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Okada Satoshi  岡田 賢

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OKADA Satoshi  岡田 賢

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Researcher Number 80457241
Other IDs
Affiliation (Current) 2025: 広島大学, 医系科学研究科(医), 教授
Affiliation (based on the past Project Information) *help 2019 – 2024: 広島大学, 医系科学研究科(医), 教授
2018: 広島大学, 医系科学研究科(医), 講師
2017 – 2018: 広島大学, 医歯薬保健学研究科(医), 講師
2015 – 2016: 広島大学, 医歯薬保健学研究院(医), 講師
2015: 広島大学, 大学院医歯薬保健学研究院, 講師 … More
2014: 広島大学, 大学病院, 病院助教
2013 – 2014: 広島大学, 大学病院, 助教
2012: 広島大学, 病院(医), 病院助教
2009: Hiroshima University, 病院, 病院助教
2008: Hiroshima University, 病院, 医科診療医 Less
Review Section/Research Field
Principal Investigator
Pediatrics / Basic Section 52050:Embryonic medicine and pediatrics-related / Medium-sized Section 49:Pathology, infection/immunology, and related fields
Except Principal Investigator
Basic Section 52050:Embryonic medicine and pediatrics-related / Pediatrics / Basic Section 58070:Lifelong developmental nursing-related
Keywords
Principal Investigator
原発性免疫不全症 / STAT1 / 慢性皮膚粘膜カンジダ症 / MSMD / CMC / RORγT / CMCD / 全エクソーム解析 / RORC / カンジダ … More / BCG / マウス / IL-17 / 疾患モデルマウス / 遺伝子異常 / 自己抗体 / 中和抗体 / RelA / インターフェロン過剰 / 易感染性 / I型インターフェロン / ウイルス / ロングリード / 次世代シーケンサー / 診断率向上 / ロングリードシーケンス / 診断困難例 / RNAシーケンス / 全ゲノム解析 / ロングリードNGS / 慢性皮膚粘膜カンジダ感染症 / 脱リン酸化酵素 / 多発性骨髄炎 / IL-17RC / 慢性皮膚粘膜カンジダ感染 / メンデル遺伝型マイコバクテリア易感染症 / トランスクリプトーム解析 / エクソーム解析 / オミックス解析 / NEMO / プロテオーム / トランスクリプトーム / 未診断 / targeted RNA sequence / 未診断症例 / プロテオーム解析 / ターゲットRNAシーケンス / マルチオミックス解析 / 末梢リンパ節 / マイコバクテリア / マイコバクテリア易感染症 / CMD / 機能獲得型変異 / 造血細胞移植 / IL17RA / STAT1機能獲得型変異 / 脱リン酸化障害 / 機能獲得性変異 / アラニンスキャニング / 治療 / ノックインマウス / 重症先天性好中球減少症 / ELA2 / 遺伝子 / 免疫学 … More
Except Principal Investigator
体力低下 / 機能低下 / 復学支援 / 小児がん / 半量不全 / 優性阻害 / 免疫異常 / RELA / 細胞療法 / 新生児慢性肺疾患 / 21トリソミー / 間葉系幹細胞 / 慢性肺疾患 / 新生児 / ユビキチン修飾異常 / 原発性免疫不全症 / ユビキチン修飾 / 複合免疫不全症 / 機能獲得型変異 / Stat1 / 疾患モデルマウス / STAT1機能獲得型変異 / 慢性皮膚粘膜カンジダ症 / Stat1ノックインマウス / TALEN / 遺伝子修復 / 人工ヌクレアーゼ / 遺伝子編集 / iPS細胞 / 先天性好中球減少症 / 分枝鎖アミノトランスフェラーゼ / 分枝鎖αケト酸脱水素酵素複合体 / BCKDK / 分枝鎖αケト酸脱水素酵素 / ロイシン / 常染色体優性遺伝 / 分枝鎖α-ケト酸脱水素酵素キナーゼ(BCKDK) / 分枝鎖α-ケト酸脱水素酵素複合体 / メープルシロップ尿症 / 小児代謝・栄養学 Less
  • Research Projects

    (16 results)
  • Research Products

    (343 results)
  • Co-Researchers

    (49 People)
  •  Elucidation of the molecular pathogenesis of autosomal dominant ReAl deficiency

    • Principal Investigator
      津村 弥来
    • Project Period (FY)
      2023 – 2025
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 52050:Embryonic medicine and pediatrics-related
    • Research Institution
      Hiroshima University
  •  The partnerships with schools by providing ongoing school visitation support by healthcare professionals for pediatric cancer patients with physical and functional declines.

