 929-931

    • DOI

      10.1111/ped.13951

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Journal Article] 特集 原発性免疫不全症候群-最近の話題 5.原発性免疫不全症候群の診断と遺伝子解析ネットワーク2019

    • Author(s)
      金兼 弘和、今井 耕輔
    • Journal Title

      小児科

      Volume: 60 Issue: 9 Pages: 1249-1256

    • DOI

      10.18888/sh.0000001007

    • ISSN
      0037-4121
    • Year and Date
      2019-08-01
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Journal Article] Prominent Dermal Langerhans Cells in an Omenn Syndrome Patient With a Novel Mutation in the IL2RG Gene2019

    • Author(s)
      Ibusuki Atsuko、Nishikawa Takuro、Hiraki Tsubasa、Okano Tsubasa、Imai Kohsuke、Kanegane Hirokazu、Ohnishi Hidenori、Kato Zenichiro、Fujii Kazuyasu、Tanimoto Akihide、Kawano Yoshifumi、Kanekura Takuro
    • Journal Title

      The Journal of Dermatology

      Volume: 46 Issue: 11 Pages: 1019-1023

    • DOI

      10.1111/1346-8138.15054

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K07814, KAKENHI-PROJECT-18K07840, KAKENHI-PROJECT-18K08272, KAKENHI-PROJECT-19K08249, KAKENHI-PROJECT-19K08777, KAKENHI-PROJECT-17K10099
  • [Journal Article] A deep intronic mutation of c.1166-285?T?>?G in SLC46A1 is shared by four unrelated Japanese patients with hereditary folate malabsorption (HFM)2019

    • Author(s)
      Tozawa Yusuke、Abdrabou Shimaa Said Mohamed Ali、Nogawa-Chida Natsuko、Nishiuchi Ritsuo、Ishida Toshiaki、Suzuki Yuichi、Sano Hideki、Kobayashi Ryoji、Kishimoto Kenji、Ohara Osamu、Imai Kohsuke、Naruto Takuya、Kobayashi Kunihiko、Ariga Tadashi、Yamada Masafumi
    • Journal Title

      Clinical Immunology

      Volume: 208 Pages: 108256-108256

    • DOI

      10.1016/j.clim.2019.108256

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K07814, KAKENHI-PROJECT-18K07873, KAKENHI-PROJECT-16K20871
  • [Journal Article] Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders2019

    • Author(s)
      Kashimada Ayako、Hasegawa Setsuko、Nomura Toshihiro、Shiraku Hiroshi、Moriyama Kengo、Suzuki Tomonori、Nakajima Keisuke、Mizuno Tomoko、Imai Kohsuke、Sugawara Yuji、Morio Tomohiro、Kumada Satoko、Takagi Masatoshi
    • Journal Title

      Brain and Development

      Volume: 41 Issue: 2 Pages: 150-157

    • DOI

      10.1016/j.braindev.2018.09.007

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Journal Article] Two Prenatal Cases of Hyper-IgE Syndrome2019

    • Author(s)
      Egawa Makiko、Imai Kohsuke、Taketani Yoko、Morio Tomohiro、Miyasaka Naoyuki
    • Journal Title

      Journal of Clinical Immunology

      Volume: 39 Issue: 1 Pages: 15-18

    • DOI

      10.1007/s10875-018-0588-6

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Journal Article] Gonadal failure among female patients after hematopoietic stem cell transplantation for non-malignant diseases2019

    • Author(s)
      Sutani Akito、Miyakawa Yuichi、Tsuji-Hosokawa Atsumi、Nomura Risa、Nakagawa Ryuichi、Nakajima Keisuke、Maru Mitsue、Aoki Yuki、Takasawa Kei、Takagi Masatoshi、Imai Kohsuke、Kashimada Kenichi、Morio Tomohiro
    • Journal Title

      Clinical Pediatric Endocrinology

      Volume: 28 Issue: 4 Pages: 105-112

    • DOI

      10.1297/cpe.28.105

    • NAID

      130007731285

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Journal Article] Long-Term Evaluation of Low-Dose Betamethasone for Ataxia Telangiectasia2019

    • Author(s)
      Hasegawa S, Kumada S, Tanuma N, Tsuji-Hosokawa A, Kashimada A, Mizuno T, Moriyama K, Sugawara Y, Shirai I, Miyata Y, Nishida H, Mashimo H, Hasegawa T, Hosokawa T, Hisakawa H, Uematsu M, Fujine A, Miyata R, Sakuma H, Kashimada K, Imai K, Morio T, Hayashi M, Mizutani S, Takagi M
    • Journal Title

      Pediatric Neurology

      Volume: 100 Pages: 60-66

    • DOI

      10.1016/j.pediatrneurol.2019.05.006

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Journal Article] Identification of autoantibodies using human proteome microarrays in patients with IPEX syndrome2019

    • Author(s)
      Hoshino Akihiro、Kanegane Hirokazu、Nishi Masanori、Tsuge Ikuya、Tokuda Kiriko、Kobayashi Ichiro、Imai Kohsuke、Morio Tomohiro、Takagi Masatoshi
    • Journal Title

      Clinical Immunology

      Volume: 203 Pages: 9-13

    • DOI

      10.1016/j.clim.2019.03.011

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K07814, KAKENHI-PROJECT-17K10099, KAKENHI-PROJECT-17K17692
  • [Journal Article] A synonymous splice site mutation in IL2RG gene causes late-onset combined immunodeficiency2019

    • Author(s)
      Yamashita M, Wakatsuki R, Kato T, Okano T, Yamanishi S, Mayumi N, Tanaka M, Ogura Y, Kanegane H, Nonoyama S, Imai K, Morio T
    • Journal Title

      Int J Hematol

      Volume: 109 Issue: 5 Pages: 603-611

    • DOI

      10.1007/s12185-019-02619-9

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K07814, KAKENHI-PROJECT-17K10099
  • [Journal Article] Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency2019

    • Author(s)
      Kumaki Eri、Tanaka Keisuke、Imai Kohsuke、Aoki-Nogami Yuki、Ishiguro Akira、Okada Satoshi、Kanegane Hirokazu、Ishikawa Fumihiko、Morio Tomohiro
    • Journal Title

      International Journal of Hematology

      Volume: 109 Issue: 4 Pages: 382-389

    • DOI

      10.1007/s12185-019-02614-0

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18K07814, KAKENHI-PROJECT-18KK0228, KAKENHI-PROJECT-16H05355, KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-17K10099
  • [Journal Article] Long-term outcome and chimerism in patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation: a retrospective nationwide survey2019

    • Author(s)
      Iguchi A, Cho Y, Yabe H, Kato S, Kato K, Hara J, Koh K, Takita J, Ishihara T, Inoue M, Imai K, Nakayama H, Hashii Y, Morimoto A, Atsuta Y, Morio T
    • Journal Title

      Int J Hematol

      Volume: 110 Issue: 3 Pages: 364-369

    • DOI

      10.1007/s12185-019-02686-y

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K07814, KAKENHI-PROJECT-17H04224, KAKENHI-PROJECT-18K19467
  • [Journal Article] Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients.2019

    • Author(s)
      Mori M, Hira A, Yoshida K, Muramatsu H, Okuno Y, Shiraishi Y, Anmae M, Yasuda J, Tadaka S, Kinoshita K, Osumi T, Noguchi Y, Adachi S, Kobayashi R, Kawabata H, Imai K, Morio T, Tamura K, Takaori-Kondo A, Yamamoto M, Miyano S, Kojima S, Ito E, Ogawa S, Matsuo K, Yabe H, Yabe M, Takata M.
    • Journal Title

      Haematologica.

      Volume: - Issue: 10 Pages: 1962-1973

    • DOI

      10.3324/haematol.2018.207241

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PLANNED-15H05909, KAKENHI-PROJECT-26221308, KAKENHI-PROJECT-18H04039, KAKENHI-PROJECT-17H04110, KAKENHI-PROJECT-17K07193, KAKENHI-PROJECT-18K07814, KAKENHI-PROJECT-19H05656
  • [Journal Article] Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects2018

    • Author(s)
      Schwab C, Gabrysch A, Olbrich P, Patiño V, Warnatz K, Wolff D, Hoshino A, Kobayashi M, Imai K, Takagi M, Dybedal I, Haddock JA, Sansom DM, Lucena JM, Seidl M, Schmitt-Graeff A, Reiser V, Emmerich F, Frede N, Bulashevska A, et al.
    • Journal Title

      J Allergy Clin Immunol

      Volume: 142 Issue: 6 Pages: 1932-1946

    • DOI

      10.1016/j.jaci.2018.02.055

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17K10099, KAKENHI-PROJECT-18K07814, KAKENHI-PROJECT-18KK0228, KAKENHI-PROJECT-16H05355
  • [Journal Article] Haploinsufficiency of A20 causes autoinflammatory and autoimmune disorders.2018

    • Author(s)
      Kadowaki T, Ohnishi H, Kawamoto N, Hori T, Nishimura K, Kobayashi C, Shigemura T, Ogata S, Inoue Y, Kawai T, Hiejima E, Takagi M, Imai K, Nishikomori R, Ito S, Heike T, Ohara O, Morio T, Fukao T, Kanegane H.
    • Journal Title

      J Allergy Clin Immunol

      Volume: 141 Issue: 4 Pages: 1485-1488

    • DOI

      10.1016/j.jaci.2017.10.039

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17K10099, KAKENHI-PROJECT-15K09640, KAKENHI-PROJECT-18K07814
  • [Journal Article] Hematopoietic Stem Cell Transplantation for Progressive Combined Immunodeficiency and Lymphoproliferation in Activated PI3Kδ Syndrome Type 1.2018

    • Author(s)
      Okano T, Imai K, Nonoyama S, et al.
    • Journal Title

      Journal of Allergy and Clinical Immunology

      Volume: 印刷中

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17H04233
  • [Journal Article] Flow cytometry-based diagnosis of primary immunodeficiency diseases2018

    • Author(s)
      Kanegane H, Hoshino A, Okano T, Yasumi T, Wada T, Takada H, Okada S, Yamashita M, Yeh TW, Nishikomori R, Takagi M, Imai K, Ochs HD, Morio T.
    • Journal Title

      Allergol. Int.

      Volume: 67 Issue: 1 Pages: 43-54

    • DOI

      10.1016/j.alit.2017.06.003

    • NAID

      130006322088

    • ISSN
      1323-8930, 1440-1592
    • Language
      English
    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17K10099, KAKENHI-PROJECT-16H05355, KAKENHI-PROJECT-15K09640, KAKENHI-PROJECT-15K09642, KAKENHI-PROJECT-15K09655, KAKENHI-PROJECT-16K15528
  • [Journal Article] Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations2018

    • Author(s)
      Leiding JW, Okada S, Hagin D, Abinun M, Shcherbina A, Balashov DN, Kim VHD, Ovadia A, Guthery SL, Pulsipher M, Lilic D, Devlin LA, Christie S, Depner M, Fuchs S, van Royen-Kerkhof A, et al.
    • Journal Title

      J Allergy Clin Immunol.

      Volume: 141 Issue: 2 Pages: 704-717

    • DOI

      10.1016/j.jaci.2017.03.049

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16H05355, KAKENHI-PROJECT-15K09640, KAKENHI-PROJECT-16K15528
  • [Journal Article] Autoinflammatory phenotypes in Aicardi-Goutieres syndrome with interferon upregulation and serological autoimmune features.2018

    • Author(s)
      Sugawara, Y., Imai, K., Kashimada, A., Moriyama, K., Baba, S., Nishikomori, R., Motegi, M., Takeuchi, Y. & Morio, T.
    • Journal Title

      J Allergy Clin Immunol

      Volume: 141 Issue: 3 Pages: 1135-1138

    • DOI

      10.1016/j.jaci.2017.10.019

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-15H04876, KAKENHI-PROJECT-15K09640
  • [Journal Article] Droplet Digital PCR-Based Chimerism Analysis for Primary Immunodeficiency Diseases2018

    • Author(s)
      Okano Tsubasa、Tsujita Yuki、Kanegane Hirokazu、Mitsui-Sekinaka Kanako、Tanita Kay、Miyamoto Satoshi、Yeh Tzu-Wen、Yamashita Motoi、Terada Naomi、Ogura Yumi、Takagi Masatoshi、Imai Kohsuke、Nonoyama Shigeaki、Morio Tomohiro
    • Journal Title

      Journal of Clinical Immunology

      Volume: 38 Issue: 3 Pages: 300-306

    • DOI

      10.1007/s10875-018-0497-8

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17H04233, KAKENHI-PROJECT-15K09640, KAKENHI-PROJECT-17K10099, KAKENHI-PROJECT-18K07814
  • [Journal Article] Comprehensive molecular diagnosis of Epstein-Barr virus-associated lymphoproliferative diseases using next-generation sequencing2018

    • Author(s)
      Ono S, Nakayama M, Kanegane H, Hoshino A, Shimodera S, Shibata H, Fujino H, Fujino T, Yunomae Y, Okano T, Yamashita M, Yasumi T, Izawa K, Takagi M, Imai K, Zhang K, Marsh R, Picard C, Latour S, Ohara O, et al.
    • Journal Title

      Int J Hematol

      Volume: 108 Issue: 3 Pages: 319-328

    • DOI

      10.1007/s12185-018-2475-6

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17K10099, KAKENHI-PROJECT-18K07814
  • [Journal Article] Type 1 diabetes mellitus associated with activated phosphatidylinositol 3-kinase delta syndrome, type 22018

    • Author(s)
      Nakagawa R, Takasawa K, Yeh TW, Imai K, Kashimada K, Morio T
    • Journal Title

      J Diabetes

      Volume: 5 Issue: 5 Pages: 421-422

    • DOI

      10.1111/1753-0407.12638

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-15K09640, KAKENHI-PROJECT-18K07814
  • [Journal Article] Hematopoietic stem cell transplantation for pulmonary alveolar proteinosis associated with primary immunodeficiency disease2018

    • Author(s)
      Tanaka-Kubota M, Shinozaki K, Miyamoto S, Yanagimachi M, Okano T, Mitsuiki N, Ueki M, Yamada M, Imai K, Takagi M, Agematsu K, Kanegane H, Morio T
    • Journal Title

      Int J Hematol

      Volume: 5 Issue: 5 Pages: 610-614

    • DOI

      10.1007/s12185-017-2375-1

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-15K09640, KAKENHI-PROJECT-17K10099, KAKENHI-PROJECT-18K07814
  • [Journal Article] Enhanced AKT Phosphorylation of Circulating B Cells in Patients With Activated PI3Kδ Syndrome2018

    • Author(s)
      Asano Takaki、Okada Satoshi、Tsumura Miyuki、Yeh Tzu-Wen、Mitsui-Sekinaka Kanako、Tsujita Yuki、Ichinose Youjiro、Shimada Akira、Hashimoto Kunio、Wada Taizo、Imai Kohsuke、Ohara Osamu、Morio Tomohiro、Nonoyama Shigeaki、Kobayashi Masao
    • Journal Title

      Frontiers in Immunology

      Volume: 9 Pages: 568-568

    • DOI

      10.3389/fimmu.2018.00568

    • NAID

      120006473827

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17H04233, KAKENHI-PROJECT-15K09640, KAKENHI-PROJECT-17K10112, KAKENHI-PROJECT-18K07814, KAKENHI-PROJECT-16H05355
  • [Journal Article] Clinical and molecular features of X-linked hyper IgM syndrome - An experience from North India2018

    • Author(s)
      Rawat Amit、Mathew Babu、Pandiarajan Vignesh、Jindal Ankur、Sharma Madhubala、Suri Deepti、Gupta Anju、Goel Shubham、Karim Adil、Saikia Biman、Minz Ranjana W.、Imai Kohsuke、Nonoyama Shigeaki、Ohara Osamu、Giliani Silvia Clara、Notarangelo Luigi D.、Chan Koon-Wing、Lau Yu-Lung、Singh Surjit
    • Journal Title

      Clinical Immunology

      Volume: 195 Pages: 59-66

    • DOI

      10.1016/j.clim.2018.07.013

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Journal Article] Hematopoietic cell transplantation for asymptomatic X-linked lymphoproliferative syndrome type 12018

    • Author(s)
      Tamura A, Uemura S, Yamamoto N, Saito A, Kozaki A, Kishimoto K, Ishida T, Hasegawa D, Hiroki H, Okano T, Imai K, Morio T, Kanegane H, Kosaka Y.
    • Journal Title

      Allergy Asthma Clin Immunol

      Volume: 14 Issue: 1 Pages: 82-82

    • DOI

      10.1186/s13223-018-0306-1

    • NAID

      120006818739

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-17K10099, KAKENHI-PROJECT-18K07814
  • [Journal Article] Allogeneic Hematopoietic Stem Cell Transplantation for Leukocyte Adhesion Deficiency2018

    • Author(s)
      Horikoshi Y, Umeda K, Imai K, Yabe H, Sasahara Y, Watanabe K, Ozawa Y, Hashii Y, Kurosawa H, Nonoyama S, Morio T
    • Journal Title

      J Pediatr Hematol Oncol

      Volume: 40 Issue: 2 Pages: 137-140

    • DOI

      10.1097/mph.0000000000001028

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-15K09640, KAKENHI-PROJECT-17H04233
  • [Journal Article] Are naive T cells and class-switched memory (IgD- CD27+) B cells not essential for establishment and maintenance of pregnancy? Insights from a case of common variable immunodeficiency with pregnancy.2018

    • Author(s)
      Shigeta Naoya、Nakamura Hitomi、Kumasawa Keiichi、Imai Kohsuke、Saito Shigeru、Sakaguchi Shimon、Kimura Tadashi
    • Journal Title

      Medical Hypotheses

      Volume: 121 Pages: 36-41

    • DOI

      10.1016/j.mehy.2018.09.014

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K07814, KAKENHI-PROJECT-16H06295
  • [Journal Article] Clinical and Immunological Characterization of ICF Syndrome in Japan2018

    • Author(s)
      Kamae C, Imai K, Kato T, Okano T, Honma K, Nakagawa N, Yeh TW, Noguchi E, Ohara A, Shigemura T, Takahashi H, Takakura S, Hayashi M, Honma A, Watanabe S, Shigemori T, Ohara O, Sasaki H, Kubota T, Morio T, et al.
    • Journal Title

      J Clin Immunol

      Volume: 38 Issue: 8 Pages: 927-937

    • DOI

      10.1007/s10875-018-0559-y

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17K10099, KAKENHI-PROJECT-18K07814, KAKENHI-PROJECT-17H04233
  • [Journal Article] Hematopoietic Stem Cell Transplantation for Progressive Combined Immunodeficiency and Lymphoproliferation in Activated PI3K <delta> Syndrome Type 12018

    • Author(s)
      Okano T, Imai K, ..., Nonoyama S, Morio T. et al.
    • Journal Title

      J Allergy Clin Immunol

      Volume: 印刷中 Issue: 1 Pages: 266-275

    • DOI

      10.1016/j.jaci.2018.04.032

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K09640, KAKENHI-PROJECT-17K10099, KAKENHI-PROJECT-18K07814, KAKENHI-PROJECT-18K07818, KAKENHI-PLANNED-15H05909, KAKENHI-PROJECT-19H05656, KAKENHI-PROJECT-17H04233
  • [Journal Article] Intravenous immunoglobulin (IVIG) efficiency in women with common variable immunodeficiency (CVID) decreases significantly during pregnancy2018

    • Author(s)
      Egawa M, Kanegane H, Imai K, Morio T, Miyasaka N
    • Journal Title

      J Matern Fetal Neonatal Med

      Volume: 印刷中 Issue: 18 Pages: 3092-3096

    • DOI

      10.1080/14767058.2018.1455824

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-15K09640, KAKENHI-PROJECT-18K07814
  • [Journal Article] High frequencies of asymptomatic Epstein-Barr virus viremia in affected and unaffected individuals with CTLA4 mutations.2018

    • Author(s)
      Hoshino A, Tanita K, Kanda K, Imadome K, Shikama Y, Yasumi T, Imai K, Takagi M, Morio T, Kanegane H.
    • Journal Title

      Clin Immunol

      Volume: 195 Pages: 45-48

    • DOI

      10.1016/j.clim.2018.07.012

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17K10099, KAKENHI-PROJECT-18K07814, KAKENHI-PROJECT-17K17692
  • [Journal Article] A Severe Anaphylactic Reaction Associated with IgM-Class Anti-Human IgG Antibodies in a Hyper-IgM Syndrome Type 2 Patient2018

    • Author(s)
      Tsujita Y, Imai K, Honma K, Kamae C, Horiuchi T, Nonoyama S
    • Journal Title

      J Clin Immunol

      Volume: 38 Issue: 1 Pages: 144-148

    • DOI

      10.1007/s10875-017-0466-7

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-15K09640, KAKENHI-PROJECT-17H04233
  • [Journal Article] Genetic heterogeneity of uncharacterized childhood autoimmune diseases with lymphoproliferation.2018

    • Author(s)
      Takagi M, Hoshino A, Yoshida K, Ueno H, Imai K, Piao J, Kanegane H, Yamashita M, Okano T, Muramatsu H, Okuno Y, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Ogawa S, Hayashi Y, Kojima S, Morio T.
    • Journal Title

      Pediatr Blood Cancer.

      Volume: 65 Issue: 2

    • DOI

      10.1002/pbc.26831

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-17K10099, KAKENHI-PROJECT-17K10130, KAKENHI-PROJECT-15K09640, KAKENHI-PLANNED-15H05909
  • [Journal Article] Peripheral blood lymphocyte subset repertoires are biased and reflect clinical features in patients with dermatomyositis.2018

    • Author(s)
      Sasaki H, Takamura A, Kawahata K, Takashima T, Imai K, Morio T, Kohsaka H
    • Journal Title

      Scandinavian journal of rheumatology

      Volume: 5 Issue: 3 Pages: 1-5

    • DOI

      10.1080/03009742.2018.1530371

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16K09919, KAKENHI-PROJECT-18K07814
  • [Journal Article] Human AK2 links intracellular bioenergetic redistribution to the fate of hematopoietic progenitors2018

    • Author(s)
      Oshima Koichi、Watanabe Akira、Nakahata Tatsutoshi、Saito Megumu K. et al.
    • Journal Title

      Biochemical and Biophysical Research Communications

      Volume: 497 Issue: 2 Pages: 719-725

    • DOI

      10.1016/j.bbrc.2018.02.139

    • NAID

      120006466601

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17KT0108, KAKENHI-PROJECT-17K12900, KAKENHI-PROJECT-16H05194, KAKENHI-PROJECT-15H05581, KAKENHI-PROJECT-15J06514, KAKENHI-PROJECT-15K06921, KAKENHI-PROJECT-15K09640, KAKENHI-PROJECT-15K11072, KAKENHI-PROJECT-16K14709, KAKENHI-PROJECT-17H04233, KAKENHI-PROJECT-17H03654, KAKENHI-PROJECT-15H04655
  • [Journal Article] Long-Term Efficacy and Safety of Hizentra in Patients with Primary Immunodeficiency in Japan, Europe, and the United States: a Review of 7 Phase 3 Trials2018

    • Author(s)
      Jolles S, Rojavin MA, Lawo JP, Nelson R Jr, Wasserman RL, Borte M, Tortorici MA, Imai K, Kanegane H
    • Journal Title

      J Clin Immunol

      Volume: 38 Issue: 8 Pages: 864-865

    • DOI

      10.1007/s10875-018-0560-5

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Journal Article] B-lymphoblastic lymphoma with TCF3-PBX1 fusion gene2018

    • Author(s)
      Kubota-Tanaka M, Osumi T, Miura S, Tsujimoto H, Imamura T, Nishimura A, Oki K, Nakamura K, Miyamoto S, Inoue K, Inoue M, Kamiya T, Yanagimachi M, Okano T, Mitsuiki N, Isoda T, Imai K, Kanegane H, Morio T, Kounami S, Endo M, Kato M, Takagi M
    • Journal Title

      Haematologica

      Volume: 104 Issue: 1 Pages: e35-e37

    • DOI

      10.3324/haematol.2018.199885

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Journal Article] Hematopoietic cell transplantation for myeloid/NK cell precursor acute leukemia in second remission2018

    • Author(s)
      Noguchi Yusuke、Tomizawa Daisuke、Hiroki Haruka、Miyamoto Satoshi、Tezuka Mari、Miyawaki Reiji、Tanaka-Kubota Mari、Okano Tubasa、Kobayashi Chika、Mitsuiki Noriko、Aoki Yuki、Imai Kohsuke、Kajiwara Michiko、Kanegane Hirokazu、Morio Tomohiro、Takagi Masatoshi
    • Journal Title

      Clinical Case Reports

      Volume: 6 Issue: 6 Pages: 1023-1028

    • DOI

      10.1002/ccr3.1506

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Journal Article] Dysregulation of Epstein-Barr virus infection in hypomorphic ZAP70 mutation2018

    • Author(s)
      Hoshino A,Takashima T, Yoshida K, Morimoto A, Kawahara Y, Yeh TW, Okano T, Yamashita M, Mitsuiki N, Imai K, Sakatani T, Nakazawa A, Okuno Y, Shiraishi Y, Chiba K, Tanaka H, Miyano S,Ogawa S, Kojima S, Morio T, Kanegane H
    • Journal Title

      J Infect Dis

      Volume: 印刷中 Issue: 5 Pages: 825-834

    • DOI

      10.1093/infdis/jiy231

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-15K09640, KAKENHI-PROJECT-17K10099, KAKENHI-PROJECT-18K07814, KAKENHI-PLANNED-15H05909
  • [Journal Article] Wiskott-Aldrich syndrome that was initially diagnosed as immune thrombocytopenic purpura secondary to a cytomegalovirus infection2018

    • Author(s)
      Kaneko R, Yamamoto S, Okamoto N, Akiyama K, Matsuno R, Toyama D, Hoshino A, Imai K, Isoyama K
    • Journal Title

      SAGE Open Med Case Rep

      Volume: 6 Pages: 1-3

    • DOI

      10.1177/2050313x17753788

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-15K09640, KAKENHI-PROJECT-18K15687
  • [Journal Article] Outcome of Hematopoietic Cell Transplantation for DNA-Double Strand Breakage Repair Disorders2018

    • Author(s)
      Slack J, Albert MH, Balashov D, Belohradsky BH, Bertaina A,Imai K,Gennery AR
    • Journal Title

      J Allergy Clin Immunol

      Volume: 141 Issue: 1 Pages: 322-328

    • DOI

      10.1016/j.jaci.2017.02.036

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K09640, KAKENHI-PROJECT-15K09647, KAKENHI-PROJECT-15K09780
  • [Journal Article] Prolonged neutropenia due to antihuman neutrophil antigen 2 (CD177) antibody after bone marrow transplantation.2017

    • Author(s)
      Wada T, Miyamoto S, Okamoto H, Matsuda Y, Toma T, Imai K, Takagi M, Morio T, Yachie A.
    • Journal Title

      Pediatr Blood Cancer.

      Volume: 印刷中 Issue: 7 Pages: e26388-e26388

    • DOI

      10.1002/pbc.26388

    • NAID

      120006338397

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-15K09640, KAKENHI-PROJECT-15K09642
  • [Journal Article] Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study2017

    • Author(s)
      Coulter TI, Chandra A, Bacon CM, Imai K,
    • Journal Title

      J Allergy Clin Immunol.

      Volume: 139 Issue: 2 Pages: 597-606

    • DOI

      10.1016/j.jaci.2016.06.021

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K09640, KAKENHI-PROJECT-17H04233
  • [Journal Article] Maternal T and B cell engraftment in two cases of X-linked severe combined immunodeficiency with IgG1 gammopathy.2017

    • Author(s)
      Okano T, Nishikawa T, Watanabe E, Watanabe T, Takashima T, Yeh TW, Yamashita M, Tanaka-Kubota M, Miyamoto S, Mitsuiki N, Takagi M, Kawano Y, Mochizuki Y, Imai K, Kanegane H, Morio T.
    • Journal Title

      Clin Immunol.

      Volume: 183 Pages: 112-120

    • DOI

      10.1016/j.clim.2017.08.003

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-16K10033, KAKENHI-PROJECT-16K10034, KAKENHI-PROJECT-17K10099, KAKENHI-PROJECT-15K09640
  • [Journal Article] Infection Profile in Chronic Granulomatous Disease: a 23-Year Experience from a Tertiary Care Center in North India2017

    • Author(s)
      Rawat A, Vignesh P, Sharma A, Shandilya JK, Sharma M, Suri D, Gupta A, Gautam V, Ray P, Rudramurthy SM, Chakrabarti A, Imai K, Nonoyama S, Ohara O, Lau YL, Singh S
    • Journal Title

      J Clin Immunol

      Volume: 37 Issue: 3 Pages: 319-328

    • DOI

      10.1007/s10875-017-0382-x

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Journal Article] Reticular dysgenesis: international survey on clinical presentation, transplantation and outcome2017

    • Author(s)
      Hoenig M, Lagresle-Peyrou C, Pannicke U, Notarangelo LD, Porta F, Gennery AR, Slatter M, Cowan MJ, Stepensky P, Al-Mousa H, Al-Zahrani D, Pai SY, Al Herz W, Gaspar HB, Veys P, Oshima K, Imai K, Yabe H, Noroski LM, Wulffraat NM, Sykora KW,
    • Journal Title

      Blood.

      Volume: 印刷中 Issue: 21 Pages: 2928-2938

    • DOI

      10.1182/blood-2016-11-745638

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Journal Article] Persistent Impairment of T-Cell Regeneration in a Patient with Activated PI3K δ Syndrome2017

    • Author(s)
      Goto F, Uchiyama T, Nakazawa Y, Imai K, Kawai T, Onodera M
    • Journal Title

      J Clin Immunol

      Volume: 37 Issue: 4 Pages: 347-350

    • DOI

      10.1007/s10875-017-0393-7

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-15K09640, KAKENHI-PROJECT-15K09676
  • [Journal Article] Effect of reduced-intensity conditioning and the risk of late-onset non-infectious pulmonary complications in pediatric patients.2017

    • Author(s)
      Nagasawa M, Mitsuiki N, Aoki Y, Ono T, Isoda T, Imai K, Takagi M, Kajiwara M, Kanegane H, Morio T.
    • Journal Title

      Eur J Haematol

      Volume: 99 Issue: 6 Pages: 525-531

    • DOI

      10.1111/ejh.12967

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17K10099, KAKENHI-PROJECT-15K09639, KAKENHI-PROJECT-15K09640
  • [Journal Article] A stable mixed chimera after SCT with RIC in an infant with IkappaB hypermorphic mutation2017

    • Author(s)
      Masayuki Nagasawa, Teppei Ohkawa, Masatoshi Takagi, Kohsuke Imai, Tomohiro Morio
    • Journal Title

      Journal of Clinical Immunology

      Volume: 印刷中 Issue: 5 Pages: 413-414

    • DOI

      10.1007/s10875-017-0375-9

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K09639, KAKENHI-PROJECT-15K09640
  • [Journal Article] Multicolor Flow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases.2017

    • Author(s)
      Takashima T, Okamura M, Yeh TW, Okano T, Yamashita M, Tanaka K, Hoshino A, Mitsuiki N, Takagi M, Ishii E, Imai K, Kanegane H, Morio T.
    • Journal Title

      J Clin Immunol.

      Volume: 37 Issue: 5 Pages: 486-495

    • DOI

      10.1007/s10875-017-0405-7

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17K10099, KAKENHI-PROJECT-15K09640
  • [Journal Article] Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphicIKBKG/NEMO mutations2017

    • Author(s)
      Miot C, Imai K, Imai C, Mancini AJ, Kucuk XY, Kawai T, Nishikomori R, Ito E, Pellier I, Girod SD, Rosain J, Sasaki S, Casanova JL, Orange JS, and Picard C et al.
    • Journal Title

      Blood.

      Volume: 130 Issue: 12 Pages: 1456-1467

    • DOI

      10.1182/blood-2017-03-771600

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-26253061, KAKENHI-PROJECT-15H04876, KAKENHI-PROJECT-15K09640, KAKENHI-PROJECT-16K10015
  • [Journal Article] Haploinsufficiency of TNFAIP3 (A20) by germline mutation is involved in autoimmune lymphoproliferative syndrome.2017

    • Author(s)
      Takagi M, Ogata S, Ueno H, Yoshida K, Yeh T, Hoshino A, Piao J, Yamashita M, Nanya M, Okano T, Kajiwara M, Kanegane H, Muramatsu H, Okuno Y, Shiraishi Y, Chiba K, Tanaka H, Bando Y, Kato M, Hayashi Y, Miyano S, Imai K, Ogawa S, Kojima S, Morio T.
    • Journal Title

      J Allergy Clin Immunol.

      Volume: - Issue: 6 Pages: 31286-6

    • DOI

      10.1016/j.jaci.2016.09.038

    • Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PLANNED-15H05909, KAKENHI-PROJECT-26221308, KAKENHI-PROJECT-26293244, KAKENHI-PROJECT-26461570, KAKENHI-PROJECT-15K09640, KAKENHI-PROJECT-17K10099, KAKENHI-PLANNED-15H05912
  • [Journal Article] Placental Transfer of Canakinumab in a Patient with Muckle-Wells Syndrome.2017

    • Author(s)
      Egawa M, Imai K, Mori M, Miyasaka N, Kubota T.
    • Journal Title

      J Clin Immunol.

      Volume: 印刷中 Issue: 4 Pages: 339-341

    • DOI

      10.1007/s10875-017-0389-3

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-15K09640, KAKENHI-PROJECT-16K08929
  • [Journal Article] Hematopoietic Stem Cell Transplantation for XIAP Deficiency in Japan.2017

    • Author(s)
      3.Ono S, Okano T, Hoshino A, Yanagimachi M, Hamamoto K, Nakazawa Y, Imamura T, Onuma M, Niizuma H, Sasahara Y, Tsujimoto H, Wada T, Kunisaki R, Takagi M, Imai K, Morio T, Kanegane H.
    • Journal Title

      J Clin Immunol.

      Volume: 37 Issue: 1 Pages: 85-91

    • DOI

      10.1007/s10875-016-0348-4

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-26293244, KAKENHI-PROJECT-26461570, KAKENHI-PROJECT-15K15386, KAKENHI-PROJECT-15K09640, KAKENHI-PROJECT-15K09642
  • [Journal Article] Common Variable Immunodeficiency Caused by FANC Mutations2017

    • Author(s)
      Sekinaka Y., Mitsuiki N., Imai K., Yabe M., Yabe H., Mitsui-Sekinaka K., Honma K., Takagi M., Arai A., Yoshida K., Okuno Y., Shiraishi Y., Chiba K., Tanaka H., Miyano S., Muramatsu H., Kojima S., Hira A., Takata M., Ohara O., Ogawa S., Morio T., Nonoyama S.
    • Journal Title

      Journal of clinical immunology

      Volume: 37 Issue: 5 Pages: 434-444

    • DOI

      10.1007/s10875-017-0396-4

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-26221308, KAKENHI-PROJECT-15H01738, KAKENHI-PROJECT-15K09468, KAKENHI-PROJECT-15K09640, KAKENHI-PROJECT-15K09647
  • [Journal Article] Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations.2017

    • Author(s)
      Hoshino A, Okada S, Yoshida K, Nishida N, Okuno Y, Ueno H, Yamashita M, Okano T, Tsumura M, Nishimura S, Sakata S, Kobayashi M, Nakamura H, Kamizono J, Mitsui-Sekinaka K, Ichimura T, Ohga S, Nakazawa Y, Takagi M, Imai K, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Ogawa S, Kojima S, Nonoyama S, Morio T, Kanegane H.
    • Journal Title

      J Allergy Clin Immunol.

      Volume: - Issue: 1 Pages: 390-400

    • DOI

      10.1016/j.jaci.2016.09.029

    • Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PLANNED-15H05909, KAKENHI-PROJECT-26221308, KAKENHI-PROJECT-26293244, KAKENHI-PROJECT-26293250, KAKENHI-PROJECT-26461570, KAKENHI-PROJECT-15K15386, KAKENHI-PROJECT-15K21189, KAKENHI-PROJECT-15K09640, KAKENHI-PROJECT-17K10099, KAKENHI-PROJECT-17K10112, KAKENHI-PLANNED-15H05912, KAKENHI-PROJECT-16H05355, KAKENHI-PROJECT-16K15528
  • [Journal Article] X-linked agammaglobulinemia: Twenty years of single-center experience from North West India.2016

    • Author(s)
      Singh S, Rawat A, Suri D, Gupta A, Garg R, Saikia B, Minz RW, Sehgal S, Chan KW, Lau YL, Kamae C, Honma K, Nakagawa N, Imai K, Nonoyama S, Oshima K, Mitsuiki N, Ohara O.
    • Journal Title

      Ann Allergy Asthma Immunol.

      Volume: 117 Issue: 4 Pages: 405-411

    • DOI

      10.1016/j.anai.2016.07.044

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Journal Article] Novel compound heterozygous mutations in a Japanese girl with Janus kinase 3 deficiency.2016

    • Author(s)
      5.Sato T, Okano T, Tanaka-Kubota M, Kimura S, Miyamoto S, Ono S, Yamashita M, Mitsuiki N, Takagi M, Imai K, Kajiwara M, Ebato T, Ogata S, Oda H, Ohara O, Kanegane H, Morio T.
    • Journal Title

      Pediatr Int.

      Volume: 58 Issue: 10 Pages: 1076-1080

    • DOI

      10.1111/ped.13070

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-26293244, KAKENHI-PROJECT-26461570, KAKENHI-PROJECT-15K09640
  • [Journal Article] Successful T-cell reconstitution after unrelated cord blood transplantation in a patient with complete DiGeorge syndrome.2016

    • Author(s)
      Kojima D, Muramatsu H, Okuno Y, Kataoka S, Murakami N, Tanahashi Y, Suzuki K, Kato T, Sekiya Y, Kawashima N, Narita A, Nishio N, Hama A, Imai K, Nonoyama S, Takahashi Y, Kojima S.
    • Journal Title

      J Allergy Clin Immunol.

      Volume: 138 Issue: 5 Pages: 1471-1473

    • DOI

      10.1016/j.jaci.2016.04.048

    • NAID

      120005981223

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-26461580, KAKENHI-PROJECT-15K09640, KAKENHI-PROJECT-16K19311
  • [Journal Article] Allogeneic hematopoietic stem cell transplantation for Chediak-Higashi syndrome.2016

    • Author(s)
      Umeda K, Adachi S, Horikoshi Y, Imai K, Terui K, Endo M, Mitsui T, Kato K, Koh K, Kajiwara R, Ito R, Otsuka Y, Inoue M, Ishii E, Yabe H.
    • Journal Title

      Pediatiric Transplant

      Volume: 20 Issue: 2 Pages: 271-5

    • DOI

      10.1111/petr.12626

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24591539, KAKENHI-PROJECT-26461567, KAKENHI-PROJECT-16K10013
  • [Journal Article] Ataxia Telangiectasia Masquerading as Hyper IgM Syndrome.2016

    • Author(s)
      Rawat A, Imai K, Suri D, Gupta A, Bhisikar S, et al
    • Journal Title

      Indian J Pediatr

      Volume: 83 Issue: 3 Pages: 270-271

    • DOI

      10.1007/s12098-015-1852-x

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Journal Article] Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study.2016

    • Author(s)
      Elkaim E, Neven B, Bruneau J, Mitsui-Sekinaka K, Imai K, et al.
    • Journal Title

      J Allergy Clin Immunol.

      Volume: 138 Issue: 1 Pages: 210-218

    • DOI

      10.1016/j.jaci.2016.03.022

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Journal Article] A Patient with CTLA-4 Haploinsufficiency Presenting Gastric Cancer.2016

    • Author(s)
      Hayakawa S, Okada S, Tsumura M, Sakata S, Ueno Y, Imai K, Morio T, Ohara O, Chayama K, Kobayashi M.
    • Journal Title

      J. Clin. Immunol..

      Volume: 36 Issue: 1 Pages: 28-32

    • DOI

      10.1007/s10875-015-0221-x

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-15K09640, KAKENHI-PROJECT-15K21189, KAKENHI-PROJECT-25713039
  • [Journal Article] Phosphatase and tensin homolog (PTEN) mutation can cause activated phosphatidylinositol 3-kinase delta syndrome-like immunodeficiency.2016

    • Author(s)
      Tsujita Y, et al.
    • Journal Title

      J Allergy Clin Immunol.

      Volume: 138 Issue: 6 Pages: 1672-1680

    • DOI

      10.1016/j.jaci.2016.03.055

    • Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-26221308, KAKENHI-PROJECT-16H05355, KAKENHI-PROJECT-15H06186, KAKENHI-PROJECT-26293244, KAKENHI-PROJECT-26461570, KAKENHI-PROJECT-15K09640, KAKENHI-PROJECT-15K09710, KAKENHI-PROJECT-16K15528
  • [Journal Article] Multicenter experience in hematopoietic stem cell transplantation for serious complications of common variable immunodeficiency.2015

    • Author(s)
      Wehr C, Gennery A, Lindemans C, Schulz A, Hoenig M, Marks R, Recher M, Gruhn B, Holbro A, Heijnen I, Meyer D, Grigoleit G, Einsele H, Baumann U, Witte T, Sykora KW, Goldacker S, Regairaz L, Aksoylar S, Ardeniz &Ouml;, Zecca M, Zdziarski P, Meyts I, Matthes-Martin S, Imai K, et al
    • Journal Title

      J Allergy Clin Immunol.

      Volume: 135 Issue: 4 Pages: 988-97

    • DOI

      10.1016/j.jaci.2014.11.029

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K09640, KAKENHI-PROJECT-26461567
  • [Journal Article] Hematopoietic Stem Cell Transplantation for X-Linked Thrombocytopenia With Mutations in the WAS gene.2015

    • Author(s)
      Oshima K, Imai K, et al.
    • Journal Title

      J Clin Immunol.

      Volume: 35 (1) Pages: 15-21

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-26461567
  • [Journal Article] Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly-progressing radiosensitive-severe combined immunodeficiency2015

    • Author(s)
      Tamura S, Higuchi K, Tamaki M, Inoue C, Awazawa R, Mitsuki N, Nakazawa Y, Mishima H, Takahashi K, Kondo O, Imai K, Morio T, Ohara O,et al
    • Journal Title

      Clin Immunol

      Volume: 160 Issue: 2 Pages: 255-260

    • DOI

      10.1016/j.clim.2015.07.004

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-15K09640, KAKENHI-PROJECT-15K09747, KAKENHI-PROJECT-25430183, KAKENHI-PROJECT-26461567, KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-25293084, KAKENHI-PROJECT-26291005, KAKENHI-PROJECT-15H02654
  • [Journal Article] 多パラメータ解析による免疫担当細胞亜群同定と機能解析2015

    • Author(s)
      森尾友宏、高島健浩、今井耕輔
    • Journal Title

      医学のあゆみ

      Volume: 252 Pages: 48-54

    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Journal Article] Dysgammaglobulinemia Associated With Glu349del, a Hypomorphic XIAP Mutation.2015

    • Author(s)
      Nishida N, Yang X, Takasaki I, Imai K, Kato K, Inoue Y, Imamura T, Miyashita R, Kato F, Yamaide A, Mori M, Saito S, Hara J, Adachi Y, Miyawaki T,Kanegane H
    • Journal Title

      J Investig Allergol Clin Immunol

      Volume: 25 Pages: 205-213

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Journal Article] 原発性免疫不全症 原因探索法・診断法の進歩2015

    • Author(s)
      今井耕輔
    • Journal Title

      アレルギー・免疫

      Volume: 22 Pages: 1196-1207

    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Journal Article] Mutations in Bruton's tyrosine kinase impair IgA responses.2015

    • Author(s)
      Mitsuiki N, Yang X, S, Bartol SJ, Grosserichter-Wagener C, Kosaka Y, Takada H, Imai K, Kanegane H, Mizutani S, van der Burg M, van Zelm MC, Ohara O, Morio T.
    • Journal Title

      Int J Hematol.

      Volume: 101(3) Issue: 3 Pages: 305-13

    • DOI

      10.1007/s12185-015-1732-1

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-26293244, KAKENHI-PROJECT-15K09640, KAKENHI-PROJECT-15K09655
  • [Journal Article] Hematopoietic Stem Cell Transplantation for X-Linked Thrombocytopenia With Mutations in the WAS gene.2015

    • Author(s)
      Oshima K, Imai K, Albert M.H, Bittner T.C, Strauss G, Filipovich A.H, Morio T, Kapoor N, Dalal J, Schultz K.R, Casper J.T, Notarangelo L.D, Ochs H.D, Nonoyama S.
    • Journal Title

      J Clin Immunol

      Volume: 35 Issue: 1 Pages: 15-21

    • DOI

      10.1007/s10875-014-0105-5

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K15396, KAKENHI-PROJECT-26293250
  • [Journal Article] RAG1 Deficiency May Present Clinically as Selective IgA Deficiency.2015

    • Author(s)
      Kato T, Crestani E, Kamae C, Honma K, Yokosuka T, Ikegawa T, Nishida N, Kanegane H, Wada T, Yachie A, Ohara O, Morio T, Notarangelo LD, Imai K, Nonoyama S.
    • Journal Title

      J Clin Immunol.