    • Principal Investigator
      祖父江 育子
    • Project Period (FY)
      2023 – 2025
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 58070:Lifelong developmental nursing-related
    • Research Institution
      Hiroshima University
  •  Study of trisomy21 umbilical cord-derived mesenchymal stem cell therapy in bronchopulmonary dysplasia

    • Principal Investigator
      早川 誠一
    • Project Period (FY)
      2022 – 2024
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 52050:Embryonic medicine and pediatrics-related
    • Research Institution
      Hiroshima University
  •  Long-read sequencing analysis for difficult to diagnose cases of primary immunodeficiencyPrincipal Investigator

    • Principal Investigator
      岡田 賢
    • Project Period (FY)
      2022 – 2024
    • Research Category
      Fund for the Promotion of Joint International Research (Fostering Joint International Research (B))
    • Review Section
      Medium-sized Section 49:Pathology, infection/immunology, and related fields
    • Research Institution
      Hiroshima University
  •  Elucidating the etiopathogenesis of primary immunodeficiency with a focus on susceptibility to virusesPrincipal Investigator

    • Principal Investigator
      岡田 賢
    • Project Period (FY)
      2022 – 2024
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Review Section
      Basic Section 52050:Embryonic medicine and pediatrics-related
    • Research Institution
      Hiroshima University
  •  Characterization of the mechanism of combined immunodeficiency due to ubiquitin modification abnormalities

    • Principal Investigator
      Tsumura Miyuki
    • Project Period (FY)
      2020 – 2023
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 52050:Embryonic medicine and pediatrics-related
    • Research Institution
      Hiroshima University
  •  Characterization of etiology of primary immunodeficiency by focusing on host susceptibility to specific pathogensPrincipal Investigator

    • Principal Investigator
      OKADA SATOSHI
    • Project Period (FY)
      2019 – 2021
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Review Section
      Basic Section 52050:Embryonic medicine and pediatrics-related
    • Research Institution
      Hiroshima University
  •  Multi-OMICS approaches to investigate molecular pathogenesis of primary immune deficiencyPrincipal Investigator

    • Principal Investigator
      OKADA SATOSHI
    • Project Period (FY)
      2018 – 2020
    • Research Category
      Fund for the Promotion of Joint International Research (Fostering Joint International Research (B))
    • Review Section
      Medium-sized Section 49:Pathology, infection/immunology, and related fields
    • Research Institution
      Hiroshima University
  •  Molecular pathological analysis of infectious disease development using gain-of-function STAT1 knock-in mice.

    • Principal Investigator
      Tsumura Miyuki
    • Project Period (FY)
      2017 – 2019
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Hiroshima University
  •  Investigation of molecular mechanism and therapeutic target of Chronic Mucocutaneous CandidiasisPrincipal Investigator

    • Principal Investigator
      OKADA SATOSHI
    • Project Period (FY)
      2016 – 2018
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      Hiroshima University
  •  Development of the treatment by investigating the mechanism of disseminated BCG in patients with RORgT deficiencyPrincipal Investigator

    • Principal Investigator
      Okada Satoshi
    • Project Period (FY)
      2016 – 2017
    • Research Category
      Grant-in-Aid for Challenging Exploratory Research
    • Research Field
      Pediatrics
    • Research Institution
      Hiroshima University
  •  Gene editing of iPS cells derived from patients with congenital phagocytic disorders

    • Principal Investigator
      Kobayashi Masao
    • Project Period (FY)
      2013 – 2015
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      Hiroshima University
  •  Establishment of mouse model of chronic mucocutaneous candidiasis disease and use them to find therapeutic targetPrincipal Investigator

    • Principal Investigator
      OKADA Satoshi
    • Project Period (FY)
      2013 – 2014
    • Research Category
      Grant-in-Aid for Challenging Exploratory Research
    • Research Field
      Pediatrics
    • Research Institution
      Hiroshima University
  •  Identification of new responsible gene for chronic mucocutaneous candidiasis disease. Analysis of molecular pathogenesis of STAT1 dysregulation.Principal Investigator

    • Principal Investigator
      Okada Satoshi
    • Project Period (FY)
      2013 – 2015
    • Research Category
      Grant-in-Aid for Young Scientists (A)
    • Research Field
      Pediatrics
    • Research Institution
      Hiroshima University
  •  Familial hyperleucinemia with normal branched-chain α-ketoacid dehydrogenase activity suggesting novel mechanism of thiamin-responsive maple syrup urine disease