      Volume: 35(3) Issue: 3 Pages: 280-8

    • DOI

      10.1007/s10875-015-0146-4

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-26293244, KAKENHI-PROJECT-15K09640, KAKENHI-PROJECT-15K09642, KAKENHI-PROJECT-15K15396, KAKENHI-PROJECT-26461567, KAKENHI-PROJECT-26293250
  • [Journal Article] Successful Myeloablative Bone Marrow Transplantation in an Infant With Wiskott-Aldrich Syndrome and Bacillus Calmette-Guerin Infection.2015

    • Author(s)
      Yasutomi M, Yoshioka K, Mibayashi A, Tanizawa A, Imai K,et al.
    • Journal Title

      Pediatr Blood Cancer.

      Volume: 62(11) Issue: 11 Pages: 2052-2053

    • DOI

      10.1002/pbc.25588

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-26461567
  • [Journal Article] Clinical features and hematopoietic stem cell transplantation for CD40 ligand deficiency in Japan2015

    • Author(s)
      Mitsui-Sekinaka K, Imai K, Sato H, Tomizawa D, Kajiwara M, Nagasawa M, Morio T, Nonoyama S
    • Journal Title

      Journal of Allergy and Clinical Immunology

      Volume: - Issue: 4 Pages: 1018-1024

    • DOI

      10.1016/j.jaci.2015.02.020

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-24591541, KAKENHI-PROJECT-15K09639, KAKENHI-PROJECT-15K09640, KAKENHI-PROJECT-15K15396, KAKENHI-PROJECT-26461567, KAKENHI-PROJECT-26293250
  • [Journal Article] 免疫グロブリンクラススイッチ異常症(高IgM症候群)2015

    • Author(s)
      今井耕輔
    • Journal Title

      小児内科

      Volume: 47 Pages: 713-717

    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Journal Article] PI3K異常症および類縁疾患2015

    • Author(s)
      辻田 由喜、今井耕輔、野々山 恵章.
    • Journal Title

      小児内科

      Volume: 47 Pages: 776-778

    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Journal Article] Efficacy and safety of IgPro20, a subcutaneous immunoglobulin, in Japanese patients with primary immunodeficiency diseases2014

    • Author(s)
      Kanegane H, Imai K, Yamada M, Takada H, Ariga T, Bexon M, Rojavin M, Hu W, Kobayashi M, Lawo JP, Nonoyama S, Hara T, Miyawaki T
    • Journal Title

      J Clin Immunol

      Volume: 34 Issue: 2 Pages: 204-211

    • DOI

      10.1007/s10875-013-9985-z

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-24591551, KAKENHI-PROJECT-26293250, KAKENHI-PROJECT-26461567
  • [Journal Article] Cord blood transplantation is associated with rapid B cell neogenesis compared with bone marrow transplantation2014

    • Author(s)
      Nakatani K, Imai K, Shigeno M, Sato H, Tezuka M, Okawa T, Mitsuiki N, Isoda T, Tomizawa D, Takagi M, Nagasawa M, Kajiwara M, Yamamoto M, Arai A, Miura O, Kamae C, Nakagawa N, Honma K, Nonoyama S, Mizutani S, Morio T.
    • Journal Title

      Bone Marrow Transplantation

      Volume: 49 Issue: 9 Pages: 1155-1161

    • DOI

      10.1038/bmt.2014.123

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-PROJECT-24591541, KAKENHI-PROJECT-26293244, KAKENHI-PROJECT-26293250, KAKENHI-PROJECT-26461567
  • [Journal Article] Analysis of somatic hypermutation in the IgM switch region in human B cells.2014

    • Author(s)
      Horiuchi K
    • Journal Title

      J Allergy Clin Immunol.

      Volume: 134 Issue: 2 Pages: 411-419

    • DOI

      10.1016/j.jaci.2014.02.043

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-26293250, KAKENHI-PROJECT-26461567
  • [Journal Article] Pneumothorax in patients with severe combined immunodeficiency.2014

    • Author(s)
      Hoshino A, Imai K, Ohshima Y, Yasutomi M, Kasai M, Terai M, Ishigaki K, Morio T, Miyawaki T, Kanegane H.
    • Journal Title

      Pediatr Int.

      Volume: 56(4) Issue: 4 Pages: 510-4

    • DOI

      10.1111/ped.12325

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-26461567
  • [Journal Article] 免疫系overview-免疫不全症との対応を含めて[見逃しやすい免疫不全]2014

    • Author(s)
      今井耕輔
    • Journal Title

      小児内科

      Volume: 46(10) Pages: 1454-58

    • Data Source
      KAKENHI-PROJECT-26461567
  • [Journal Article] 新生児スクリーニングによる原発性免疫不全症の診断2013

    • Author(s)
      今井耕輔
    • Journal Title

      小児科臨床

      Volume: 66 Pages: 1025-1032

    • Data Source
      KAKENHI-PROJECT-23591561
  • [Journal Article] Successful Treatment of Diffuse Large B-Cell Lymphoma in a Patient With Ataxia Telangiectasia Using Rituximab.2013

    • Author(s)
      Machida S, Tomizawa D, Tamaichi H, Okawa T, Endo A, Imai K, Nagasawa M, Morio T, Mizutani S, Takagi M.
    • Journal Title

      Pediatr Hematol Oncol.

      Volume: in press

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390213
  • [Journal Article] Common variable immunodeficiency classification by quantifying T-cell receptor and immunoglobulin κ-deleting recombination excision circles2013

    • Author(s)
      Kamae C, Nakagawa N, Sato H, Honma K, Mitsuiki N, Ohara O, Kanegane H, Pasic S, Pan-Hammarstrom Q, van Zelm MC, Morio T, Imai K, Nonoyama S
    • Journal Title

      J Allergy Clin Immunol

      Volume: 131 Pages: 1437-40

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591561
  • [Journal Article] Successful Treatment of Diffuse Large B-Cell Lymphoma in a Patient With Ataxia Telangiectasia Using Rituximab.2013

    • Author(s)
      Machida S, Tomizawa D, Tamaichi H, Okawa T, Endo A, Imai K, Nagasawa M, Morio T, Mizutani S, Takagi M.
    • Journal Title

      J Pediatr Hematol Oncol

      Volume: -

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591561
  • [Journal Article] 免疫グロブリンクラススイッチ異常症(高IgM症候群)2013

    • Author(s)
      今井耕輔
    • Journal Title

      日本臨床別冊

      Volume: 22 Pages: 237-241

    • Data Source
      KAKENHI-PROJECT-23591561
  • [Journal Article] Successful bone marrow transplantation with reduced intensity conditioning in a patient with delayed-onset adenosine deaminase deficiency.2013

    • Author(s)
      Kanegane H, Taneichi H, Nomura K, Wada T, Yachie A, Imai K, Ariga T, Santisteban I, Hershfield MS, Miyawaki T.
    • Journal Title

      Pediatr Transplant.

      Volume: 71 Issue: 1

    • DOI

      10.1111/j.1399-3046.2012.01762.x

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390213, KAKENHI-PROJECT-23591561, KAKENHI-PROJECT-24591542
  • [Journal Article] Wiskott-Aldrich syndrome presenting with a clinical picture mimicking juvenile myelomonocytic leukaemia2013

    • Author(s)
      Yoshimi A, Kamachi Y, Imai K, Watanabe N,Nakadate H, Kanazawa T, Hama A, Muramatsu H,Sasahara Y, Jakob M, Morio T, Ehl S, Manabe A,Niemeyer C, Kojima S.
    • Journal Title

      Pediatr Blood Cancer

      Volume: 60 Pages: 836-41

    • Data Source
      KAKENHI-PROJECT-23591561
  • [Journal Article] Successful bone marrow transplantation with reduced intensity conditioning in a patient with delayed-onset adenosine deaminase deficiency2013

    • Author(s)
      Kanegane H, Taneichi H, Nomura K, Wada T,Yachie A, Imai K, Ariga T, Santisteban I,Hershfield MS, Miyawaki
    • Journal Title

      Pediatr Transplant

      Volume: 17

    • Data Source
      KAKENHI-PROJECT-23591561
  • [Journal Article] TREC,KRECによる原発性免疫不全症のスクリーニング2013

    • Author(s)
      今井耕輔
    • Journal Title

      小児内科

      Volume: 45 Pages: 1148-1151

    • Data Source
      KAKENHI-PROJECT-23591561
  • [Journal Article] Successful Treatment of Diffuse Large B-Cell Lymphoma in a Patient With Ataxia Telangiectasia Using Rituximab2013

    • Author(s)
      Machida S, Tomizawa D, Tamaichi H, Okawa T,Endo A, Imai K, Nagasawa M, Morio T, Mizutani S, Takagi M.
    • Journal Title

      J Pediatr Hematol Oncol

      Volume: 35

    • Data Source
      KAKENHI-PROJECT-23591561
  • [Journal Article] TREC,KRECによる原発性免疫不全症のスクリーニング2013

    • Author(s)
      今井耕輔
    • Journal Title

      日本臨床 別冊

      Volume: 22 Pages: 237-241

    • Data Source
      KAKENHI-PROJECT-23591561
  • [Journal Article] Common variable immunodeficiency classification by quantifying T-cell receptor and immunoglobulin κ-deleting recombination excision circles.2013

    • Author(s)
      Kamae C, Nakagawa N, Sato H, Honma K, Mitsuiki N, Ohara O, Kanegane H, Pasic S, Pan-Hammarström Q, van Zelm MC, Morio T, Imai K, Nonoyama S.
    • Journal Title

      J Allergy Clin Immunol

      Volume: 131 Issue: 5 Pages: 1437-1440

    • DOI

      10.1016/j.jaci.2012.10.059

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591561
  • [Journal Article] Common variable immunodeficiency classification by quantifying T-cell receptor and immunoglobulinκ-deleting recombination excision circles2013

    • Author(s)
      Kamae C, Nakagawa N, Sato H, Honma K, Mitsuiki N, Ohara O, Kanegane H, Pasic S, Pan-Hammarström Q, van Zelm MC, Morio T, Imai K, Nonoyama S.
    • Journal Title

      J Allergy Clin Immunol

      Volume: 131(5) Pages: 1437-40

    • Data Source
      KAKENHI-PROJECT-23591561
  • [Journal Article] MonoMAC症候群(GATA2異常症)2013

    • Author(s)
      本間健一,今井耕輔,金兼弘和,野々山恵章
    • Journal Title

      臨床免疫・アレルギー科

      Volume: 4 Pages: 439-446

    • NAID

      40019836961

    • Data Source
      KAKENHI-PROJECT-23591561
  • [Journal Article] 免疫グロブリンクラススイッチ異常症(高IgM症候群)2013

    • Author(s)
      今井耕輔
    • Journal Title

      日本臨床 別冊

      Volume: 22 Pages: 237-241

    • Data Source
      KAKENHI-PROJECT-23591561
  • [Journal Article] Clinical profile and genetic basis of Wiskott-Aldrich syndrome at Chandigarh, North India.2012

    • Author(s)
      Suri D, Singh S, Rawat A, Gupta A, Kamae C, Honma K, Nakagawa N, Imai K, Nonoyama S, Oshima K, Mitsuiki N, Ohara O, Bilhou-Nabera C,
    • Journal Title

      Asian Pac J Allergy Immunol

      Volume: 30 Pages: 71-8

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591561
  • [Journal Article] Endocrine complications in primary immunodeficiency diseases in Japan2012

    • Author(s)
      Nozaki T, Takada H, Ishimura M, Ihara K, Imai K, Morio T, Kobayashi M, Nonoyama S, Hara T.
    • Journal Title

      Clin Endocrinol (Oxf)

      Volume: 77 Pages: 628-34

    • Data Source
      KAKENHI-PROJECT-23591561
  • [Journal Article] Clinical and genetic characteristics of XIAP deficiency in Japan.2012

    • Author(s)
      Yang X, Kanegane H, Nishida N, Imamura T, Hamamoto K, Miyashita R, Imai K, Nonoyama S, Sanayama K, Yamaide A, Kato F, Nagai K, Ishii E, Zelm M, Latour S, Zhao X, Miyawaki T.
    • Journal Title

      J Clin Immunol.

      Volume: 32 Issue: 3 Pages: 411-420

    • DOI

      10.1007/s10875-011-9638-z

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390213, KAKENHI-PROJECT-23591561
  • [Journal Article] Delayed onset adenosine deaminase deficiency associated with acute disseminated encephalomyelitis2012

    • Author(s)
      Nakaoka H, Kanegane H, Taneichi H, Miya K, Yang X, Nomura K, Takezaki S, Yamada M, Ohara O, Kamae C, Imai K, Nonoyama S, Wada T, Yachie A, Hershfield MS, Ariga T, Miyawaki T
    • Journal Title

      Int J Hematol

      Volume: (in press)

    • NAID

      10030793746

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390213
  • [Journal Article] Endocrine complications in primary immunodeficiency diseases in Japan2012

    • Author(s)
      Nozaki T, Takada H, Ishimura M, Ihara K, Imai K, Morio T, Kobayashi M, Nonoyama S, Hara T
    • Journal Title

      Clin Endocrinol

    • Peer Reviewed
    • Data Source
      KAKENHI-PUBLICLY-22021049
  • [Journal Article] Clinical profile and genetic basis of Wiskott-Aldrich syndrome at Chandigarh, North India2012

    • Author(s)
      Suri D, Singh S, Rawat A, Gupta A, Kamae C, Honma K, Nakagawa N, Imai K, Nonoyama S, Oshima K, Mitsuiki N, Ohara O, Bilhou-Nabera C.
    • Journal Title

      Asian Pac J Allergy Immunol

      Volume: 30 Pages: 71-8

    • Data Source
      KAKENHI-PROJECT-23591561
  • [Journal Article] Hyper-eosinophilia in granular acute B-cell lymphoblastic leukemia with myeloid antigen expression2012

    • Author(s)
      Kobayashi D, Kogawa K, Imai K, Tanaka T, Sada A, Nonoyama S
    • Journal Title

      Pediatr Int

      Volume: (in press)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390213
  • [Journal Article] Multiple reversions of an IL2RG mutation restore T cell function in an X-linked severe combined immunodeficiency patient2012

    • Author(s)
      Kawai T, Saito M, Nishikomori R, Yasumi T, Izawa K, Murakami T, Okamoto S, Mori Y, Nakagawa N, Imai K, Nonoyama S, Wada T, Yachie A, Ohmori K, Nakahata T, Heike T
    • Journal Title

      J Clin Immunol

    • Peer Reviewed
    • Data Source
      KAKENHI-PUBLICLY-22021049
  • [Journal Article] Clinical and genetic characteristics of XIAP deficiency in Japan2012

    • Author(s)
      Yang X, Kanegane H, Nishida N, Imamura T, Hamamoto K, Miyashita R, Imai K, Nonoyama S, Sanayama K, Yamaide A, Kato F, Nagai K, Ishii E, Zelm M, Latour S, Zhao X, Miyawaki T
    • Journal Title

      J Clin Immunol

      Volume: (in press)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390213
  • [Journal Article] Clinical profile and genetic basis of Wiskott-Aldrich syndrome at Chandigarh, north India2012

    • Author(s)
      Suri D, Singh S, Rawat A, Gupta A, Kamae C, Honma K, Nakagawa N, Imai K, Nonoyama S, Oshima K, Mitsuiki N, Ohara O, Bilhou-Nabera C, Proust A, Ahluwalia J, Dogra S, Saikia B, Walker Minz R, Sehgal S
    • Journal Title

      Asian Pac J Allergy Immunol

      Volume: 30 Pages: 1-8

    • Peer Reviewed
    • Data Source
      KAKENHI-PUBLICLY-22021049
  • [Journal Article] A dual reporter splicing assay using HaloTag-containing proteins. Curr Chem Genomics.2012

    • Author(s)
      Oshima K, Nagase T, Imai K, Nonoyama S, Obara M, Mizukami T, Nunoi H, Kanegane H, Kuribayashi F, Amemiya S, Ohara O.
    • Journal Title

      Curr Chem Genomics.

      Volume: 6 Issue: 1 Pages: 27-37

    • DOI

      10.2174/1875397301206010027

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390213, KAKENHI-PROJECT-23591561, KAKENHI-PROJECT-24591563
  • [Journal Article] Clinical and genetic characteristics of XIAP deficiency in Japan2012

    • Author(s)
      Yang X, Kanegane H, Nishida N, Imamura T, Hamamoto K, Miyashita R, Imai K, Nonoyama S, Sanayama K, Yamaide A, Kato F, Nagai K, Ishii E, Zelm M, Latour S, Zhao X, Miyawaki T
    • Journal Title

      J Clin Immunol

    • Peer Reviewed
    • Data Source
      KAKENHI-PUBLICLY-22021049
  • [Journal Article] Multiple reversions of an IL2RG mutation restore T cell function in an X-linked severe combined immunodeficiency patient2012

    • Author(s)
      Kawai T, Saito M, Nishikomori R, Yasumi T, Izawa K, Murakami T, Okamoto S, Mori Y, Nakagawa N, Imai K, Nonoyama S, Wada T, Yachie A, Ohmori K, Nakahata T, Heike T
    • Journal Title

      J Clin Immunol

      Volume: (in press)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390213
  • [Journal Article] Clinical profile and genetic basis of Wiskott-Aldrich syndrome at Chandigarh, north India2012

    • Author(s)
      Suri D, Singh S, Rawat A, Gupta A, Kamae C, Honma K, Nakagawa N, Imai K, Nonoyama S, Oshima K, Mitsuiki N, Ohara O, Bilhou-Nabera C, Proust A, Ahluwalia J, Dogra S, Saikia B, Walker Minz R, Sehgal S
    • Journal Title

      Asian Pac J Allergy Immunol

      Volume: 30 Pages: 1-8

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390213
  • [Journal Article] A novel Wiskott-Aldrich syndrome protein mutation in an infant with thrombotic thrombocytopenic purpura.2012

    • Author(s)
      Kawasaki Y, Toyoda H, Otsuki S, Iwasa T, Iwamoto S, Azuma E, Itoh-Habe N, Wada H, Fujimura Y, Morio T, Imai K, Mitsuiki N, Ohara O, Komada Y.
    • Journal Title

      Eur J Haematol.

      Volume: 90 Issue: 2 Pages: 164-168

    • DOI

      10.1111/ejh.12057

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390213, KAKENHI-PROJECT-22591069, KAKENHI-PROJECT-23390270, KAKENHI-PROJECT-23591425, KAKENHI-PROJECT-23591561
  • [Journal Article] Hyper-eosinophilia in granular acute B-cell lymphoblastic leukemia with myeloid antigen expression.2012

    • Author(s)
      Kobayashi D, Kogawa K, Imai K, Tanaka T, Sada A, Nonoyama S.
    • Journal Title

      Pediatr Int.

      Volume: 54 Issue: 4 Pages: 543-546

    • DOI

      10.1111/j.1442-200x.2011.03471.x

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390213, KAKENHI-PROJECT-23591389
  • [Journal Article] GATA-2 anomaly and clinical phenotype of a sporadic case of lymphedema, dendritic cell, monocyte, B- and NK-cell (DCML) deficiency, and myelodysplasia2012

    • Author(s)
      Ishida H, Imai K, Homma K, Tamura S, Imamura T, Itoh M, Nonoyama S
    • Journal Title

      Eur J Pediatr

      Volume: 171 Issue: 8 Pages: 1273-1276

    • DOI

      10.1007/s00431-012-1715-7

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390213, KAKENHI-PROJECT-23591547, KAKENHI-PROJECT-23591561
  • [Journal Article] GATA-2 anomaly and clinical phenotype of a sporadic case of lymphedema, dendritic cell, monocyte, B- and NK-cell (DCML) deficiency, and myelodysplasia2012

    • Author(s)
      Ishida H, Imai K, Honma K, Tamura S, Imamura T, Ito M, Nonoyama S.
    • Journal Title

      Eur J Pediatr

      Volume: 171 Pages: 1273-6

    • Data Source
      KAKENHI-PROJECT-23591561
  • [Journal Article] Delayed onset adenosine deaminase deficiency associated with acute disseminated encephalomyelitis.2012

    • Author(s)
      Nakaoka H, Kanegane H, Taneichi H, Miya K, Yang X, Nomura K, Takezaki S, Yamada M, Ohara O, Kamae C, Imai K, Nonoyama S, Wada T, Yachie A, Hershfield MS, Ariga T, Miyawaki T.
    • Journal Title

      Int J Hematol.

      Volume: 95 Issue: 6 Pages: 692-696

    • DOI

      10.1007/s12185-012-1055-4

    • NAID

      10030793746

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390213, KAKENHI-PROJECT-23591561, KAKENHI-PROJECT-24591542
  • [Journal Article] Delayed onset adenosine deaminase deficiency associated with acute disseminated encephalomyelitis2012

    • Author(s)
      Nakaoka H, Kanegane H, Taneichi H, Miya K,Yang X, Nomura K, Takezaki S, Yamada M, Ohara O, Kamae C, Imai K, Nonoyama S, Wada T, Yachie A, Hershfield MS, Ariga T, Miyawaki T.
    • Journal Title

      Int J Hematol

      Volume: 95 Pages: 692-6

    • NAID

      10030793746

    • Data Source
      KAKENHI-PROJECT-23591561
  • [Journal Article] Hyper-eosinophilia granular acute B-cell lymphoblastic leukemia with myeloid antigen expression2012

    • Author(s)
      Kobayashi D, Kogawa K, Imai K, Tanaka T, Sada A, Nonoyama S
    • Journal Title

      Pediatr Int

    • Peer Reviewed
    • Data Source
      KAKENHI-PUBLICLY-22021049
  • [Journal Article] A novel Wiskott-Aldrich syndrome protein mutation in an infant with thrombotic thrombocytopenic Purpura2012

    • Author(s)
      Kawasaki Y, Toyoda H, Otsuki S, Iwasa T,Iwamoto S, Azuma E, Itoh-Habe N, Wada H,Fujimura Y, Morio T, Imai K, Mitsuiki N, Ohara O, Komada Y.
    • Journal Title

      Eur J Haematol

      Volume: 90 Pages: 164-8

    • Data Source
      KAKENHI-PROJECT-23591561
  • [Journal Article] Multiple reversions of an IL2RG mutation restore combined immunodeficiency patient.2012

    • Author(s)
      Kawai T., Saito M., Nishikomori R., Yasumi T., Izawa K., Murakami T., Okamoto N., Mori Y., Nakagawa N., Imai K., Nonoyama S., Wada T., Yatie A., Oomori K., Nakahata T., Heike T.
    • Journal Title

      J. Clin. Immunol

      Volume: 32(4) Issue: 4 Pages: 690-7

    • DOI

      10.1007/s10875-012-9684-1

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22249042, KAKENHI-PROJECT-22390213, KAKENHI-PROJECT-23390119, KAKENHI-PROJECT-23591561, KAKENHI-PROJECT-23657147, KAKENHI-PROJECT-24591542, KAKENHI-PROJECT-24659496
  • [Journal Article] NKRP1A+ γδ and αβ T cells are preferentially induced in patients with Salmonella infection.2012

    • Author(s)
      Hoshina T
    • Journal Title

      Hum Immunol

      Volume: 73 Issue: 4 Pages: 623-628

    • DOI

      10.1111/j.1365-2265.2012.04390.x

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22249043, KAKENHI-PROJECT-22390213, KAKENHI-PROJECT-23390270, KAKENHI-PROJECT-24591515, KAKENHI-PROJECT-24591551
  • [Journal Article] GATA-2 anomaly and clinical phenotype of a sporadic case of lymphedema, dendritic cell, monocyte, B- and NK-cell (DCML) deficiency, and myelodysplasia2012

    • Author(s)
      Ishida H, Imai K, Homma K, Tamura S, Imamura T, Itoh M, Nonoyama S
    • Journal Title

      Eur J Pediatr

    • Peer Reviewed
    • Data Source
      KAKENHI-PUBLICLY-22021049
  • [Journal Article] Endocrine complications in primary immunodeficiency diseases in Japan2012

    • Author(s)
      Nozaki T, Takada H, Ishimura M, Ihara K, Imai K, Morio T, Kobayashi M, Nonoyama S, Hara T
    • Journal Title

      Clin Endocrinol

      Volume: (in press)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390213
  • [Journal Article] Heike Multiple reversions of an IL2RG mutation restore T cell function in an X-linked severe combined immunodeficiency patient2012

    • Author(s)
      Kawai T, Saito M, Nishikomori R, Yasumi T, Izawa K, Murakami T, Okamoto S, Mori Y, Nakagawa N,Imai K, Nonoyama S, Wada T, Yachie A, Ohmori K, Nakahata T.
    • Journal Title

      J Clin Immunol

      Volume: 32 Pages: 690-7

    • Data Source
      KAKENHI-PROJECT-23591561
  • [Journal Article] A Dual Reporter Splicing Assay Using HaloTag-containing Proteins2012

    • Author(s)
      Oshima K, Nagase T, Imai K, Nonoyama S, Obara M, Mizukami T, Nunoi H, Kanegane H, Kuribayashi F, Amemiya S, Ohara O.
    • Journal Title

      Curr Chem Genomics

      Volume: 6 Pages: 27-37

    • Data Source
      KAKENHI-PROJECT-23591561
  • [Journal Article] Clinical and genetic characteristics of XIAP deficiency in Japan2012

    • Author(s)
      Yang X, Kanegane H, Nishida N, Imamura T,Hamamoto K, Miyashita R, Imai K, Nonoyama S, Sanayama K, Yamaide A, Kato F, Nagai K, Ishii E, van Zelm MC, Latour S, Zhao XD, Miyawaki T.
    • Journal Title

      J Clin Immunol

      Volume: 32 Pages: 411-20

    • Data Source
      KAKENHI-PROJECT-23591561
  • [Journal Article] Early and rapid detection of X-linked lymphoproliferative syndrome with SH2D1A mutations by flow cytometry2011

    • Author(s)
      Zhao M, Kanegane H, Kobayashi C, Nakazawa Y, Ishii E, Kasai M, Terui K, Gocho Y, Imai K, Kiyasu J, Nonoyama S, Miyawaki T
    • Journal Title

      Cytometry B Clin Cytom

      Volume: 80 Pages: 8-13

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390213
  • [Journal Article] Quantification of κ-deleting recombination excision circles in Guthrie cards for the identification of early B-cell2011

    • Author(s)
      Nakagawa N,…, Takada H, et al
    • Journal Title

      J Allergy Clin Immunol

      Volume: 128 Issue: 1 Pages: 223-225

    • DOI

      10.1016/j.jaci.2011.01.052

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591363, KAKENHI-PROJECT-22390213, KAKENHI-PROJECT-23591561
  • [Journal Article] Analysis of mutations and recombination activity in RAG-deficient patients2011

    • Author(s)
      Asai E, Wada T, Sakakibara Y, Toga A, Toma T, Shimizu T, Nampoothiri S, Imai K, Nonoyama S, Morio T, Muramatsu H, Kamachi Y, Ohara O, Yachie A
    • Journal Title

      Clin Immunol

      Volume: 138 Pages: 172-177

    • NAID

      120002772030

    • Peer Reviewed
    • Data Source
      KAKENHI-PUBLICLY-22021049
  • [Journal Article] ADA-SCID with 'WAZA-ARI' mutations that synergistically abolished ADA protein stability2011

    • Author(s)
      Okura Y, Yamada M, Kobayashi I, Santisteban I, Arredondo-Santisteban G, Kato Z, Iguchi A, Yoshida M, Ohara O, Nakagawa N, Imai K, Hershfield MS, Ariga T
    • Journal Title

      Br J Haematol

      Volume: 153(5) Issue: 5 Pages: 675-6

    • DOI

      10.1111/j.1365-2141.2011.08640.x

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390213, KAKENHI-PROJECT-22591156
  • [Journal Article] Quantification of human herpesvirus-6 (HHV-6) DNA in a cord blood transplant recipient with chromosomal integration of HHV-62011

    • Author(s)
      Kobayashi D, Kogawa K, Imai K, Tanaka T, Hiroi S, Satoh H, Tanaka-Taya K, Nonoyama S
    • Journal Title

      Transpl Infect Dis

      Volume: 13 Pages: 650-653

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390213
  • [Journal Article] Early and rapid detection of X-linked lymphoproliferative syndrome with SH2D1A mutations by flow cytometry2011

    • Author(s)
      Zhao M, Kanegane H, Kobayashi C, Nakazawa Y, Ishii E, Kasai M, Terui K, Gocho Y, Imai K, Kiyasu J, Nonoyama S, Miyawaki T
    • Journal Title

      Cytometry B Clin Cytom

      Volume: 80 Pages: 8-13

    • Peer Reviewed
    • Data Source
      KAKENHI-PUBLICLY-22021049
  • [Journal Article] Quantification of κ-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects.2011

    • Author(s)
      Nakagawa N, Imai K, Kanegane H, Nonoyama S., et al.
    • Journal Title

      Journal of Allergy and Clinical Immunology

      Volume: (In press)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390213
  • [Journal Article] Quantification of s-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects.2011

    • Author(s)
      Nakaeawa N, Imai K, Kanegane H, Sate H, Yamada M, Kondoh K, Okada S, Kobayashi M, Agematsu K, Takada H, Mitsuiki N, Oshima K, Ohara O, Suri D, Rawat A, Singh S, Pan-Hammarstrom Q, Hammarstrom L, Reichenbach J, Seger R, Ariga T, Hara T, Miyawaki T, Nonovama_S.
    • Journal Title

      J Allergy Clin Immunol. Epub ahead of print.

    • Data Source
      KAKENHI-PROJECT-21791018
  • [Journal Article] Quantification of κ-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects.2011

    • Author(s)
      Nakagawa N, Imai K, Kanegane H, Nonoyama S., et al.
    • Journal Title

      Journal of Allergy and Clinical Immunology

      Volume: (In press)

    • Peer Reviewed
    • Data Source
      KAKENHI-PUBLICLY-22021049
  • [Journal Article] Nationwide Survey of Patients with Primary Immunodeficiency Diseases in Japan2011

    • Author(s)
      Ishimura M, Takada H, Doi T, Imai K, Sasahara Y, Kanegane H, Nishikomori R, Morio T, Heike T, Kobayashi M, Ariga T, Tsuchiya S, Nonoyama S, Miyawaki T, Hara T
    • Journal Title

      J Clin Immunol

      Volume: 31 Pages: 968-976

    • NAID

      120005133089

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390213
  • [Journal Article] Quantification ofκ-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects2011

    • Author(s)
      Nakagawa N, Imai K,Kanegane H, Sato H,Yamada M, Kondoh K,Okada S, Kobayashi M, Agematsu K,Takada H, Mitsuiki N, Oshima K, Ohara O, Suri D, Rawat A, Singh S, Pan-Hammarström Q, Hammarstrom L, Reichenbach J, Seger R, Ariga T, Hara T, Miyawaki T, Nonoyama S.
    • Journal Title

      J Allergy Clin Immunol

      Volume: 128(e2) Pages: 223-225

    • Data Source
      KAKENHI-PROJECT-23591561
  • [Journal Article] Analysis of mutations and recombination activity in RAG-deficient patients2011

    • Author(s)
      Asai E, Wada T, Sakakibara Y, Toga A, Toma T, Shimizu T, Nampoothiri S, Imai K, Nonoyama S, Morio T, Muramatsu H, Kamachi Y, Ohara O, Yachie A
    • Journal Title

      Clin Immunol

      Volume: 138 Issue: 2 Pages: 172-7

    • DOI

      10.1016/j.clim.2010.11.005

    • NAID

      120002772030

    • Data Source
      KAKENHI-PROJECT-22390213
  • [Journal Article] Analysis of mutations and recombination activity in RAG-deficient patients2011

    • Author(s)
      Asai E, Wada T,Sakakibara Y, Toga A, Toma T, Shimizu T, Nampoothiri S,Imai K, Nonoyama S,Morio T, Muramatsu H, Kamachi Y, Ohara O, Yachie A.
    • Journal Title

      Clin Immunol

      Volume: 138 Pages: 172-177

    • NAID

      120002772030

    • Data Source
      KAKENHI-PROJECT-23591561
  • [Journal Article] Quantification of κ-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects2011

    • Author(s)
      Nakagawa N, Imai K, Kanegane H, Sato H, Yamada M, Kondoh K, Okada S, Kobayashi M, Agematsu K, Takada H, Mitsuiki N, Oshima K, Ohara O, Suri D, Rawat A, Singh S, Pan-Hammarstrom Q, Hammarstrom L, Reichenbach J, Seger R, Ariga T, Hara T, Miyawaki T, Nonoyama S
    • Journal Title

      J Allergy Clin Immunol

      Volume: 128 Pages: 223-225

    • Peer Reviewed
    • Data Source
      KAKENHI-PUBLICLY-22021049
  • [Journal Article] Nationwide Survey of Patients with Primary Immunodeficiency Diseases in Japan2011

    • Author(s)
      Ishimura M, Takada H, Doi T, Imai K, Sasahara Y, Kanegane H, Nishikomori R, Morio T, Heike T, Kobayashi M, Ariga T, Tsuchiya S, Nonoyama S, Miyawaki T, Hara T
    • Journal Title

      J Clin Immunol

      Volume: 31 Pages: 968-976

    • NAID

      120005133089

    • Peer Reviewed
    • Data Source
      KAKENHI-PUBLICLY-22021049
  • [Journal Article] Quantification of K-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects.2011

    • Author(s)
      Nakagawa N, Imai K, Kanegane H, Sato H, Yamada M, Kondoh K, Okada S, Kobayashi M, Agematsu K, Takada H, Mitsuiki N, Oshima K, Ohara O, Suri D, Rawat A, Singh S, Pan-Hammarstrom Q, Hammarstrom L, Reichenbach J, Seger R, Ariga T, Hara T, Miyawaki T, Nonoyama S.
    • Journal Title

      Journal of Allergy and Clinical Immunology

      Volume: (未定)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21791018
  • [Journal Article] Nationwide Survey of Patients with Primary Immunodeficiency Diseases in Japan2011

    • Author(s)
      Ishimura M, 他
    • Journal Title

      Journal of clinical immunology

      Volume: (in press) Issue: 6 Pages: 968-976

    • DOI

      10.1007/s10875-011-9594-7

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21390310, KAKENHI-PROJECT-21591363, KAKENHI-PROJECT-22390213, KAKENHI-PROJECT-23659511
  • [Journal Article] Quantification of human herpesvirus-6 (HHV-6) DNA in a cord blood transplant recipient with chromosomal integration of HHV-62011

    • Author(s)
      Kobayashi D, Kogawa K, Imai K, Tanaka T, Hiroi S, Satoh H, Tanaka-Taya K, Nonoyama S
    • Journal Title

      Transpl Infect Dis

      Volume: 13 Pages: 650-653

    • Peer Reviewed
    • Data Source
      KAKENHI-PUBLICLY-22021049
  • [Journal Article] ADA-SCID with 'WAZA-ARI' mutations that synergistically abolished ADA protein stability2011

    • Author(s)
      Okura Y, Yamada M, Kobayashi I, Santisteban I, Arredondo-Santisteban G, Kato Z, Iguchi A, Yoshida M, Ohara O, Nakagawa N, Imai K, Hershfield MS, Ariga T.
    • Journal Title

      Br J Haematol

      Volume: 153 Pages: 675-676

    • Data Source
      KAKENHI-PROJECT-23591561
  • [Journal Article] Ataxia-telangiectasia in a patient presenting with hyper-immunoglobulin Msyndrome.2010

    • Author(s)
      Aghamohammadi A, Imai K, Moazzami K, Nonoyama S, et al.
    • Journal Title

      Journal of Investigational Allergology and Clinical Immunology

      Volume: 20(5) Pages: 442-5

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390213
  • [Journal Article] X-linked thrombocytopenia (XLT) due to WAS mutations:Clinical characteristics, long-term outcome and treatment options2010

    • Author(s)
      Albert MH, Bittner TC, Nonoyama S, Notarangelo LD, Burns S, Imai K, Espanol T, Fasth A, Pellier I, Strauss G, MorioT ,Gathmann B, Noordzij JG, Fillat C, Hoenig M, Nathrath M, Meindl A, Pagel P, Wintergerst U, Fischer A, Thrasher AJ, Belohradsky BH, Ochs HD
    • Journal Title

      Blood

      Volume: 115 Issue: 16 Pages: 3231-3238

    • DOI

      10.1182/blood-2009-09-239087

    • Data Source
      KAKENHI-PROJECT-22390213
  • [Journal Article] Ataxia-telangiectasia in a patient presenting with hyper-immunoglobulin Msyndrome.2010

    • Author(s)
      Aghamohammadi A, Imai K, Moazzami K, Nonoyama S, et al.
    • Journal Title

      Journal of Investigational Allergology and Clinical Immunology

      Volume: 20(5) Pages: 442-5

    • Peer Reviewed
    • Data Source
      KAKENHI-PUBLICLY-22021049
  • [Presentation] 新生児スクリーニング:タンデムマス法とDNA検査の融合「免疫不全症スクリーニングのインパクト)2023

    • Author(s)
      今井耕輔
    • Organizer
      第45回日本小児遺伝学会学術集会
    • Invited
    • Data Source
      KAKENHI-PROJECT-19K08316
  • [Presentation] どないすんねん!日本の新生児スクリーニングを考える「広がる!原発性免疫不全症スクリーニング」2022

    • Author(s)
      今井耕輔
    • Organizer
      第49回日本マススクリーニング学会学術集会
    • Invited
    • Data Source
      KAKENHI-PROJECT-19K08316
  • [Presentation] 免疫不全症新生児スクリーニングとその治療について2022

    • Author(s)
      今井耕輔
    • Organizer
      第11回中四国免疫不全症セミナー
    • Invited
    • Data Source
      KAKENHI-PROJECT-19K08316
  • [Presentation] 宮城県における原発性免疫不全症および脊髄性筋萎縮症の新生児マススクリーニング検査実績報告2022

    • Author(s)
      栗原愛、今井耕輔ら.
    • Organizer
      第49回日本マススクリーニング学会学術集会
    • Data Source
      KAKENHI-PROJECT-19K08316
  • [Presentation] LOCID(遅発型複合免疫不全症)の診断と治療2021

    • Author(s)
      今井耕輔
    • Organizer
      日本免疫不全・自己炎症学会 第4回総会・学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] テキスト含意認識AIを活用した原発性免疫不全症患者の判別分析2021

    • Author(s)
      遠藤明史,小戸司,今井耕輔,谷村秀規,岡田真一,関祐文,武田英之,森尾友宏
    • Organizer
      日本免疫不全・自己炎症学会 第4回総会・学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 移植後6ヶ月以降にドナーキメリズムの回復を認めたDNAリガーゼIV欠損症2021

    • Author(s)
      友政弾, 満生紀子, 磯田健志 森下あおい, 山下基, 友田昂宏, 岡野翼, 遠藤明史, 神谷尚宏, 梶原道子, 金兼弘和, 高木正稔, 今井耕輔, 森尾友宏
    • Organizer
      日本免疫不全・自己炎症学会 第4回総会・学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 今知っておきたい新生児マススクリーニングの進歩 原発性免疫不全症スクリーニングの現状と展望2021

    • Author(s)
      今井耕輔
    • Organizer
      日本小児科学会学術集会
    • Invited
    • Data Source
      KAKENHI-PROJECT-19K08316
  • [Presentation] リンパ節腫脹と自己抗体陽性を契機に診断に至った自己免疫性リンパ増殖症候群の1例2020

    • Author(s)
      Takuya Takahashi,Mikiya Endo,Daishi Hirai,Shoko Miura,Yoshiko Asakura,Yuuko Hayashi, Kotarou Oyama,Taketora Echizenya,Chikako Tono,Kohsuke Imai
    • Organizer
      第62回 日本小児血液・がん学会学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] Somatically reverted T cells in dedicator of cytokinesis 8 deficiency modify cellular immunity2020

    • Author(s)
      Okamura M, Tanita K, Takada H, Mitsui T,Minegishi Y,Imai K,Morio T, Kanegane H.
    • Organizer
      3rd Scientific Congress of Asia Pacific Society for Immunodeficiencies
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 活性化PI3K-delta症候群5例に対する造血細胞移植経験2020

    • Author(s)
      友田昂宏、岡野翼、森田俊平、今井耕輔、森尾友宏、ほか
    • Organizer
      第3回日本免疫不全・自己炎症学会総会・学術集会
    • Data Source
      KAKENHI-PROJECT-17H04233
  • [Presentation] 自己炎症疾患が疑われた3症例で同定されたTNFAIP3遺伝子の末報告非同義置換のin vitro機能解析2020

    • Author(s)
      門脇沙織, 大西秀典, 門脇朋範, 川本典生, 橋本邦生, 西村豊樹, 岡田賢, 鹿島田健一, 今井耕輔, 金兼弘和
    • Organizer
      第48回日本臨床免疫学会総会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 大腸菌性髄膜炎を3回反復した乳児例2020

    • Author(s)
      新妻隆広,大日方薫,清水俊明,遠藤明史,柳町昌克,今井耕輔
    • Organizer
      第52回日本小児感染症学会 総会・学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 1型糖尿病を合併した活性化PI3K-δ症候群2型の一例2020

    • Author(s)
      齋藤洋子, 高澤啓, 岡野翼, 神谷尚宏, 今井耕輔, 金兼弘和, 森尾友宏, 鹿島田健一
    • Organizer
      第93回日本内分泌学会学術総会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 免疫疾患の遺伝的背景 APRIL欠損症による新たな分類不能型免疫不全症の解析を通したヒト形質細胞分化についての検討2020

    • Author(s)
      Yeh Tzu-Wen, 岡野翼, 今井耕輔, 森尾友宏
    • Organizer
      第48回日本臨床免疫学会総会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 再発生MLL遺伝子再構成陽性乳児急性リンパ性白血病にt外資CAR-T療法を施行した一例2020

    • Author(s)
      Takahiro Tomoda, Takahiro Kamiya, Tsubasa Okano, Miho Ashiarai, Hiroki Yoshihara, Kohsuke Imai, Hirokazu Kanegane, Masatoshi Takagi, Daisuke Hasegawa, Tomohiro Morio
    • Organizer
      第62回日本小児血液・がん学会学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] Hematopoietic stem cell transplantation for severe combined immunodeficiency in Japan: a nationwide retrospective analysis2020

    • Author(s)
      Satoshi Miyamoto, Masakatsu Yanagimachi, Katsutsugu Umeda, Akihiro Iguchi, Yoji Sasahara, Hidetoshi Takada, Yoshiyuki Takahashi, Michiko Kajiwara, Masami Inoue, Koji Kato, Yoshiko Hashii, Yoshiko Atsuta, Hiromasa Yabe, Kohsuke Imai, Tomohiro Morio
    • Organizer
      46th Annual Meeting of the European Society for Blood and Marrow Transplantation (EBMT 2020 Virtual)
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] ALLの移植後再発に対し分子標的薬により寛解を得,PT-CY法で再移植した一例2020

    • Author(s)
      森下あおい, 山下基, 磯田健志, 友田昂宏, 岡野翼, 神谷尚宏, 遠藤明史, 柳町昌克, 今井耕輔, 金兼弘和, 高木正稔, 森尾友宏
    • Organizer
      第123回日本小児科学会学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 原発性免疫不全症新生児スクリーニングの医療経済学的評価2020

    • Author(s)
      遠藤明史,此村恵子,廣木遥,今井耕輔
    • Organizer
      第 47 回日本マススクリーニング学会学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] CARD9 DEFICIENCY IN A PATIENT WITH INVASIVE INFECTION DUE TO EXOPHIALA DERMATITIDIS AND THE ASYMPTOMATIC SIBLINGS2020

    • Author(s)
      Y. Imanaka, M. Taniguchi, T. Doi, M. Shimomura, M. Tsumura, S. Karakawa, K. Imai, T. Morio, A. Puel, J.-L. Casanova, O. Ohara, K. Kamei, M. Kobayashi, S. Okada
    • Organizer
      19th Biennial Meeting of The European Society of immunodeficiencies (ESID 2020)
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] X連鎖無ガンマグロブリン症患者におけるNon-Helicobacter pyrori Helicobacter 感染症の診断と治療の問題点2020

    • Author(s)
      井上健斗,佐々木彩恵子,八角高裕,今井耕輔,楠隆,森尾友宏,金兼弘和
    • Organizer
      第52回日本小児感染症学会総会・学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] PATIENTS WITH THE GAIN-OF-FUNCTION MUTATIONS IN STAT3 PRESENT WITH A VARIETY OF AUTOIMMUNE DISEASES2020

    • Author(s)
      K. Tanita, F. Sakura, M. Tsumura, H. Ohnishi, A. Hoshino, K. Suzuki, S. Okada, R. Nambu, S. Umetsu, K. Imai, T. Morio, H. Kanegane
    • Organizer
      19th Biennial Meeting of The European Society of immunodeficiencies (ESID 2020)
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] How I Approach A Patient With Combined Immunodeficiency?2020

    • Author(s)
      Imai K
    • Organizer
      3rd Scientific Congress of Asia Pacific Society for Immunodeficiencies.
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 原発性線毛機能不全症同胞例に対する高張食塩水吸入療法の有用性2020