    • Principal Investigator
      TAJIMA Go
    • Project Period (FY)
      2010 – 2012
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Hiroshima University
  •  Analysis of Primary Immunodeficiency Syndromes using model mice.Principal Investigator

    • Principal Investigator
      OKADA Satoshi
    • Project Period (FY)
      2008 – 2009
    • Research Category
      Grant-in-Aid for Young Scientists (B)
    • Research Field
      Pediatrics
    • Research Institution
      Hiroshima University

All 2024 2023 2022 2021 2020 2019 2018 2017 2016 2015 2014 2013 2012 2011 2010 2009 2008 Other

All Journal Article Presentation Book

  • [Book] 好中球減少症へのアプローチ2022

    • Author(s)
      溝口 洋子, 岡田 賢
    • Total Pages
      7
    • Publisher
      科学評論社
    • Data Source
      KAKENHI-PROJECT-22KK0113
  • [Book] 原発性免疫不全症2022

    • Author(s)
      岡田 賢
    • Total Pages
      5
    • Publisher
      総合医学社
    • Data Source
      KAKENHI-PROJECT-22KK0113
  • [Book] 臨床免疫・アレルギー科2017

    • Author(s)
      岡田 賢, 津村弥来, 小林正夫
    • Total Pages
      7
    • Publisher
      科学評論社
    • Data Source
      KAKENHI-PROJECT-16K15528
  • [Book] 臨床免疫・アレルギー科2017

    • Author(s)
      岡田 賢, 津村弥来, 小林正夫
    • Total Pages
      7
    • Publisher
      科学評論社
    • Data Source
      KAKENHI-PROJECT-16H05355
  • [Book] 原発性免疫不全症症候群 診療の手引き2017

    • Author(s)
      岡田 賢
    • Total Pages
      10
    • Publisher
      診断と治療社
    • Data Source
      KAKENHI-PROJECT-16H05355
  • [Book] 原発性免疫不全症症候群 診療の手引き2017

    • Author(s)
      岡田 賢
    • Total Pages
      10
    • Publisher
      診断と治療社
    • Data Source
      KAKENHI-PROJECT-16K15528
  • [Book] 日本臨床 免疫症候群III2016

    • Author(s)
      岡田 賢
    • Total Pages
      17
    • Publisher
      日本臨牀社
    • Data Source
      KAKENHI-PROJECT-16H05355
  • [Book] 日本臨床 免疫症候群III2016

    • Author(s)
      岡田 賢
    • Total Pages
      17
    • Publisher
      日本臨牀社
    • Data Source
      KAKENHI-PROJECT-16K15528
  • [Book] STAT1 gain-of-function mutation, 免疫不全症候群(第2版)III2016

    • Author(s)
      岡田 賢
    • Publisher
      日本臨症社
    • Data Source
      KAKENHI-PROJECT-25713039
  • [Book] IL-17RA欠損症, 免疫不全症候群(第2版)III2016

    • Author(s)
      浅野孝基, 岡田 賢
    • Publisher
      日本臨症社
    • Data Source
      KAKENHI-PROJECT-25713039
  • [Book] ACT1異常症, 免疫不全症候群(第2版)III2016

    • Author(s)
      坂田園子, 岡田 賢
    • Publisher
      日本臨症社
    • Data Source
      KAKENHI-PROJECT-25713039
  • [Book] CARD9欠損症, 免疫不全症候群(第2版)III2016

    • Author(s)
      早川誠一, 岡田 賢
    • Publisher
      日本臨症社
    • Data Source
      KAKENHI-PROJECT-25713039
  • [Book] IL-17F異常症, 免疫不全症候群(第2版)III2016

    • Author(s)
      香川礼子, 岡田 賢
    • Publisher
      日本臨症社
    • Data Source
      KAKENHI-PROJECT-25713039
  • [Book] MSMD, 小児疾患診療のための病態生理2 改訂第5版2015

    • Author(s)
      岡田 賢, 小林正夫
    • Publisher
      東京医学社
    • Data Source
      KAKENHI-PROJECT-25713039
  • [Book] 慢性皮膚粘膜カンジダ症, 小児疾患診療のための病態生理2 改訂第5版2015

    • Author(s)
      岡田 賢, 小林正夫
    • Publisher
      東京医学社
    • Data Source
      KAKENHI-PROJECT-25713039
  • [Book] 好中球減少症および白血球接着異常症, 小児疾患診療のための病態生理2 改訂第5版2015