    • Author(s)
      江口詩織, 磯田健志, 金田明也, 井上健斗, 星野顕宏, 滝島茂, 柳町昌克, 高木正稔, 金兼弘和, 今井耕輔, 竹内万彦, 森尾友宏
    • Organizer
      第123回日本小児科学会学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 高張食塩水吸入療法が奏効した原発性線毛機能不全症の兄弟例2020

    • Author(s)
      江口詩織, 磯田健志, 金田朋也, 井上健斗, 星野顕宏, 滝島茂, 柳町昌克, 高木正稔, 金兼弘和, 今井耕輔, 竹内万彦, 森尾友宏
    • Organizer
      第123回日本小児科学会学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] Hematopoietic stem cell transplantation for inborn errors of immunity in Japan: overview of a nationwide retrospective analysis2020

    • Author(s)
      Miyamoto S, Yanagimachi M, Umeda K, Iguchi A, Sasahara Y, Takada H, Yamada M, Ishimura M, Koike T, Yasui M, Takahashi Y, Kawaguchi H, Kajiwara M, Inoue M, Kato K, Hashii Y, Atsuta Y, Yabe H, Imai K , Morio T.
    • Organizer
      46th Annual Meeting of the European Society for Blood and Marrow Transplantation (EBMT 2020 Virtual)
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 神経症状・免疫不全を合併したPNKP欠損症姉妹例の病態解析2020

    • Author(s)
      渡部眞仁, 谷田けい, 岡野翼, 葉姿?, 重野美湖, 春日彩季, 時政定雄, 濱崎考史, 新宅治夫, 高木正稔, 今井耕輔, 森尾友宏
    • Organizer
      第123回日本小児科学会学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] Second transplantation rescued the graft failure after hematopoietic stem cell transplantation for a case of activated PI3K-delta syndrome type 22020

    • Author(s)
      Tomoda T, Okano T, Inoue K, Yamashita M, Kamiya T, Isoda T, Yanagimachi, M Kanegane H, Takagi M, Morio T, Imai K.
    • Organizer
      3rd Scientific Congress of Asia Pacific Society for Immunodeficiencies.
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 非悪性疾患を対象とした移植後シクロフォスファミドと抗胸腺グロブリンを併用したGVHD予防法によるHLA不一致血縁者間造血幹細胞移植の多施設共同前方視的臨床試験: Haplo-NM.2020

    • Author(s)
      加藤元博, 大隅朋生, 富澤大輔, 内山徹, 佐古、あゆみ, 井上永介, 瀧本哲也, 石川尊士, 河合利尚, 竹内一郎, 山田全毅, 出口隆生, 今井耕輔, 湯坐有希, 新井勝大, 今留謙一, 金兼弘和, 小野寺雅史, 松本公一
    • Organizer
      第3回日本免疫不全・自己炎症学会総会・学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] Viral infections in patients with hypogammaglobulinemia2020

    • Author(s)
      Imai K
    • Organizer
      3rd Scientific Congress of Asia Pacific Society for Immunodeficiencies.
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] Hematopoietic stem cell transplantation in PIDs2020

    • Author(s)
      Imai K
    • Organizer
      3rd Scientific Congress of Asia Pacific Society for Immunodeficiencies.
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] イントロン変異によるAR-STAT1完全欠損症の一例2020

    • Author(s)
      坂田園子, 岡田賢, 松林正, 玉浦萌, 唐川修平, 岡野翼, 今井耕輔, 森尾友宏, 小林正夫
    • Organizer
      第123回日本小児科学会学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 当科で経験したXIAP欠損症関連炎症性腸疾患について2020

    • Author(s)
      小野真太郎, 金兼弘和, 柳町昌克, 足洗美穂, 田中真理, 廣木遥, 井上健斗, 星野顕宏, 神谷尚宏, 満生紀子, 磯田健志, 高木正稔, 今井耕輔, 森尾友宏
    • Organizer
      第47回日本小児栄養消化器肝臓学会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 先天性免疫異常症(原発性免疫不全症)の国際分類up-to-date2020

    • Author(s)
      岡本圭祐, 今井耕輔, 森尾友宏.
    • Organizer
      第48回日本臨床免疫学会総会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] ろ紙血プロテオームを用いた原発性免疫不全症における新生児スクリーニングの可能性2020

    • Author(s)
      柴田洋史, 八角高裕, 前田由可子, 宮本尚幸, 伊佐真彦, 本田吉孝, 田中孝之, 井澤和司, 川島祐介, 大西秀典, 石村匡崇, 今井耕輔, 小野寺雅史, 小原收, 滝田順子
    • Organizer
      第123回日本小児科学会学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 冠動脈病変による心筋梗塞を契機に診断したA20ハプロ不全症の一成人例2020

    • Author(s)
      庭野智子、細矢匡、溝口史高、今井耕輔、森尾友宏、小池竜司
    • Organizer
      第3回日本免疫不全・自己炎症学会総会・学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] ヒト免疫異常症に対するリンパ球分化解析2020

    • Author(s)
      今井耕輔
    • Organizer
      第48回日本臨床免疫学会総会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 本邦初の常染色体劣性遺伝STAT1完全欠損症2020

    • Author(s)
      坂田園子、岡田賢、松林正、玉浦萌、津村弥来、唐川修平、岡野翼、今井耕輔、森尾友宏、Jean-Laurent Casanova、小林正夫
    • Organizer
      第3回日本免疫不全・自己炎症学会総会・学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] カナキヌマブが著効し投与中止が可能となったTRAPSの一男児例2020

    • Author(s)
      山崎晋, 真保麻実, 阿久津裕子, 岡本圭祐, 清水正樹, 今井耕輔, 森尾友宏, 森雅亮.
    • Organizer
      第48回日本臨床免疫学会総会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] CAR-T療法の実際:様々な状況下での経験を通して2020

    • Author(s)
      神谷尚宏, 友政禅, 友田昴宏, 山下基, 磯田健志, 今井耕輔, 金兼弘和, 高木正稔, 森尾友宏
    • Organizer
      第62回日本小児血液・がん学会学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 造血細胞移植によるXIAP欠損症関連炎症性腸疾患の治療2020

    • Author(s)
      Shintaro Ono, Takahiro Kamiya, Masakatsu Yanagimachi, Toshihiko Imamura, Yoji Sasahara, Junichi Sugita, Kohsuke Imai, Tomohiro Morio, Motohiro Kato, Hirokazu Kanegane
    • Organizer
      第62回日本小児血液・がん学会学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 重症感染症を繰り返すも病識が欠如し管理に難渋している高IgE症候群の一例2020

    • Author(s)
      江口詩織, 磯田健志, 金田朋也, 井上健斗, 星野顕宏, 滝島茂, 柳町昌克, 高木正稔, 金兼弘和, 今井耕輔, 竹内万彦, 森尾友宏
    • Organizer
      第123回日本小児科学会学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] TREC、KREC を用いた原発性免疫不全症新生児マススクリーニング法の開発:15,000 検体の解析結果2020

    • Author(s)
      廣木遥,遠藤明史,外丸靖浩,花井潤師,山田雅文, 大西秀典,深尾敏幸,森尾友宏 ,今井耕輔
    • Organizer
      第 47 回日本マススクリーニング学会学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] ステロイド抵抗性肺GVHDに対してルキソリチニブを使用した2例2020

    • Author(s)
      Dan Tomomasa, Takeshi Isoda, Motoi Yamashita, Aoi Morishita, Noriko Mitsuiiki, Takahiro Kamiya, Kohsuke Imai, Hirokazu Kanegane, Tomohiro Morio
    • Organizer
      第62回日本小児血液・がん学会学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 経口ロタウイルスワクチン株が検出された重症複合免疫不全症2020

    • Author(s)
      谷田けい,河村吉紀,友田昴宏,井上健斗,井口晶裕,山田雅文,吉田太郎,村松秀城,多田憲正,石村匡崇,大賀正一,今井耕輔,森尾友宏,吉川哲史,金兼弘和
    • Organizer
      第52回日本小児感染症学会 総会・学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] アトピー性皮膚炎と易感染症を呈し、CARD11変異が同定された2症例2020

    • Author(s)
      岡本圭祐、岡野翼、渡部眞仁、Tzu-Wen Yeh、大谷智子、野老翔雲、岡田賢、今井耕輔、森尾友宏
    • Organizer
      第3回日本免疫不全・自己炎症学会総会・学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 重症原発性免疫不全症新生児スクリーニングの実現に向けて2020

    • Author(s)
      今井耕輔
    • Organizer
      第227回大阪小児科学会
    • Data Source
      KAKENHI-PROJECT-19K08316
  • [Presentation] 微少血尿を契機に発見されたC9欠損症の1例2020

    • Author(s)
      大森多恵, 今井耕輔, 高橋匡輝, 大坂渓, 中崎公隆, 吉橋知邦, 平井聖子, 中村隆広, 玉木久光, 三澤正弘
    • Organizer
      第123回日本小児科学会学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 原発性免疫不全症に対する保険診療による遺伝子検査175例についての検討2020

    • Author(s)
      谷田けい、今井耕輔、岡野翼、成戸卓也、甲畑宏子、岡田賢、高木正稔、金兼弘和、森尾友宏
    • Organizer
      第3回日本免疫不全・自己炎症学会総会・学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] An intractable case of hyper IgE syndrome.2020

    • Author(s)
      Tomoda T, Okano T, Inoue K, Yamashita M, Kamiya T, Isoda T, Yanagimachi, M Kanegane H, Takagi M, Morio T, Imai K.
    • Organizer
      3rd Scientific Congress of Asia Pacific Society for Immunodeficiencies
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] PTCyハプロ移植症例の6例の後方視的検討2020

    • Author(s)
      Akifumi Endo, Motoi Yamashita, Takahiro Kamiya, Noriko Mitsuiki, Takeshi Isoda, Kohsuke Imai, Masatoshi Takagi, Michiko Kajiwara, Hirokazu Kanegane, Tomohiro Morio
    • Organizer
      第62回日本小児血液・がん学会学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 小児期にホジキンリンパ種を発症し、成人後に免疫グロブリン低下を指摘されALPS-FASと診断された一例2020

    • Author(s)
      Yohei Nishiyama, Etsushi Toyofuku, Tsubasa Okano, Motoi Yamashita, Takahiro Kamiya, Akifumi Endo, Hirokazu Kanegane, Masatoshi Takagi, Kohsuke Imai, Tomohiro Morio
    • Organizer
      第62回日本小児血液・がん学会学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] CLINICAL, IMMUNOLOGICAL, AND MOLECULAR FEATURES OF SEVERE COMBINED IMMUNE DEFICIENCY: A REPORT OF 87 PATIENTS FROM 3 TERTIARY CARE CENTRES IN INDIA2020

    • Author(s)
      P. Vignesh, A. Rawat, A. Singh, R. Kumrah, A. Gummadi, A. Kaur, S. Bhattad, A. Mehta, D. Suri, A. Jinda, D. Leung, S. Ramprakash, R. Cp, K.W. Chan, Y. Ogura, K. Imai, O. Ohara, S. Nonoyama, M. Hershfield, Y. Lau, S. Singh
    • Organizer
      19th Biennial Meeting of The European Society of immunodeficiencies (ESID 2020)
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] Japanese experience with UCBT in SCID2020

    • Author(s)
      Miyamoto T, Imai K
    • Organizer
      IEWP of EBMT
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] Common Variable Immunodeficiency2020

    • Author(s)
      Kohsuke Imai
    • Organizer
      第69回日本アレルギー学会学術大会
    • Invited
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] The first Cernunnos deficiency patient in Japan.2020

    • Author(s)
      Okamura M, Terada N, Mitsuiki N, Ishii T, Morio T, Imai K
    • Organizer
      3rd Scientific Congress of Asia Pacific Society for Immunodeficiencies
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 重症原発性免疫不全症新生児スクリーニングの実現に向けて2020

    • Author(s)
      今井耕輔
    • Organizer
      第227回大阪小児科学会
    • Invited
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] イカロス欠損症に合併した関節リウマチに対しアバタセプトを用いて寛解導入した一例2020

    • Author(s)
      吉村大、河野通仁、菅原正成、蜷川慶太、柴田悠平、藤枝雄一郎、加藤将、奥健志、アメングアル オルガ、保田晋助、山中純子、岡野翼、今井耕輔、森尾友宏、渥美達也
    • Organizer
      第3回日本免疫不全・自己炎症学会総会・学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] Cancer development in a Korean family with CTLA-4 haploinsufficiency2020

    • Author(s)
      Yoonsun Yoon, Ji-man Kang, Junsik Choi, Kangmo Ahn, Keon Hee Yoo, Eun-Suk Kang, Kyoung-Mee Kim, Jung Eun Lee, Geum-Youn gawk, Kihyun Kim, Kosuke Imai, Hirokazu Kanegane, Yae-jean Kim.
    • Organizer
      第3回日本免疫不全・自己炎症学会総会・学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] NEMO異常症の骨髄移植後二次性生着不全に対するPTCy法を用いたHLA半合致サルベージ移植2020

    • Author(s)
      Yumika Hoshina, Shizuka Kirino, Takahiro Tomoda, Motoi Yamashita, Tsubasa Okano, Takahiro Kamiya, Masatoshi Takagi, Kohsuke Imai, Hirokazu Kanegane, Tomohiro Morio
    • Organizer
      第62回日本小児血液・がん学会学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 活性化PI3K-delta症候群5例に対する造血細胞移植経験2020

    • Author(s)
      友田昂宏、岡野翼、森田俊平、西島暁彦、井上健斗、山下基、神谷尚宏、磯田健志、山本正英、柳町昌克、高木正稔、金兼弘和、今井耕輔、森尾友宏
    • Organizer
      第3回日本免疫不全・自己炎症学会総会・学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] GATA2異常症に伴うMDSに対するAzacitidineの有効性2019

    • Author(s)
      Issei Nunoda, Takahiro Tmoda, Takahiro Kmiya, Tsubasa Okano, Maho Hatano, Yuri Yoshimoto, Hideki Muramatu, Aoi Morishita, Kento Inoue, Motoi Yamashita, Akifumi Endo, Masakatsu Yanagimachi, Takeshi Isoda, Hirokazu Kanegane, Masatoshi Takagi, Kohsuke Imai, Tomohiro Morio
    • Organizer
      第61回日本小児血液・がん学会学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] GVHD治療中再発の難治性ALLに対するブリナツモマブ、イノツズマブオゾガマイシンの使用経験2019

    • Author(s)
      山下基,磯田健志,森下あおい,神谷尚宏,岡野翼,友田昴宏,遠藤明史,柳町昌克,今井耕輔,金兼弘和,高木正稔,森尾友宏
    • Organizer
      第11回日本血液疾患免疫療法学会学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] Down-regulation of protein translation by OAS1 missense mutants and the pathogenesis of human OAS1 related pulmonary alveolar proteinosis with hypogammaglobulinemia2019

    • Author(s)
      Tsubasa Okano、Eri Kumaki-Matsumoto、Makoto Otsu、Kohsuke Imai、Tomohiro Morio
    • Organizer
      第48回日本免疫学会総会学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 成人期に達し遅発型複合免疫不全症に移行したNFKB1異常症に対する同種造血幹細胞移植2019

    • Author(s)
      奥廣有喜,山崎夏維,谷村一輝,比良洸太,仁谷千賀,岡田恵子,藤崎弘之,岡本圭祐,岡 田 賢,重水大智,今井耕輔,森尾友宏,原 純一
    • Organizer
      第2回 日本免疫不全・自己炎症学会総会・学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 原発性免疫異常症の遺伝子診断:PIDJ ver.22019

    • Author(s)
      今井耕輔
    • Organizer
      第2回 日本免疫不全・自己炎症学会総会・学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] Multicolor flow cytometryによるA20ハプロ不全症患者のリンパ球サブセット の解析2019

    • Author(s)
      門脇朋範,大西秀典,金兼弘和,川本典生,堀 友博,今井耕輔,深尾敏幸
    • Organizer
      第2回 日本免疫不全・自己炎症学会総会・学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 原発性免疫不全症に対する保険診療による遺伝子検査140例についての検討2019

    • Author(s)
      谷田けい, 今井耕輔, 岡野翼, 成戸卓也, 甲畑宏子, 岡田賢, 高木正稔, 金兼弘和, 森尾友宏
    • Organizer
      日本人類遺伝学会第64回大会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 骨髄移植後のIgG2選択的低値時に発症した侵襲性肺炎球菌感染症2019

    • Author(s)
      坂川由里歌, 友田昂宏, 岡野翼, 森下あおい, 井上健斗, 山下基, 遠藤明史, 磯田健志, 神谷尚宏, 柳町昌克, 高木正稔, 金兼弘和, 今井耕輔, 竹下健一, 石和田稔彦, 森尾友宏
    • Organizer
      第61回日本小児血液・がん学会学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 免疫不全患者に対するマルチプレックスPCR法を用いた呼吸器感染症早期診断の臨床的有用性の検討2019

    • Author(s)
      遠藤明史,今井耕輔,井上健斗,岡野翼,清水則夫,寺田尚美,森下あおい,友田昴宏,山下基,柳田昌克,磯田健志,神谷尚宏,髙木正稔,金兼弘和,森尾友宏
    • Organizer
      第51回日本小児・感染症学会
    • Invited
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] Diagnostic Approach by Whole Exome Sequencing for 141 Patients of Inborn Errors of Immunity2019

    • Author(s)
      Okano T, Imai K, Naruto T, Okada S, Okamoto K, Yamashita M, Yeh T. W, Takagi M, Kanegane H, Morio T
    • Organizer
      19th Biennial Meeting of the European Society of Immunodeficiencies
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 悪性リンパ腫に対して化学療法を行った母体から出生し、低グロブリン血症を呈した児の1例2019

    • Author(s)
      伊藤一之,早田茉莉,箕面崎至宏,今井耕輔,森尾友宏
    • Organizer
      第122回日本小児科学会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 複合免疫不全症としてのICF症候群2019

    • Author(s)
      釜江智佳子、今井耕輔、加藤環、岡野翼、本間健一、中川紀子、Yeh Tzuwen、野口恵美子、小原収、佐々木裕之、久保田健夫、森尾友宏、金兼弘和、野々山恵章
    • Organizer
      第2回 日本免疫不全・自己炎症学会総会・学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] ウィスコット・アルドリッチ症候群の保因者診断を主とした遺伝カウンセリングの経験2019

    • Author(s)
      江川真希子,小峯真理子,辰巳嵩征,高峰えりこ,高橋沙矢子,甲畑宏子,今井耕輔,高木正稔,江花有亮,吉田正幸
    • Organizer
      日本人類遺伝学会第64回大会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] TRECとKRECを用いた重症原発性免疫不全症に対する新生児スクリーニングの実現に向けて2019

    • Author(s)
      今井耕輔
    • Organizer
      第46回日本マススクリーニング学会
    • Invited
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] The First Intronic Mutations Which Caused Autosomal Recessive Complete STAT1 Deficiency2019

    • Author(s)
      Sakata S, Okada S, Matsubayashi T, Tamaura M, Tsumura M, Okano T, Imai K, Bustamante J, Morio T, Casanova JL, Kobayashi M.
    • Organizer
      19th Biennial Meeting of the European Society of Immunodeficiencies
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] X連鎖無ガンマグロブリン症患者におけるHelicobacter cinaedi感染症2019

    • Author(s)
      井上健斗,佐々木彩恵子,八角高裕,今井耕輔,楠隆,森尾友宏,金兼弘和
    • Organizer
      第51回日本小児・感染症学会
    • Invited
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 自動核酸抽出機・TREC/KREC同時測定キットによるPIDスクリーニングの基礎検討2019

    • Author(s)
      花井潤師,田中稔泰,山田雅文,今井耕輔
    • Organizer
      第46回日本マススクリーニング学会
    • Invited
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 免疫不全患者に対するマルチプレックスPCR法を用いた呼吸器感染症早期診断の臨床的有用性の検討2019

    • Author(s)
      遠藤明史,今井耕輔,井上健斗,岡野翼,清水則夫,寺田尚美,森下あおい,友田昴宏,山下基,柳田昌克,磯田健志,神谷尚宏,髙木正稔,金兼弘和,森尾友宏
    • Organizer
      第61回日本小児血液・がん学会学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 腸管気腫を来した血液腫瘍性疾患・原発性免疫不全症の5例2019

    • Author(s)
      西村聡,足洗美穂,神谷尚宏,山本俊亮,山本薫,友田昴宏,井上真依子,井上健斗,宮本智史,小野林太郎,平林真介,磯田健志,柳町昌克,細谷要介,長谷川大輔,今井耕輔,高木正稔,金兼弘和,真部淳,森尾友宏
    • Organizer
      第122回日本小児科学会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 原発性免疫不全症に対するフルダラビン・ブスルファンとフルダラビン・メルファランの強度減弱前処置による造血細胞移植2019

    • Author(s)
      西村聡, 青木由貴, 石渡泰芳, 井上真依子, 市村卓也, 上山潤一, 松本和明, 井上健斗, 廣木遥, 小野真太郎, 岡野翼, 田中真理, 足洗美穂, 宮本智史, 宮脇零士, 山岸千佳, 手束真理, 大川哲平, 星野顕宏,今井耕輔、他
    • Organizer
      第2回 日本免疫不全・自己炎症学会総会・学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 本邦におけるICF症候群の臨床的および免疫学的検討2019

    • Author(s)
      釜江智佳子,今井耕輔,加藤環,岡野翼,本間健一,中川紀子,野口恵美子,久保田健夫,森尾友宏,金兼弘和,野々山恵章
    • Organizer
      第122回日本小児科学会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 慢性肉芽腫症に対する造血細胞移植成績に及ぼす遺伝子型の影響(JSHCTとPIDJ データ解析より)2019

    • Author(s)
      柳町昌克,布井博幸,水上智之,西村豊樹,佐々木康二,清谷知賀子,康勝好,井口晶裕,田淵健,井上雅美,加藤剛二,今井耕輔,矢部普正,小林正夫,森尾友宏
    • Organizer
      第41回日本造血細胞移植学会総会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] BTK転写調節の異常によるX連鎖無ガンマグロブリン血症の3家系2019

    • Author(s)
      石橋佑脩、岡野翼、谷田けい、磯田健志、小林法元、藤原享志、座波清誉、野々山恵章、今井耕輔、森尾友宏、金兼弘和
    • Organizer
      第2回 日本免疫不全・自己炎症学会総会・学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 急性骨髄性白血病からT細胞型急性リンパ性白血病へclonal evolutionを起こしたMLL-AF9陽性乳児白血病の一例2019

    • Author(s)
      Takahiro Tomoda, Akira Nishimura, Rintaro Ono, Takeshi Isoda, Maiko Inoue, Takahiro Kamiya, Masakatsu Yanagimachi,   Kohsuke Imai, Hirokazu Kanegane, Daisuke Hasegawa, Tomohiro Morio, Atsushi Manabe, Masatoshi Takagi
    • Organizer
      第61回日本小児血液・がん学会学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 非腫瘍性疾患に対する同種造血幹細胞移植においてGVHD が治療成績に与える影響2019

    • Author(s)
      梅田雄嗣,今井耕輔,柳町昌克,矢部普正,川口浩史,高橋義行,梶原道子,井上雅美,橋井佳子,熱田由子,森尾友宏
    • Organizer
      第41回日本造血細胞移植学会総会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] KBG症候群はDandy-Walker variantを合併する2019

    • Author(s)
      水野朋子, 山内泰輔, 鈴木智典, 鹿島田彩子, 岡野翼, 今井耕輔, 高木正稔, 野村莉紗, 渡辺章充
    • Organizer
      第61回日本小児神経学会学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 皮膚生検で著名なランゲルハンス細胞浸潤を認めた新規IL2RG変異Omenn症候群2019

    • Author(s)
      西川拓明, 指宿敦子, 今井耕輔, 金兼弘和, 河野嘉文
    • Organizer
      第2回 日本免疫不全・自己炎症学会総会・学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 造血細胞移植後に生じた腸管気腫症に対して間欠的酸素投与が有効であった3例2019

    • Author(s)
      足洗美穂, 西村聡, 神谷尚宏, 山本俊亮, 小野林太郎, 友田昴宏, 山本薫, 井上健斗, 井上真依子, 廣木遥, 宮本智史, 星野顕宏, 梅原直, 平林真介, 岡本健太郎, 柳町昌克, 磯田健志, 細谷要介, 長谷川大輔, 今井耕輔, 高木正稔, 金兼弘和, 森尾友宏, 真部淳
    • Organizer
      第41回日本造血細胞移植学会総会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 非血縁者間骨髄移植後早期にバンコマイシン自然耐性腸球菌性髄膜炎に罹患した活性型P13Kδ症候群2型の1例2019

    • Author(s)
      Maho Hatano, Takahiro Tomoda, Tsubasa Okano, Issei Nunoda, Aoi Morishita, Kento Inoue, Motoi Yamashita, Akifumi Endo, Takahiro Kamiya, Takeshi Isoda, Masakatsu Yanagimachi, Masatoshi Takagi, Hirokazu Kanegane, Keisuke Okuno,  Kohsuke Imai, Tomohiro Morio
    • Organizer
      第61回日本小児血液・がん学会学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] ドナーリンパ球輸注により寛解導入及び1年間の寛解を維持できた再発性T細胞型急性リンパ性白血病症例2019

    • Author(s)
      井上健斗, 神谷尚宏, 井上真依子, 星野顕宏, 磯田健志, 柳町昌克, 今井耕輔, 金兼弘和, 高木正稔, 森尾友宏
    • Organizer
      第61回日本小児血液・がん学会学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] Plasmacytoma-Like Post-Transplant Lymphoproliferative Disorder with Multiple Autoantibodies in a XIAP Deficient Patient2019

    • Author(s)
      Hoshino A, Okano T, Matsumoto K, Nishimura A, Shintaku H, Tokoro S, Okamoto H, Wada T, Mitsuiki N, Kajiwara M, Takagi M, Imai K, Kanegane H, Morio T
    • Organizer
      19th Biennial Meeting of the European Society of Immunodeficiencies
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] Wiskott-Aldrich症候群における血小板輸血不応に対する各種治療薬の効果と安全性の検討2019

    • Author(s)
      松本和明, 西村聡, 井上真依子, 井上健斗, 廣木遥, 小野真太郎, 岡野翼, 田中真理, 足洗美穂, 宮本智史, 宮脇零士, 山岸千佳, 手束真理, 大川哲平, 星野顕宏, 遠藤明史, 神谷尚宏, 青木由貴, 満生紀子, 小野敏明, 柳町昌克, 磯田健志, 富澤大輔, 長澤正之, 梶原道子, 高木正稔, 金兼弘和, 今井耕輔, 森尾友宏
    • Organizer
      第61回日本小児血液・がん学会学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 原発性免疫不全症と免疫療法2019

    • Author(s)
      岡本圭祐,柳町昌克,今井耕輔,森尾友宏
    • Organizer
      第47回日本臨床免疫学会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] APRIL deficiency as a cause of common variable immunodeficiency2019

    • Author(s)
      Yeh TW, Okano T, Okamoto K, Yamashita M, Takashima T, Mitsuiki N, Okada S, Kanegane H, Imai
    • Organizer
      第2回 日本免疫不全・自己炎症学会総会・学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] B前駆細胞性急性リンパ性白血病の移植後再発に対して、GVHDの治療を行いながらBlinatumomabを使用した一例2019

    • Author(s)
      森下あおい, 磯田健志, 山下基, 神谷尚宏, 岡野翼, 友田昂宏, 遠藤明史, 柳町昌克, 今井耕輔, 金兼弘和, 高木正稔, 森尾友宏
    • Organizer
      第61回日本小児血液・がん学会学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] ベドリズマブが奏功した難治性Crohn病様腸管GVHD2019

    • Author(s)
      布田一生、岡野翼、友田昴宏、神谷尚宏、柳町昌克、長堀正和、大塚和朗、高木正稔、金兼弘和、今井耕輔、森尾友宏
    • Organizer
      第10回関東甲越免疫不全症研究会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] B前駆細胞性急性リンパ性白血病の移植後再発に対して、Blinatumomab、ドナーリンパ球輸注、Inotuzumab ozogamicinを使用した後、post-transplant cyclophosphamideを用いて、HLA半合致移植を行った一例2019

    • Author(s)
      森下あおい,山下基,磯田健志,友田昴宏,岡野翼,神谷尚宏,柳町昌克,今井耕輔,金兼弘和,高木正稔,森尾友宏
    • Organizer
      第25回小児血液・SCT研究会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 非血縁者間骨髄移植後早期にバンコマイシン自然耐性腸球菌性髄膜炎に罹患した活性型P13Kδ症候群2型の1例2019

    • Author(s)
      Maho Hatano, Takahiro Tomoda, Tsubasa Okano, Kohsuke Imai, Tomohiro Morio, et al.
    • Organizer
      第61回日本小児血液・がん学会学術集会
    • Data Source
      KAKENHI-PROJECT-17H04233
  • [Presentation] TRECとCRECを用いた重症原発性免疫不全症に対する新生児スクリーニングの実現に向けて2019

    • Author(s)
      今井耕輔
    • Organizer
      第46回日本マススクリーニング学会
    • Invited
    • Data Source
      KAKENHI-PROJECT-19K08316
  • [Presentation] 小児交互性片麻痺・難治性てんかんに合併した低ガンマグロブリン血症2019

    • Author(s)
      有働みどり,羽賀洋一,松岡正樹,徳山美香,高橋浩之,清水教一,松裏裕行,館野昭彦,今井耕輔,根津敦夫
    • Organizer
      第122回日本小児科学会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 新たに診断した残存活性を有する遺伝性葉酸吸収不全症例と既報3症例との比較検討2019

    • Author(s)
      戸澤雄介,Abdrabou Shimaa,野川奈津子,西内津雄,石田敏章,佐野秀樹,鈴木雄一,小林良二,小原收,成戸卓也,今井耕輔,小林邦彦,有賀正,山田雅文
    • Organizer
      第2回 日本免疫不全・自己炎症学会総会・学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 家族歴により診断に至ったWiskott-Aldrich症候群(WAS)の新生児例2018

    • Author(s)
      岩永翔子,山内建,岩田はる香,四手井網則,滝敦子,今井耕輔
    • Organizer
      第63回日本新生児成育医学会・学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] PID research and clinical care in Japan2018

    • Author(s)
      Imai K
    • Organizer
      The 2nd Scientific Congress of Asia-Pacific Society for lmmunodeficiencies (APSID)
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 自己免疫性疾患患者における原発性免疫不全症合併例の後方視的分析2018

    • Author(s)
      岡本圭祐, 森雅亮, 松井利浩, 溝口史高, 星野顕宏, 今井耕輔, 上阪等, 森尾友宏
    • Organizer
      第46回日本臨床免疫学会総会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] Newborn Screening for primary immunodeficiency (PID) in Japan and Asia.European Society for Blood and Marrow Transplantation2018

    • Author(s)
      Imai K
    • Organizer
      IEWP(欧州骨髄移植学会及び欧州免疫不全症先天性疾患ワーキンググループ)
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 同じ遺伝子変異で異なる臨床病型を認めたhypomorphic RAG1 mutationsによる複合型免疫不全症の兄弟例2018

    • Author(s)
      上島洋二, 磯部勉, 小倉友美, 谷田けい, 寺田尚美, 古市美穂子, 佐藤智, 菅沼栄介, 康勝好, 高木正稔, 今井耕輔, 野々山恵章, 森尾友宏, 金兼弘和
    • Organizer
      第46回日本臨床免疫学会総会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 生殖細胞PAX5変異による家族性急性リンパ性白血病発症患者における免疫機能の評価2018

    • Author(s)
      高木正稔, 小川淳, 今井耕輔, 金兼弘和, 森尾友宏
    • Organizer
      第1回日本免疫不全・自己炎症学会総会学術集会
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] PIP3 関連分子異常による免疫不全症の病態~活性化 PI3Kδ症候群(APDS)とその類縁疾患~2018

    • Author(s)
      關中佳奈子, 辻田由喜, 關中悠仁, 加藤環, 座波清誉, 今井耕輔, 野々山恵章.
    • Organizer
      第1回日本免疫不全・自己炎症学会
    • Data Source
      KAKENHI-PROJECT-17H04233
  • [Presentation] 重症複合免疫不全症及び毛細血管拡張性運動失調症の迅速遺伝子診断2018

    • Author(s)
      小倉 友美,加藤 環、Rawat Amit、釜江 智佳子、今井 耕輔、野々山 恵章
    • Organizer
      第121回日本小児科学会学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 原発性免疫不全症に対するFluBUとFluMelによる前処置法に比較検討2018

    • Author(s)
      西村聡, 青木由貴, 石渡泰芳, 松本和明, 廣木遥, 小野真太郎, 岡野翼, 宮本智史, 足洗美穂, 星野顕宏, 田中真理, 宮脇零士, 小林千佳, 手束真理, 大川哲平, 満生紀子, 遠藤明史, 小野敏明, 磯田健志, 宮澤大輔, 長澤正之, 水谷修紀, 安原眞人, 梶原道子, 柳町昌克, 高木正稔, 金兼弘和, 今井耕輔, 森尾友宏
    • Organizer
      第40回日本造血細胞移植学会総会
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] 活性化PI3Kδ症候群1型に対するHLA一致非血縁者間骨髄移植2018

    • Author(s)
      廣木遥, 岡野翼, 今井耕輔, 井上真依子, 宮本智史, 井上健斗, 星野顕宏, 柳町昌克, 高木正稔, 梶原道子, 金兼弘和, 森尾友宏
    • Organizer
      第40回日本造血細胞移植学会総会
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] Newborn Screening of PID in Japan2018

    • Author(s)
      Imai K
    • Organizer
      7th Singapore Paediatric and Perinatal Annual Congress (SiPPAC)
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 小児特発性ネフローゼ症候群患者の腎組織におけるToll様受容体発現の検討2018

    • Author(s)
      田中絵里子, 高木正稔, 今井耕輔, 森尾友宏
    • Organizer
      第121回日本小児科学会学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] Reduced-intensity conditioning transplantation for X-inked lymphoroliferative syndrome type 12018

    • Author(s)
      Tamura A, Uemura S, Yamamoto N, Nakamura S, Fujiwara T, Tahara T, Saito A, Kozaki A, Kishimoto K, Ishida T, Hasegawa D, Hiroki H, Okano T, Imai K, Morio T, Kosaka Y, Kanegane H
    • Organizer
      第40回日本造血細胞移植学会総会
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] Hematopoietic stem cell transplantation for radiosensible severe combined immunodeficiency2018

    • Author(s)
      Imai K
    • Organizer
      APSID 2018 Summer School
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] アダリムマブを含む多剤併用にて寛解を得た難治性腸管ベーチェット病の2歳女児2018

    • Author(s)
      毛利万里子,森雅亮、金森透、岡本圭祐、田中絵里子、今井耕輔、森尾友宏、岡本 健太郎
    • Organizer
      第121回日本小児科学会学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] Cytomegalovirus laryngitis in primary combined immunodeficiency diseases2018

    • Author(s)
      Inoue M, Isoda T, Matsumoto K, Inoue K, Kamiya T, Yanagimachi M, Takagi M, Kanegane H, Imai K, Morio T
    • Organizer
      第50回日本小児感染症学会学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 低線量放射線とT細胞除去が非腫瘍性疾患に対する骨髄非破壊的前処置を用いた造血細胞移植に与える影響2018

    • Author(s)
      梅田 雄嗣, 矢部 普正, 加藤 剛二, 今井 耕輔, 小林 正夫, 高橋 義行, 井上 雅美, 橋井 佳子, 熱田 由子, 森尾 友宏
    • Organizer
      第80回日本血液学会学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] Primary Antibody Deficiencies2018

    • Author(s)
      Imai K
    • Organizer
      7th Singapore Paediatric and Perinatal Annual Congress (SiPPAC)
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] Diagnostic network of PID in Japan:PIDJ netwaork2018

    • Author(s)
      Imai K
    • Organizer
      第50回日本小児感染症学会
    • Invited
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] IgAおよびIgGサブクラス欠損症としてフォローされていたICF症候群の姉妹例2018

    • Author(s)
      本間あおい, 金兼弘和, 廣木遙, 岡野翼, 谷田けい, 今井耕輔, 高木正稔, 渡辺章充, 渡部誠一, 森尾友宏
    • Organizer
      第121回日本小児科学会学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] Antibody deficiency: a diagnostic and management challenge2018

    • Author(s)
      Imai K
    • Organizer
      APSID Autumn School
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 早産児等における原発性免疫不全症新生児スクリーニング法の検討2018

    • Author(s)
      勝屋恭子,伊藤一之,藤田華子,宮原宏幸,早田茉莉,佐藤千穂,箕面崎至宏,奥起久子,滝敦子,森丘千夏子,今井耕輔
    • Organizer
      第63回日本新生児成育医学会・学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] April Deficiency as a Cause of Common Variable Immunodeficiency2018

    • Author(s)
      Yeh T. W, Okano T, Okamoto K, Yamashita M, Takashima T, Mitsuki N, Okada S, Kanegane H, Imai K, Morio T
    • Organizer
      18th Biennial Meeting of the European Society of Immunodeficiencies
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] Droplet digital PCRを用いた造血細胞移植後キメリズム解析の有用性2018

    • Author(s)
      金兼弘和, 岡野翼, 辻田由喜, 関中佳奈子, 谷田けい, 宮本智史, Yeh Tzu Wen, 山下基, 寺田尚美, 小倉友美, 高木正稔, 今井耕輔, 野々山恵章, 森尾友宏
    • Organizer
      第40回日本造血細胞移植学会総会
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] APRIL deficiency as a cause of common variable immunodeficiency2018

    • Author(s)
      Yeh TW, Okano T, Okamoto K, Yamashta M, Takashima T, Mitusiki N, Okada S, Kaneganwe H, Imai K, Morio T
    • Organizer
      The 2nd APSID Scientific Congress
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] IKZF3ヘテロ結合型ミスセンス変異によるB細胞欠損症2018

    • Author(s)
      山下基, 満生紀子, 岡田賢, 井上裕三朗, 中世古知昭, Aditya K. Padhi, Kam Y Zhang, 小原收, 今井耕輔, 高木正稔, 金兼弘和, 谷内一郎, 森尾友宏
    • Organizer
      第1回日本免疫不全・自己炎症学会総会学術集会
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] 本邦におけるIPEX症候群に対する造血細胞移植2018

    • Author(s)
      井上健斗, 星野顕宏, 柳町昌克, 今井耕輔, 高木正稔, 新妻秀剛, 笹原洋二, 森健, 早川晶, 金兼弘和, 森尾友宏
    • Organizer
      第40回日本造血細胞移植学会総会
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] Hematopoietic stem cell transplantation for XIAP deficiency with chromosomally integrated human herpesvirus 62018

    • Author(s)
      Inoue k, Kamiya T, Miura H, Inoue M, Yanagimachi M, Park MJ, Imai K, Takagi M, Yoshikawa T, Kanegane H, Morio T
    • Organizer
      第50回日本小児感染症学会学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] RAS関連ALPS様疾患(RALD)モデルマウスを用いたリンパ球分化の解析2018

    • Author(s)
      林琳,今井耕輔,金兼弘和,森尾友宏,高木正稔
    • Organizer
      第1回日本免疫不全・自己炎症学会総会学術集会
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] Hematopoietic stem cell transplantation for primary immunodeficiency in Japan2018

    • Author(s)
      Imai K
    • Organizer
      KSPHO(韓国小児科学会)
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] 造血細胞移植後の閉塞性細気管支炎に対して生体片肺移植を施行したWiskott-Aldrich症候群の1例2018

    • Author(s)
      柳町昌克, 田中真理, 今井耕輔, 前田佳真, 西村聡, 星野顕宏, 満生紀子, 高木正稔, 梶原道子, 金兼弘和, 長澤正之, 岡本健太郎, 陳豊史, 伊達洋至, 森尾友宏
    • Organizer
      第40回日本造血細胞移植学会総会
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] Atypical SIFD patient without sideroblastic anemia with novel TRNT1 mutations: studies on molecular pathogenesis of B cell deficiency and periodic fever.2018

    • Author(s)
      Kumaki E、Tanaka K、Imai K、Aoki-Nogami Y、Ishikawa F、Morio T
    • Organizer
      第47回日本免疫学会総会学術集会
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] Evans症候群および低ガンマグロブリン血症を発症した歌舞伎症候群の一例2018

    • Author(s)
      蒸野寿紀,田村志宣,山下友佑,三嶋博之,南弘一,月野隆一,鈴木啓之,吉浦孝一郎,今井耕輔、森尾友宏,園木孝志
    • Organizer
      第1回日本免疫不全・自己炎症学会総会学術集会
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] WHIM症候群8例の臨床的特徴、免疫学的解析について2018

    • Author(s)
      座波清誉,加藤環,今井耕輔,森尾友宏,上田耕一郎,谷内昇一郞,川原勇太,森本哲,樋渡光輝,片岡伸介,村松秀城,大杉夕子,野々山恵章
    • Organizer
      第1回日本免疫不全・自己炎症学会総会学術集会
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] 免疫不全の新生児マススクリーニング2018

    • Author(s)
      今井耕輔
    • Organizer
      第121回日本小児科学会学術集会
    • Invited
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] Whole exome sequence analysis using the known and candidate genes for primary immunodeficiency diseases2018

    • Author(s)
      Okamoto K, Shigemizu D, Okano T, Yeh TW, Takashima T, Yamashita M, Ono S, Mitsuiki N, Takagi M, Mori M, Kanegane H, Tsunoda T, Imai K, Morio T
    • Organizer
      The 2nd APSID Scientific Congress
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] PIDJ: primary immunodeficiency in Japan project2018

    • Author(s)
      Imai K
    • Organizer
      2018 Samsung Medical Center Primary Immunodeficiency Symposium
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K07814
  • [Presentation] STAT1機能獲得型変異による原発性免疫不全症患者に対する造血細胞移植の有効性と問題点の検討2018

    • Author(s)
      岡田賢,Jennifer Leiding,Troy Torgerson,今井耕輔,井口晶裕,有賀正,森尾友宏,小林正夫
    • Organizer
      第40回日本造血細胞移植学会総会
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] Successful cord blood transplantation in a patient with adult-onset common variable immunodeficiency2018

    • Author(s)
      田村志宣,春谷勇平,小畑裕史,山下友佑,蒸野寿紀,細井裕樹,村田祥吾,西川彰則,吉浦孝一郎,今井耕輔,森尾友宏,園木孝志
    • Organizer
      第1回日本免疫不全・自己炎症学会総会学術集会
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] SCID:重症複合免疫不全症、その新生児マススクリーニングと治療2017

    • Author(s)
      今井耕輔
    • Organizer
      第59回日本小児血液・がん学会学術集会
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] 初発より10年後に再発が認められた髄芽腫の一例2017

    • Author(s)
      宮本智史, 井上真依子, 廣木遥, 井上健斗, 星野顕宏, 柳町昌克, 今井耕輔, 高木正稔, 金兼弘和, 梶原道子, 森尾友宏
    • Organizer
      第47回小児血液腫瘍症例検討会
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] 機能獲得型変異による慢性炎症と免疫不全症2017

    • Author(s)
      今井耕輔
    • Organizer
      第45回日本臨床免疫学会
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] ネララビンを含む多剤併用化学療法中に歩行不可能となったT細胞性リンパ腫白血病の1例2017

    • Author(s)
      田中真理, 西村聡, 山下基, 岡野翼, 宮本智史, 星野顕宏, 満生紀子, 柳町昌克, 今井耕輔, 高木正稔, 金兼弘和, 森尾友宏
    • Organizer
      第59回日本小児血液・がん学会学術集会
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] Combined Immunodeficiency and Progressive Lymphoproliferative Diseases of Activated P13Kγ Syndrome Rescued by Hematopoietic2017

    • Author(s)
      Okano T, Imai K, Mitui-Sekinaka K, Yeh T.W, Takashima T, Kanegane H, Nonoyama S, Morio T
    • Organizer
      ESID 2017
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] EBウイルス関連血球貧食性リンパ組織球症におけるT細胞受容体レパトア解析2017

    • Author(s)
      澤田淳, 岡野翼, Yeh Tzu Wen, 今留謙一, 今井耕輔, 金兼弘和, 森尾友宏
    • Organizer
      第120回日本小児科学会学術集会
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] 多施設共同研究による A20ハプロ不全症の国内症例の 病態解析2017

    • Author(s)
      大西秀典,門脇朋範,川本典生,堀友博,西村謙一,小林千恵,重村倫成,緒方昌平,井上祐三朗,河合朋樹,日衛嶋栄太郎,高木正稔,今井耕輔,西小森隆太,伊藤秀一,平家俊男,小原收,森尾友宏,深尾敏幸,金兼弘和
    • Organizer
      第45回日本臨床免疫学会
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] X連鎖リンパ増殖症候群2型におけるHHV-6 DNA高コピー数は再活性化か?2017

    • Author(s)
      井上健斗, 星野顕宏, 三浦浩樹, 朴明子, 今井耕輔, 吉川哲史, 金兼弘和, 森尾友宏
    • Organizer
      第49回日本小児感染症学会学術集会
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] X連鎖性高IgM症候群に対する強度減弱前処理による造血細胞移植.2017