    • Author(s)
      溝口洋子, 小林正夫, 岡田 賢
    • Publisher
      東京医学社
    • Data Source
      KAKENHI-PROJECT-25713039
  • [Book] Annual Review 血液20102010

    • Author(s)
      岡田賢, 他
    • Publisher
      中外医学社
    • Data Source
      KAKENHI-PROJECT-20790731
  • [Book] 骨髄不全症候群とリボソームの異常, Annual Review血液20102010

    • Author(s)
      岡田賢, 他
    • Publisher
      中外医学社
    • Data Source
      KAKENHI-PROJECT-20790731
  • [Journal Article] Clinical, immunological, and genetic description of a Mexican cohort of patients with DOCK8 deficiency2024

    • Author(s)
      Liquidano-Perez E, Maza-Ramos G, Perez Arias BA, Lugo Reyes SO, Barragan Arevalo T, Solorzano-Morales SA, Venegas Montoya E, Staines-Boone AT, Guzman Cotaya R, Okada S, et al.
    • Journal Title

      Pediatric Allergy and Immunology

      Volume: 35 Issue: 2

    • DOI

      10.1111/pai.14073

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-22KK0113, KAKENHI-PROJECT-23K24302
  • [Journal Article] Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children2024

    • Author(s)
      Bastard Paul、Gervais Adrian、Taniguchi Maki、Saare Liisa、Sarekannu Karita、Le Voyer Tom、Philippot Quentin、Rosain Jeremie、Bizien Lucy、Asano Takaki、、、、、Okada Satoshi、Puel Anne、Cobat Aurelie、Casanova Jean-Laurent、COVID Clinicians、GEN-COVID Study Group、COVID Human Genetic Effort
    • Journal Title

      Journal of Experimental Medicine

      Volume: 221 Issue: 2

    • DOI

      10.1084/jem.20231353

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-23K14979, KAKENHI-PROJECT-22K20772, KAKENHI-PROJECT-22KK0113, KAKENHI-PROJECT-23K07268, KAKENHI-PROJECT-23K09603, KAKENHI-PROJECT-20K08158, KAKENHI-PROJECT-23K24302
  • [Journal Article] Human IL-23 is essential for IFN-γ-dependent immunity to mycobacteria2023

    • Author(s)
      Philippot Q, Ogishi M, Bohlen J, Puchan J, Arias AA, Nguyen T, Martin-Fernandez M, Conil C, Rinchai D, Momenilandi M, Mahdaviani SA, Keramatipour M, Rosain J, Yang R, Khan T, Neehus AL, Materna M, Han JE, Peel J, Mele F, Weisshaar M, Jovic S, Bastard P, …, Okada S, et al.
    • Journal Title

      Science Immunology

      Volume: 8 Issue: 80

    • DOI

      10.1126/sciimmunol.abq5204

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-22KK0113, KAKENHI-PROJECT-23K24302
  • [Journal Article] Human RELA dominant-negative mutations underlie type I interferonopathy with autoinflammation and autoimmunity2023

    • Author(s)
      Moriya Kunihiko、Nakano Tomohiro、Honda Yoshitaka、Tsumura Miyuki、Ogishi Masato、、、Izawa Kazushi、Asano Takaki、Kakuta Fumihiko、Abukawa Daiki、、、Boisson Bertrand、Puel Anne、Casanova Jean-Laurent、Nishikomori Ryuta、Ohga Shouichi、Okada Satoshi、Sasahara Yoji、Kure Shigeo
    • Journal Title

      Journal of Experimental Medicine

      Volume: 220 Issue: 9

    • DOI

      10.1084/jem.20212276

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-23K14979, KAKENHI-PROJECT-22K20772, KAKENHI-PROJECT-22KK0113, KAKENHI-PROJECT-23K07268, KAKENHI-PROJECT-20K08158, KAKENHI-PROJECT-20K16924, KAKENHI-PROJECT-23K24302
  • [Journal Article] Lethal Interstitial Lung Disease Associated with a Gain-of-Function Mutation in IFIH12023

    • Author(s)
      Kida Yoshiko、Doi Takehiko、Imanaka Yusuke、Amatya Vishwa Jeet、Shime Nobuaki、Okada Satoshi
    • Journal Title

      Journal of Clinical Immunology

      Volume: 43 Issue: 6 Pages: 1143-1146

    • DOI

      10.1007/s10875-023-01494-8

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-20K17897, KAKENHI-PROJECT-22KK0113, KAKENHI-PROJECT-23K24302
  • [Journal Article] Patient-reported outcomes in patients with primary immunodeficiency diseases in Japan: baseline results from a prospective observational study2023