    • Author(s)
      西村聡, 星野顕宏, 松本和明, 小野真太郎, 田中真理, 足洗美穂, 満生紀子, 宮村能子, 橋井佳子, 磯田健志, 柳町昌克, 梶原道子, 高木正稔, 今井耕輔, 金兼弘和, 森尾友宏.
    • Organizer
      第39回日本造血細胞移植学会総会
    • Place of Presentation
      くにびきメッセ・島根県民会館(島根県・松江市)・
    • Year and Date
      2017-03-03
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] 風疹ワクチン持続感染を伴ったLIG4症候群に対する最滅弱前処置による骨髄移植2017

    • Author(s)
      松本和明, 西村聡, 星野顕宏, 田中真理, 満生紀子, 柳町昌克, 今井耕輔, 高木正稔, 金兼弘和, 森尾友宏
    • Organizer
      第120回日本小児科学会学術集会
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] 造血幹細胞移植による XIAP 欠損症関連炎症性腸疾患の 治療2017

    • Author(s)
      小野真太郎,金兼弘和,柳町昌克,岡野翼,星野顕宏,高木正稔,今井耕輔,森尾友宏
    • Organizer
      第45回日本臨床免疫学会
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] Newborn Screening of PID in japan2017

    • Author(s)
      今井耕輔
    • Organizer
      APSID 2017 Autumn School
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] 免疫不全症に対する新生児マススクリーニング2017

    • Author(s)
      今井耕輔
    • Organizer
      第44回日本マススクリーニング学会
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] A Nation-wide Survey of Haploinsufficiency of A20 Reveals the Frequent Coincidence of Autoimmunity in Japan2017

    • Author(s)
      Kadowaki T, Ohnishi H, Kanegane H, Kawamoto N, Hori T, Nishimura K, Kobayashi C, Shigemura T, Ogata S, Inoue Y, Kawai T, Hiejima E, Takagi M, Imai K, Nishikomori R, Ito S, Heiki T, Ohara O, Morio T, Fukao T
    • Organizer
      ESID 2017
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] リンパ節腫大を契機に見つかったCTLA4ハプロ不全症2017

    • Author(s)
      吉本優里, 山中純子, 末永祐太, 田中瑞恵, 瓜生英子, 平井理央, 佐藤典子, 星野顕宏, 今井耕輔, 金兼弘和, 七野浩之
    • Organizer
      第59回日本小児血液・がん学会学術集会
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] 多彩な自己免疫疾患を合併するSTAT3機能獲得変異2017

    • Author(s)
      谷田けい, 星野顕宏, 今井耕輔, 岡田賢, 大西秀典, 鈴木孝二, 南部隆亮, 森雅亮, 金兼弘和, 森尾友宏
    • Organizer
      第27回日本小児リウマチ学会総会・学術集会
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] HSCT for PID:over 30 years of experience in japan2017

    • Author(s)
      Imai K
    • Organizer
      APSID 2017 summer school
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] 原発性免疫不全症・自己炎症性疾患において考慮すべき遺伝医療の特性と課題2017

    • Author(s)
      今井耕輔
    • Organizer
      第59回日本小児血液・がん学会学術集会
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] Very late relapseを起こしたヘルペス脳炎の1例2017

    • Author(s)
      佐藤健、安達恵利子、滝島茂、菅原祐之、長谷川毅、土屋史郎、今井耕輔、森尾友宏
    • Organizer
      第49回日本小児感染症学会学術集会
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] 播種性フザリウム感染症を合併した重症先天性好中球減少症の一例2017

    • Author(s)
      井上麻衣子,星野顕宏,松本和明,西村聡,柳町昌克,高木正稔,金兼弘和,今井耕輔,森尾友宏
    • Organizer
      第59回日本小児血液・がん学会学術集会
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] A Case of Non-Pulmonary Sarcoidosis Due to Novel Hypomorphic Missense Mutation of NCF22017

    • Author(s)
      Okamoto K, Okano T, Kumaki E, Tanaka E, Ono S, Wada T, Ohnishi H, Kato Z, Nunoi N, Imai K, Kanegane H, Mori M, Morio T
    • Organizer
      ESID 2017
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] スペクトル型セルアナライザーを用いた ヒト免疫細胞分化状態診断法の検討2017

    • Author(s)
      今井耕輔,寺田尚美,森尾友宏
    • Organizer
      第45回日本臨床免疫学会
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] Inflammatory Bowel Disease Associated with XIAP Deficiency can be cured by Hematopoietic Stem Cell Transplantation2017

    • Author(s)
      Ono S, Yanagimachi M, Okano T, Hoshino A, Takagi M, Imai K, Morio T, Kanegane H
    • Organizer
      ESID 2017
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] 頻回再発に対する複数回造血細胞移植により寛解を維持している乳児白血病の7歳女児例2017

    • Author(s)
      宮本智史, 高木正稔, 西村聡, 田中真理, 小野真太郎, 足洗美穂, 満生紀子, 星野顕宏, 柳町昌克, 青木由貴, 宮澤大輔, 今井耕輔, 梶原道子, 金兼弘和, 森尾友宏
    • Organizer
      第59回日本小児血液・がん学会学術集会
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] IL2RG遺伝子のsynonymous変異によりスプライス異常をきたした非典型γc欠損症2017

    • Author(s)
      若月良介、今井耕輔、加藤環、山西愼吾、真弓暢子、田中真百合、山下基、金兼弘和、野々山恵章、森尾友宏
    • Organizer
      第120回日本小児科学会学術集会
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] 移植後中心静脈栄養依存となったのち、右心房内fibrin血栓症を発症したNEMO異常症の一例2017

    • Author(s)
      廣木遥, 今井耕輔, 宮本智史, 井上真依子, 田中真理, 星野顕宏, 柳町昌克, 高木正稔, 梶原道子, 金兼弘和, 森尾友宏
    • Organizer
      第59回日本小児血液・がん学会学術集会
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] 反復する単純ヘルペスウイルス感染、爪白癬、脱毛を特徴とするNF-kB2欠損症(CVID10)の1例2017

    • Author(s)
      加藤環, 森口直彦, Yeh Tzu Wen, 岡野翼, 金兼弘和, 今井耕輔, 森尾友宏
    • Organizer
      第49回日本小児感染症学会学術集会
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] 細菌性肺炎を発症したX連鎖慢性肉芽腫症保因者2017

    • Author(s)
      谷田けい、星野顕宏、柳町昌克、今井耕輔、呉宗憲、川島尚志、西村豊樹、布井博幸、金兼弘和、森尾友宏
    • Organizer
      第49回日本小児感染症学会学術集会
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] EBウイルス関連リンパ増殖症に対する網羅的診断方法の有用性2017

    • Author(s)
      小野真太郎, 金兼弘和. 星野顕宏, 岡野翼, 今井耕輔, 中山学, 小原收, 森尾友宏
    • Organizer
      第49回日本小児感染症学会学術集会
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] Broad Spectrum of Clinical Manifestations and Outcome of Hematopoietic Stem Cell Transplantation in Japanese Patients with Activated P13KD Syndrome Type1.2016

    • Author(s)
      Okano T, Imai K, Tsujita Y, Mitsuiki , Mitsui-Sekinaka K, Takashima T, Kanegane H, Nonoyma S.
    • Organizer
      ASPID Spring School
    • Place of Presentation
      香港大学(香港)
    • Year and Date
      2016-04-29
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] IKBA遺伝子異常による無汗性外胚葉形成不全症の一例.2016

    • Author(s)
      鎌田亜希子,石毛崇,八木久子,滝沢琢己,荒川浩一,河合朋樹,今井耕輔
    • Organizer
      第119回日本小児科学会学術集会
    • Place of Presentation
      ロイトン札幌(北海道・札幌市)
    • Year and Date
      2016-05-13
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] 免疫不全を伴ったRAD50異常症の一例.2016

    • Author(s)
      星野顕宏、金兼弘和、森尾友宏、今井耕輔、高木正稔、他
    • Organizer
      第9回日本免疫不全症研究会学術集会
    • Place of Presentation
      ベルサール東京日本橋(東京都中央区)
    • Year and Date
      2016-01-23
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] Primary antibody deficiency in Japan:overview and P13K related disorders.2016

    • Author(s)
      Imai K
    • Organizer
      XLP-WAS 2016 Symposium-London
    • Place of Presentation
      イギリス(ロンドン)
    • Year and Date
      2016-09-27
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] 軽度T細胞機能不全とNK細胞数を呈し、エクソーム解析にてIL2RG新規変異を同定した兄弟例.2016

    • Author(s)
      關中佳奈子、加藤環、關中悠仁、野々山恵章、今井耕輔、他.
    • Organizer
      第9回日本免疫不全症研究会学術集会
    • Place of Presentation
      ベルサール東京日本橋(東京都中央区)
    • Year and Date
      2016-01-23
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] 放射線感受性高IgM症候群原因遺伝子の同定.2016

    • Author(s)
      今井耕輔
    • Organizer
      第119回日本小児科学会学術集会
    • Place of Presentation
      ロイトン札幌(北海道・札幌市)
    • Year and Date
      2016-05-13
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] IkB-αS32 Mutations Underly Ectodermal Dysplasia with Immunodeficiency Manifestations and Correlation with Immunological Parameters.2016

    • Author(s)
      Moriya K, Tanita K, Ohnishi H, Niizuma H, Rikiishi T, Nishikomori R, Ishige T, Imai K, Kanegane H, Sasahara Y, Arakawa H, Kure S, Morio T.
    • Organizer
      17th Biennial Meeting of the European Society for Immunodeficiencies
    • Place of Presentation
      スペイン(バルセロナ)
    • Year and Date
      2016-09-21
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] IKBA遺伝子異常による免疫不全症を伴う無汗性外胚葉形成不全症(EDA-ID)に合併した腸炎の一例2016

    • Author(s)
      五十嵐淑子, 石毛崇, 西田豊, 鎌田亜希子, 八木久子, 滝沢琢己, 荒川浩一, 河合朋樹, 今井耕輔, 河合利尚
    • Organizer
      第43回日本小児栄養消化器肝臓学会
    • Place of Presentation
      つくば国際会議場(茨城県・つくば市)
    • Year and Date
      2016-09-17
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] HYPER-IGM SYNDROMES DUE TO CSR DEFECTS-HOW TO TREAT ACCORDING TO GENETIC SUBTYPES?2016

    • Author(s)
      Imai K
    • Organizer
      ASPID Spring School
    • Place of Presentation
      香港大学(香港)
    • Year and Date
      2016-04-29
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] ニューモシスチス肺炎を契機に2系統血球減少を伴う重症複合免疫不全症の診断に至り、造血幹細胞移植を施行した10歳女児例.2016

    • Author(s)
      岡田玲緒奈、日野もえ子、井上祐三郎、奥主朋子、藤田雄治、下条直樹、山下基、今井耕輔、金兼弘和、森尾友宏、他
    • Organizer
      第9回日本免疫不全症研究会学術集会
    • Place of Presentation
      ベルサール東京日本橋(東京都中央区)
    • Year and Date
      2016-01-23
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] 39歳時に初めて診断に至ったCD40L欠損症の一例2016

    • Author(s)
      松田裕介,小泉瑛子,村岡正裕,白橋徹志郎,栂暁子,岡本浩之,和田泰三,東馬智子,谷内江昭宏,田中桂輔,今井耕輔,金兼弘和,森尾友宏,
    • Organizer
      第48回日本小児感染症学会学術集会
    • Place of Presentation
      岡山コンベンションセンター(岡山県・岡山市)
    • Year and Date
      2016-11-19
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] 汎発性疣贅を呈し、IL2RG遺伝子のsynonymouse変異によりスプライス異常をきたしたγC欠損症の16歳男児例.2016

    • Author(s)
      山下基、今井耕輔、岡野翼、田中圭輔、葉姿&#27766;、星野顕宏、金兼弘和、森尾友宏、他.
    • Organizer
      第9回日本免疫不全症研究会学術集会
    • Place of Presentation
      ベルサール東京日本橋(東京都中央区)
    • Year and Date
      2016-01-23
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] 活性化PI3Kdelta症候群におけるラパマイシンによるT細胞の制御.2016

    • Author(s)
      齋藤優実、内山徹、後藤文洋、渡辺信之、中澤裕美子、河合利尚、長田香代、小野寺史、今井耕輔、他.
    • Organizer
      第9回日本免疫不全症研究会学術集会
    • Place of Presentation
      ベルサール東京日本橋(東京都中央区)
    • Year and Date
      2016-01-23
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] Activated PI3Kδ syndromeにおけるB細胞でのAKTの過剰リン酸化についての検討.2016

    • Author(s)
      浅野孝基,岡田賢,津村弥来,小林正夫,葉姿文,今井耕輔,森尾友宏,関中佳奈子,辻田由喜,野々山恵章
    • Organizer
      第119回日本小児科学会学術集会
    • Place of Presentation
      ロイトン札幌(北海道・札幌市)
    • Year and Date
      2016-05-13
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] Activated P13 Kinase Delta Syndrome (APDS)-Like Immunodeficiency Caused by PTEN Mutation2016

    • Author(s)
      Mitsui-Sekinaka K, Imai K, Tsujita Y, Mitsuiki N, Asano T, Sekinaka Y, Kanegane H, Yoshida K, Miyano S, Kojima S, Ogawa S, Ohara O, Okada S, Kobayashi M, Takagi M, Morio T, Nonoyama S.
    • Organizer
      17th Biennial Meeting of the European Society for Immunodeficiencies
    • Place of Presentation
      スペイン(バルセロナ)
    • Year and Date
      2016-09-21
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] 低または無ガンマグロブリン血症50例に対する皮下注用人免疫グロブリン製剤導入2016

    • Author(s)
      足洗美穂,金兼弘和,今井耕輔,木村菜美子,陳菜穂,岡野翼,小野真太郎,田中真理,宮本智史,小林千佳,満生紀子,青木由貴,田中絵里子,高木正稔,森尾友宏.
    • Organizer
      第7回関東甲越免疫不全症研究会
    • Place of Presentation
      ステーションコンファレンス東京(東京都・千代田区)
    • Year and Date
      2016-09-18
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] CTLA-4ハプロ不全による原発性免疫不全症の9例.2016

    • Author(s)
      早川誠一、岡田賢、土居岳彦、小林正夫、星野顕宏、高木正稔、今井耕輔、金兼友宏、森尾友宏、他
    • Organizer
      第9回日本免疫不全症研究会学術集会
    • Place of Presentation
      ベルサール東京日本橋(東京都中央区)
    • Year and Date
      2016-01-23
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] 小児感染免疫領域に必要な診療支援ネットワーク PIDJネットワーク2015

    • Author(s)
      今井耕輔
    • Organizer
      第47回 小児感染症学会
    • Place of Presentation
      ザ・セレクトン福島(福島県福島市)
    • Year and Date
      2015-10-31
    • Invited
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] 原発性免疫不全症10例に対するFluBUを用いた前処置による造血幹細胞移植2015

    • Author(s)
      青木由貴、今井耕輔、岡野翼、宮本 智史、森尾友宏、 et al.
    • Organizer
      第37回造血幹細胞移植学会
    • Place of Presentation
      神戸国際会議場(神戸市中央区)
    • Year and Date
      2015-03-06
    • Data Source
      KAKENHI-PROJECT-26461567
  • [Presentation] 炎症性腸疾患を合併したXIAP 欠損症患者に対する骨髄移植成功例Successful bone marrow transplantation in an XIAP-deficient patient associated with inflammatory bowel disease2015

    • Author(s)
      小野真太郎、金兼弘和、我有茉希、久保田真理、足洗美穂、宮本智史、小林千佳、満生紀子、今井耕輔、高木正稔、梶原道子、森尾友宏
    • Organizer
      第57回日本小児血液・がん学会学術集会
    • Place of Presentation
      甲府富士屋ホテル(山梨県甲府市)
    • Year and Date
      2015-11-27
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] 自己免疫性リンパ増殖性(ALPS)様疾患に対する全エクソン解析2015

    • Author(s)
      高木正稔、今井耕輔、朴今花、山下基、星野顕宏、岡野翼、金兼弘和、村松秀城、奥野友介、吉田健一、上野浩生、白石友一、千葉健一、田中洋子、宮野悟、小川誠司、林泰秀、小島勢二、森尾友宏.
    • Organizer
      第6回関東甲越免疫不全症研究会
    • Place of Presentation
      東京医科歯科大学(東京都文京区)
    • Year and Date
      2015-09-27
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] XIAP欠損症に伴う炎症性腸疾患2015

    • Author(s)
      岡野翼、金兼弘和、小野真太郎、足洗美穂、小林千佳、星野顕宏、満生紀子、青木由貴、高木正稔、今井耕輔、森尾友宏
    • Organizer
      第25回日本小児リウマチ学会総会・学術集会
    • Place of Presentation
      金沢歌劇座 (金沢市)
    • Year and Date
      2015-10-10
    • Data Source
      KAKENHI-PROJECT-26461567
  • [Presentation] IgGサブクラス欠損を呈する原発性免疫不全症の診断と治療(口頭)2015

    • Author(s)
      今井耕輔
    • Organizer
      第47回 小児感染症学会
    • Place of Presentation
      ザ・セレクトン福島(福島県福島市)
    • Year and Date
      2015-10-31
    • Invited
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] 炎症性腸疾患を合併したXIAP 欠損症患者に対する骨髄移植成功例2015

    • Author(s)
      小野真太郎、金兼弘和、我有茉希、久保田真理、足洗美穂、宮本智史、小林千佳、満生紀子、今井耕輔、高木正稔、梶原道子、森尾友宏
    • Organizer
      第57回日本小児血液・がん学会学術集会
    • Place of Presentation
      甲府富士屋ホテル (甲府市)
    • Year and Date
      2015-11-29
    • Data Source
      KAKENHI-PROJECT-26461567
  • [Presentation] IKBA遺伝子異常による無汗性外胚葉形成不全症の一例2015

    • Author(s)
      西田豊、鎌田亜希子、石毛崇、八木久子、滝沢琢己、荒川浩一、河合朋樹、今井耕輔、河合利尚
    • Organizer
      第6回関東甲越免疫不全症研究会
    • Place of Presentation
      ステーションコンファレンス東京 (東京都千代田区)
    • Year and Date
      2015-09-27
    • Data Source
      KAKENHI-PROJECT-26461567
  • [Presentation] 当院で経験した分類不能型免疫不全症の妊娠・出産に関する検討2015

    • Author(s)
      江川真希子,今井耕輔,満生紀子,森尾友宏,宮坂尚幸
    • Organizer
      第43回日本臨床免疫学会
    • Place of Presentation
      神戸国際会議場(兵庫県神戸市)
    • Year and Date
      2015-10-22
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] 肝脾腫・高IgG血症を呈した9ヶ月男児2015

    • Author(s)
      岡野翼、渡辺恵理、西川拓郎、友田昴宏、久保田真理、宮本智史、高島健浩、満生紀子、高木正稔、今井耕輔、金兼弘和、河野嘉文、森尾友宏.
    • Organizer
      第6回関東甲越免疫不全症研究会
    • Place of Presentation
      東京医科歯科大学(東京都文京区)
    • Year and Date
      2015-09-27
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] 原発性免疫不全症に対する Fludarabine + Busulfan を前処置とした造血幹細胞移植の成績と問題点2015

    • Author(s)
      今井耕輔
    • Organizer
      第1回造血細胞移植合同班会議
    • Place of Presentation
      名古屋第一赤十字病院 (名古屋市中村区)
    • Year and Date
      2015-07-04
    • Data Source
      KAKENHI-PROJECT-26461567
  • [Presentation] 肉芽腫性病変合併のCVIDとして治療を行っていたCTLA4遺伝子異常症の1例2015

    • Author(s)
      檜佐香織、鹿間芳明、野村滋、今川智之、今井耕輔、金兼弘和、森尾友宏
    • Organizer
      第6回関東甲越免疫不全症研究会
    • Place of Presentation
      東京医科歯科大学(東京都文京区)
    • Year and Date
      2015-09-27
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] Unrelated allogenic bone marrow transplantation for dyskeratosis congenita: two case reports.2015

    • Author(s)
      宮本智史、大川哲平、満生紀子、磯田健志、青木由貴、高木正稔、梶原道子、今井耕輔、金兼弘和、長澤正之、森尾友宏
    • Organizer
      第77回日本血液学会学術集会
    • Place of Presentation
      ANAクラウンプラザホテル金沢 (金沢市)
    • Year and Date
      2015-10-17
    • Data Source
      KAKENHI-PROJECT-26461567
  • [Presentation] 毛細血管拡張性運動失調症の児に発症したサイトメガロウイルス脳炎(ポスター)2015

    • Author(s)
      小林千佳、松本和明、青木由貴、高木正稔、今井耕輔、梶原道子、森尾友宏
    • Organizer
      第118回日本小児科学学会学術集会
    • Place of Presentation
      大阪国際会議場(大阪府大阪市)
    • Year and Date
      2015-04-17
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] IKBA遺伝子異常による無汗性外胚葉形成不全症の一例2015

    • Author(s)
      西田豊,鎌田亜希子,石毛崇,八木久子,滝沢琢己,荒川浩一,河合朋樹,今井耕輔,河合利尚.
    • Organizer
      第6回関東甲越免疫不全症研究会
    • Place of Presentation
      東京医科歯科大学(東京都文京区)
    • Year and Date
      2015-09-27
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] X-linked thrombocytopenia に対して造血幹細胞移植を施行した症例についての国際調査2015

    • Author(s)
      今井耕輔
    • Organizer
      第1回造血細胞移植合同班会議
    • Place of Presentation
      名古屋第一赤十字病院 (名古屋市中村区)
    • Year and Date
      2015-07-04
    • Data Source
      KAKENHI-PROJECT-26461567
  • [Presentation] 経口ロタウイルスワクチン株の持続排泄を認めたX連鎖重症複合免疫不全症の一例(ポスター)2015

    • Author(s)
      友田昂宏、宮本智史、久保田真理、小野真太郎、足洗美穂、満生紀子、高木正稔、今井耕輔、梶原道子、金兼弘和、森尾友宏
    • Organizer
      47回 小児感染症学会
    • Place of Presentation
      ザ・セレクトン福島(福島県福島市)
    • Year and Date
      2015-10-31
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] 毛細血管拡張性運動失調症の児に発症したサイトメガロウイルス脳炎2015

    • Author(s)
      小林千佳、松本和明、青木由貴、高木正稔、今井耕輔、梶原道子、森尾友宏
    • Organizer
      第118回日本小児科学学会学術集会
    • Place of Presentation
      大阪国際会議場 (大阪市北区)
    • Year and Date
      2015-04-19
    • Data Source
      KAKENHI-PROJECT-26461567
  • [Presentation] 再生不良性貧血移植後の汎血球減少において認めたCD177(HNA-2)に対する抗好中球抗体2015

    • Author(s)
      岡本浩之、和田泰三、村岡正裕、榊原康久、東馬智子、宮本智史、富澤大輔、今井耕輔、森尾友宏、谷内江昭宏
    • Organizer
      第118回日本小児科学学会学術集会
    • Place of Presentation
      大阪国際会議場 (大阪市北区)
    • Year and Date
      2015-04-19
    • Data Source
      KAKENHI-PROJECT-26461567
  • [Presentation] 次世代シークエンサーを用いた原発性免疫不全症の迅速遺伝子診断法の確立2015

    • Author(s)
      加藤環,釜江智佳子,高島健浩,今井耕輔,小原収,野々山恵章
    • Organizer
      第6回関東甲越免疫不全症研究会
    • Place of Presentation
      東京医科歯科大学(東京都文京区)
    • Year and Date
      2015-09-27
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] CD40LG 異常によるX連鎖高IgM症候群に対する造血細胞移植療法についての後方視的検討2015

    • Author(s)
      今井耕輔
    • Organizer
      第1回造血細胞移植合同班会議
    • Place of Presentation
      名古屋第一赤十字病院 (名古屋市中村区)
    • Year and Date
      2015-07-04
    • Data Source
      KAKENHI-PROJECT-26461567
  • [Presentation] 免疫不全症マススクリーニングの可能性(口頭)2015

    • Author(s)
      今井耕輔
    • Organizer
      第42日本マススクリーニング学会 学術集会
    • Place of Presentation
      大手町サンケイフラザ(東京都千代田区)
    • Year and Date
      2015-08-21
    • Invited
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] XIAP欠損症に伴う炎症性腸疾患2015

    • Author(s)
      岡野翼、金兼弘和、小野真太郎、足洗美穂、小林千佳、星野顕宏、満生紀子、青木由貴、高木正稔、今井耕輔、森尾友宏
    • Organizer
      第25会日本小児リウマチ学会総会・学術集会
    • Place of Presentation
      金沢歌劇座(石川県金沢市)
    • Year and Date
      2015-10-09
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] 肝脾腫・高IgG血症を呈した9ヶ月男児2015

    • Author(s)
      岡野翼、渡辺恵理、西川拓郎、友田昴宏、久保田真理、宮本智史、高島健浩、満生紀子、高木正稔、今井耕輔、金兼弘和、河野嘉文、森尾友宏
    • Organizer
      第6回関東甲越免疫不全症研究会
    • Place of Presentation
      ステーションコンファレンス東京 (東京都千代田区)
    • Year and Date
      2015-09-27
    • Data Source
      KAKENHI-PROJECT-26461567
  • [Presentation] 免疫不全症における抗体産生異常の機序(口頭)2015

    • Author(s)
      今井耕輔
    • Organizer
      第43回日本臨床免疫学会
    • Place of Presentation
      神戸国際会議場(兵庫県神戸市)
    • Year and Date
      2015-10-22
    • Invited
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] 自己免疫性リンパ増殖症様疾患に対する全エクソーム解析の経験Whole-exome analysis of autoimmune lymphoproliferative syndrome-like diseases2015

    • Author(s)
      高木正稔、今井耕輔、朴今花、山下基、星野顕宏、岡野翼、金兼弘和、松村秀樹、奥野友介、吉田健一、上野浩生、白石友一、千葉健一、田中洋子、宮野悟、小川誠司、林泰秀、小島勢二、森尾友宏
    • Organizer
      第57回日本小児血液・がん学会学術集会
    • Place of Presentation
      甲府富士屋ホテル(山梨県甲府市)
    • Year and Date
      2015-11-27
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] Rituximabが奏功したX連鎖リンパ増殖症候群1型の一例Successful treatment by rituximab in a patient with X-linked lymphoproliferative syndrome type 1.2015

    • Author(s)
      廣木遥、岡野翼、山下基、足洗美穂、宮本智史、小林千佳、青木由貴、高木正稔、今井耕輔、金兼弘和、森尾友宏
    • Organizer
      第57回日本小児血液・がん学会学術集会
    • Place of Presentation
      甲府富士屋ホテル(山梨県甲府市)
    • Year and Date
      2015-11-27
    • Data Source
      KAKENHI-PROJECT-15K09640
  • [Presentation] ヒト免疫異常症における免疫担当細胞亜群解析の標準化2014

    • Author(s)
      今井耕輔
    • Organizer
      第58回日本リウマチ学会総会学術集会 シンポジウム
    • Place of Presentation
      グランドプリンスホテル新高輪(東京都港区)
    • Year and Date
      2014-04-26
    • Data Source
      KAKENHI-PROJECT-26461567
  • [Presentation] 抗体産生不全症の診断と治療の最新情報2014

    • Author(s)
      今井耕輔
    • Organizer
      第5回東海信州免疫不全症研究会
    • Place of Presentation
      名古屋
    • Year and Date
      2014-07-05
    • Data Source
      KAKENHI-PROJECT-26461567
  • [Presentation] 原発性免疫不全症に対する造血幹細胞移植2014

    • Author(s)
      今井耕輔
    • Organizer
      第10回PBC研究会
    • Place of Presentation
      東京
    • Year and Date
      2014-10-07
    • Data Source
      KAKENHI-PROJECT-26461567
  • [Presentation] 本邦におけるGATA2異常症の臨床症状、免疫学的異常に関する検討2013

    • Author(s)
      本間 健一, 今井 耕輔, 加藤 環, 釜江 智佳子, 野々山 恵章
    • Organizer
      第116回日本小児科学会学術集会
    • Place of Presentation
      広島(広島国際会議場)
    • Data Source
      KAKENHI-PROJECT-23591561
  • [Presentation] 本邦におけるICF(Immunodeficiency with Centromeric instability and Facial anomalies)症候群5例の検討2013

    • Author(s)
      加藤環,釜江智佳子,満生紀子,小原明,林正俊,野口恵美子,久保田健夫,本間健一,小原収,今井耕輔,野々山恵章
    • Organizer
      第41回本臨床免疫学会総会
    • Place of Presentation
      下関(海峡メッセ下関)
    • Data Source
      KAKENHI-PROJECT-23591561
  • [Presentation] 新規高IgM症候群と病因探索について2013

    • Author(s)
      今井耕輔
    • Organizer
      第116回日本小児科学会学術集会.分野別シンポジウム13-3
    • Place of Presentation
      広島(広島国際会議場)
    • Data Source
      KAKENHI-PROJECT-23591561
  • [Presentation] 先天性免疫不全症における遺伝子診断法2013

    • Author(s)
      今井耕輔
    • Organizer
      第116回日本小児科学会学術集会.総合シンポジウム5
    • Place of Presentation
      広島(広島国際会議場)
    • Data Source
      KAKENHI-PROJECT-23591561
  • [Presentation] 本邦におけるICF(Immunodeficiency with Centromeric instability and Facial anomalies)症候群5例の検討2013

    • Author(s)
      加藤 環, 釜江 智佳子, 満生 紀子, 小原 明, 林 正俊, 野口 恵美子, 久保田 健夫, 本間 健一, 小原 収, 今井 耕輔, 野々山 恵章
    • Organizer
      第41回日本臨床免疫学会
    • Place of Presentation
      下関(海峡メッセ下関)
    • Data Source
      KAKENHI-PROJECT-23591561
  • [Presentation] IgA単独欠損症として紹介され、TREC/KRECの結果からRAG1異常と同定しえた1例2013

    • Author(s)
      加藤環,釡江智佳子,本間健一,池川健,横須賀とも子,和田泰三,谷内江昭宏,西田直徳,金兼弘和,満生紀子,小原收,今井耕輔,森尾友宏,野々山恵章
    • Organizer
      第116回日本小児科学会学術集会
    • Place of Presentation
      広島(広島国際会議場)
    • Data Source
      KAKENHI-PROJECT-23591561
  • [Presentation] 国内SCID140症例の造血幹細胞移植成績について2013

    • Author(s)
      今井耕輔
    • Organizer
      第6回日本免疫不全症研究会
    • Place of Presentation
      品川
    • Year and Date
      2013-01-26
    • Data Source
      KAKENHI-PROJECT-23591561
  • [Presentation] 分類不能型免疫不全症(CVID)のTREC/KRECによる病型分類2013

    • Author(s)
      釜江 智佳子, 中川 紀子, 本間 健一, 佐藤 弘樹, 今井 耕輔, 野々山 恵章
    • Organizer
      第116回日本小児科学会学術集会
    • Place of Presentation
      広島(広島国際会議場)
    • Data Source
      KAKENHI-PROJECT-23591561
  • [Presentation] 分類不能型免疫不全症(CVID)のTREC/KRECによる病型分類2013

    • Author(s)
      釜江智佳子,中川紀子,本間健一,佐藤弘樹,今井耕輔,野々山恵章
    • Organizer
      第116回日本小児科学会学術集会
    • Place of Presentation
      広島(広島国際会議場)
    • Data Source
      KAKENHI-PROJECT-23591561
  • [Presentation] 本邦におけるGATA2異常症の臨床症状、免疫学的異常に関する検討2013

    • Author(s)
      本間健一,今井耕輔,加藤環,釜江智佳子,野々山恵章
    • Organizer
      第116回日本小児科学会学術集会
    • Place of Presentation
      広島(広島国際会議場)
    • Data Source
      KAKENHI-PROJECT-23591561
  • [Presentation] IgA欠損症の原因としてのRAG遺伝子異常についての検討2013

    • Author(s)
      加藤 環, 釜江 智佳子, 本間 健一, 池川 健, 横須賀 とも子, 和田 泰三, 谷内江 昭宏, 今井 耕輔, 森尾 友宏, 野々山 恵章
    • Organizer
      第116回日本小児科学会学術集会
    • Place of Presentation
      広島(広島国際会議場)
    • Data Source
      KAKENHI-PROJECT-23591561
  • [Presentation] 先天性免疫不全症における遺伝子診断法2013

    • Author(s)
      今井耕輔
    • Organizer
      第116回日本小児科学会学術集会.総合シンポジウム5
    • Place of Presentation
      広島(広島国際会議場)
    • Data Source
      KAKENHI-PROJECT-23591561
  • [Presentation] 新規高IgM症候群と病因探索について2013

    • Author(s)
      今井耕輔
    • Organizer
      第116回日本小児科学会学術集会.分野別シンポジウム
    • Place of Presentation
      広島(広島国際会議場)(13-3)
    • Data Source
      KAKENHI-PROJECT-23591561
  • [Presentation] Clinical features and immunological abnormalities of GATA2 deficiency in JAPAN2012

    • Author(s)
      Honma K, Imai K, Kamae C, Ishida H, Ito Y,Kojima S, Yokosuka T, Kanegane H, Morio T, Sasahara Y, Fujiwara T, Harigae H, Hashii Y,Ohara O, Nonoyama S.
    • Organizer
      15th Biennial Meeting of the European Society of Immunodeficiencies (ESID2012)
    • Place of Presentation
      Florence, Italy
    • Year and Date
      2012-10-05
    • Data Source
      KAKENHI-PROJECT-23591561
  • [Presentation] ウイルスに対する感染防御機構2012

    • Author(s)
      今井耕輔
    • Organizer
      第44回日本小児感染症学会総会・学術集会(教育セミナー)
    • Place of Presentation
      北九州
    • Year and Date
      2012-11-23
    • Data Source
      KAKENHI-PROJECT-23591561
  • [Presentation] Genetic analysis for 207 cases with primary immunodeficiency (PID) consulted to a single center through PID network in Japan (PIDJ) in 5 years (2007-2011)2012

    • Author(s)
      Mitsuiki N, Oshima K, Imai K, Ohara O, Morio T,Mizutani S.
    • Organizer
      15th Biennial Meeting of the European Society of Immunodeficiencies (ESID2012)
    • Place of Presentation
      Florence,Italy
    • Year and Date
      2012-10-05
    • Data Source
      KAKENHI-PROJECT-23591561
  • [Presentation] Classification of common variable immunodeficiency by quantification of T cell receptor recombination excision circles (TREC) and Ig kappa-deleting recombination excision circles (KREC).2012

    • Author(s)
      Kamae C, Nakagawa N, Sato H, Honma K, Mitsuiki N, Ohara O, Kanegane H, Pasic S, Pan-Hammarström Q, MC van Zelm, Morio T, Imai K, Nonoyama S.
    • Organizer
      15th Biennial Meeting of the European Society of Immunodeficiencies (ESID2012)
    • Place of Presentation
      Florence, Italy.
    • Data Source
      KAKENHI-PROJECT-22390213
  • [Presentation] Classification of common variable immunodeficiency by quantification of T cell receptor recombination excision circles (TREC) and Ig kappa-deleting recombination excision circles (KREC)2012

    • Author(s)
      Kamae C, Nakagawa N, Sato H, Honma K, Mitsuiki N, Ohara O, Kanegane H, Pasic S, Pan-Hammarstrom Q, MC van Zelm, Morio T, Imai K, Nonoyama S
    • Organizer
      15th Biennial Meeting of the European Society of Immunodeficiencies (ESID2012)
    • Place of Presentation
      Florence, Italy
    • Data Source
      KAKENHI-PROJECT-22390213
  • [Presentation] 次世代シークエンサーにより、原因遺伝子の同定に至ったCVIDの1例2012

    • Author(s)
      釜江智佳子、満生紀子、小原明、野口恵美子、久保田健夫、本間健一、小原收、今井耕輔、野々山恵章
    • Organizer
      第3回関東甲越免疫不全症研究会
    • Place of Presentation
      東京
    • Year and Date
      2012-09-22
    • Data Source
      KAKENHI-PROJECT-22390213
  • [Presentation] Genetic analysis for 207 cases with primary immunodeficiency (PID) consulted to a single center through PID network in Japan (PIDJ) in 5 years (2007-2011)2012

    • Author(s)
      Mitsuiki N, Oshima K, Imai K, Ohara O, Morio T, Mizutani S
    • Organizer
      15th Biennial Meeting of the European Society of Immunodeficiencies (ESID2012)
    • Place of Presentation
      Florence, Italy
    • Data Source
      KAKENHI-PROJECT-22390213
  • [Presentation] 先天性免疫不全症における遺伝学的検査の取り扱いと諸問題について2012

    • Author(s)
      今井耕輔
    • Organizer
      第54回日本小児血液・がん学会学術集会(イブニング・セッション3)
    • Place of Presentation
      横浜
    • Year and Date
      2012-12-01
    • Data Source
      KAKENHI-PROJECT-23591561
  • [Presentation] 免疫不全症の遺伝子診断・治療のup-to-date2012

    • Author(s)
      今井耕輔
    • Organizer
      第74回日本血液学会学術集会
    • Place of Presentation
      京都(教育講演)
    • Year and Date
      2012-10-21
    • Data Source
      KAKENHI-PROJECT-23591561
  • [Presentation] 抗ウイルス薬使用の実際と今後の考え方2012

    • Author(s)
      今井耕輔
    • Organizer
      第44回日本小児感染症学会総会・学術集会(シンポジウム1)
    • Place of Presentation
      北九州
    • Year and Date
      2012-11-25
    • Data Source
      KAKENHI-PROJECT-23591561
  • [Presentation] East Meets West. The Asia Pacific Association of Pediatric Allergy, Respirology & Immunology 2012 (APAPARI 2012).2012

    • Author(s)
      Imai K. Screening for Primary Immunodeficiency Diseases using TREC and KREC. Symposium (1) Primary immunodeficiency.
    • Organizer
      The Asia Pacific Association of Pediatric Allergy, Respirology & Immunology 2012 (APAPARI 2012)
    • Place of Presentation
      Taipei, Taiwan
    • Invited
    • Data Source
      KAKENHI-PROJECT-23591561
  • [Presentation] Screening for Primary Immunodeficiency Diseases using TREC and KREC. Symposium (1)Primary immunodeficiency. East Meets West2012

    • Author(s)
      Imai K.
    • Organizer
      The Asia Pacific Association of Pediatric Allergy, Respirology & Immunology 2012 (APAPARI 2012)
    • Place of Presentation
      Taipei, Taiwan
    • Year and Date
      2012-10-20
    • Invited
    • Data Source
      KAKENHI-PROJECT-23591561
  • [Presentation] Clinical features and immunological abnormalities of GATA2 deficiency in JAPAN2012

    • Author(s)
      Honma K, Imai K, Kamae C, Ishida H, Ito Y, Kojima S, Yokosuka T, Kanegane H, Morio T, Sasahara Y, Fujiwara T, Harigae H, Hashii Y, Ohara O, Nonoyama S
    • Organizer
      15th Biennial Meeting of the European Society of Immunodeficiencies (ESID2012)
    • Place of Presentation
      Florence, Italy
    • Data Source
      KAKENHI-PROJECT-22390213
  • [Presentation] Clinical features and immunological abnormalities of GATA2 deficiency in JAPAN.2012

    • Author(s)
      Honma K, Imai K, Kamae C, Ishida H, Ito Y, Kojima S, Yokosuka T, Kanegane H, Morio T, Sasahara Y, Fujiwara T, Harigae H, Hashii Y, Ohara O, Nonoyama S.
    • Organizer
      15th Biennial Meeting of the European Society of Immunodeficiencies (ESID2012)
    • Place of Presentation
      Florence, Italy.
    • Data Source
      KAKENHI-PROJECT-22390213
  • [Presentation] Classification of common variable immunodeficiency by quantification of T cell receptor recombination excision circles (TREC) and Ig kappa-deleting recombination excision circles (KREC)2012

    • Author(s)
      Kamae C, Nakagawa N, Sato H, Honma K, Mitsuiki N, Ohara O, Kanegane H, Pasic S, Pan-Hammarström Q, MC van Zelm, Morio T,Imai K, Nonoyama S.
    • Organizer
      5th Biennial Meeting of the European Society of Immunodeficiencies (ESID2012)
    • Place of Presentation
      Florence,Italy
    • Year and Date
      2012-10-05
    • Data Source
      KAKENHI-PROJECT-23591561
  • [Presentation] Genetic analysis for 207 cases with primary immunodeficiency (PID) consulted to a single center through PID network in Japan (PIDJ) in 5 years (2007-2011).2012

    • Author(s)
      Mitsuiki N, Oshima K, Imai K, Ohara O, Morio T, Mizutani S.
    • Organizer
      15th Biennial Meeting of the European Society of Immunodeficiencies (ESID2012)
    • Place of Presentation
      Florence, Italy.
    • Data Source
      KAKENHI-PROJECT-22390213
  • [Presentation] Clinical features and immunological abnormalities of GATA2 deficiency in JAPAN

    • Author(s)
      Honma K, Imai K, Kamae C, Ishida H, Ito Y, Kojima S, Yokosuka T, Kanegane H, Morio T, Sasahara Y, Fujiwara T, Harigae H, Hashii Y, Ohara O, Nonoyama S
    • Organizer
      15th Biennial Meeting of the European Society of Immunodeficiencies (ESID2012)
    • Place of Presentation
      Florence,Italy
    • Data Source
      KAKENHI-PROJECT-23591561
  • [Presentation] Classification of common variable immunodeficiency by quantification of T cell receptor recombination excision circles (TREC) and Ig kappa-deleting recombination excision circles (KREC)

    • Author(s)
      Kamae C, Nakagawa N, Sato H, Honma K, Mitsuiki N, Ohara O, Kanegane H, Pasic S, Pan-Hammarström Q, MC van Zelm, Morio T, Imai K, Nonoyama S.
    • Organizer
      5th Biennial Meeting of the European Society of Immunodeficiencies (ESID2012). Florence
    • Place of Presentation
      Florence,Italy
    • Data Source
      KAKENHI-PROJECT-23591561
  • [Presentation] Genetic analysis for 207 cases with primary immunodeficiency (PID) consulted to a single center through PID network in Japan (PIDJ) in 5 years (2007-2011).

    • Author(s)
      Mitsuiki N, Oshima K, Imai K, Ohara O, Morio T, Mizutani S.
    • Organizer
      15th Biennial Meeting of the European Society of Immunodeficiencies (ESID2012)
    • Place of Presentation
      Florence,Italy
    • Data Source
      KAKENHI-PROJECT-23591561
  • [Presentation] 免疫不全症の遺伝子診断・治療のup-to-date(教育講演)

    • Author(s)
      今井耕輔
    • Organizer
      第 74 回日本血液学会学術集会
    • Place of Presentation
      京都
    • Data Source
      KAKENHI-PROJECT-23591561
  • [Presentation] 先天性免疫不全症における遺伝学的検査の取り扱いと諸問題について

    • Author(s)
      今井耕輔
    • Organizer
      第54回日本小児血液・がん学会学術集会(イブニング・セッション 3)
    • Place of Presentation
      横浜
    • Data Source
      KAKENHI-PROJECT-23591561
  • []

  • []

  • []

  • 1.  NONOYAMA Shigeaki (40280961)
    # of Collaborated Projects: 5 results
    # of Collaborated Products: 44 results
  • 2.  OSHIMA Koichi (60525377)
    # of Collaborated Projects: 4 results
    # of Collaborated Products: 14 results
  • 3.  OHARA Osamu (20370926)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 21 results
  • 4.  HIJIKATA Atsushi (80415273)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 5.  Mizuno Tomoko (90765398)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 6.  長瀬 隆弘 (10211442)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 7.  渡辺 恵理 (10624819)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 8.  渡辺 信和 (10334278)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 9.  森谷 邦彦 (40646999)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 10.  磯田 健志 (80815225)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 11.  OKADA Satoshi
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 5 results
  • 12.  TSUMURA Miyuki
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 3 results
  • 13.  KAWANO Yoshifumi
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 14.  TAKAHASHI Yoshiyuki
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 15.  MTSUI Tetsuo
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 16.  SAITOH Megumu
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 17.  IZAWA Kazushi
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 18.  WATANABE Akira
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 19.  NANYA Yasuhito
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 20.  Chiba Shigeru
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 21.  足立 壮一
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 22.  高田 英俊
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 2 results
  • 23.  金兼 弘和
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 7 results
  • 24.  西川 拓朗
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 25.  西小森 隆太
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 2 results
  • 26.  森尾 友宏
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 4 results
  • 27.  小島 勢二
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 28.  星野 顕宏
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 29.  長澤 正之
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 3 results
  • 30.  小川 誠司
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 5 results
  • 31.  江藤 正俊
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 32.  中畑 龍俊
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 33.  内山 徹
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 34.  川畑 仁人
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 35.  伊藤 悦朗
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 2 results
  • 36.  江藤 浩之
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 3 results
  • 37.  遠藤 明史
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 38.  松本 浩
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results

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