    • Author(s)
      Kanegane Hirokazu、Ishimura Masataka、Kawai Toshinao、Okada Satoshi、Okamatsu Nobuaki、Go Madoka、Noto Shinichi
    • Journal Title

      Frontiers in Immunology

      Volume: 14 Pages: 1244250-1244250

    • DOI

      10.3389/fimmu.2023.1244250

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-22KK0113, KAKENHI-PROJECT-23K24302
  • [Journal Article] Case Report: Molecular autopsy underlie COVID-19-associated sudden, unexplained child mortality2023

    • Author(s)
      Unuma Kana、Tomomasa Dan、Noma Kosuke、Yamamoto Kouhei、Matsuyama Taka-aki、Makino Yohsuke、Hijikata Atsushi、Wen Shuheng、Ogata Tsutomu、Okamoto Nobuhiko、Okada Satoshi、Ohashi Kenichi、Uemura Koichi、Kanegane Hirokazu
    • Journal Title

      Frontiers in Immunology

      Volume: 14 Pages: 1121059-1121059

    • DOI

      10.3389/fimmu.2023.1121059

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-22KK0113, KAKENHI-PROJECT-23K24302
  • [Journal Article] Isolated Chronic Mucocutaneous Candidiasis due to a Novel Duplication Variant of IL17RC2023

    • Author(s)
      Noma Kosuke、Tsumura Miyuki、Nguyen Tina、Asano Takaki、Sakura Fumiaki、Tamaura Moe、Imanaka Yusuke、Mizoguchi Yoko、Karakawa Shuhei、Hayakawa Seiichi、Shoji Takayo、Hosokawa Junichi、Izawa Kazushi、Ling Yun、Casanova Jean-Laurent、Puel Anne、Tangye Stuart G.、Ma Cindy S.、Ohara Osamu、Okada Satoshi
    • Journal Title

      Journal of Clinical Immunology

      Volume: 44 Issue: 1 Pages: 18-18

    • DOI

      10.1007/s10875-023-01601-9

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-22K15921, KAKENHI-PROJECT-23K14979, KAKENHI-PROJECT-22K20772, KAKENHI-PROJECT-22KK0113, KAKENHI-PROJECT-23K07268, KAKENHI-PROJECT-23K07291, KAKENHI-PROJECT-20K08158, KAKENHI-PROJECT-21K15905, KAKENHI-PROJECT-23K24302
  • [Journal Article] Human PIK3R1 mutations disrupt lymphocyte differentiation to cause activated PI3Kδ syndrome 22023

    • Author(s)
      Nguyen Tina、Lau Anthony、Bier Julia、Cooke Kristen C.、Lenthall Helen、Ruiz-Diaz Stephanie、Avery Danielle T.、Brigden Henry、Zahra David、Sewell William A、Droney Luke、Okada Satoshi、Asano Takaki、et al.
    • Journal Title

      Journal of Experimental Medicine

      Volume: 220 Issue: 6

    • DOI

      10.1084/jem.20221020

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-22K20772, KAKENHI-PROJECT-22KK0113, KAKENHI-PROJECT-23K24302
  • [Journal Article] Human STAT1 gain of function with chronic mucocutaneous candidiasis: A comprehensive review for strengthening the connection between bedside observations and laboratory research2023

    • Author(s)
      Asano Takaki、Noma Kosuke、Mizoguchi Yoko、Karakawa Shuhei、Okada Satoshi
    • Journal Title

      Immunological Reviews

      Volume: 322 Issue: 1 Pages: 81-97

    • DOI

      10.1111/imr.13300

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23K14979, KAKENHI-PROJECT-22K20772, KAKENHI-PROJECT-22KK0113, KAKENHI-PROJECT-23K07291, KAKENHI-PROJECT-21K15905, KAKENHI-PROJECT-23K24302
  • [Journal Article] A complementary approach for genetic diagnosis of inborn errors of immunity using proteogenomic analysis2023

    • Author(s)
      Sakura F, Noma K, Asano T, Tanita K, Toyofuku E, Kato K, Tsumura M, Nihira H, Izawa K, Mitsui-Sekinaka K, Konno R, Kawashima Y, Mizoguchi Y, Karakawa S, Hayakawa S, Kawaguchi H, Imai K, Nonoyama S, Yasumi T, Ohnishi H, Kanegane H, Ohara O, Okada S
    • Journal Title

      PNAS Nexus

      Volume: 2 Issue: 4 Pages: 1-12

    • DOI

      10.1093/pnasnexus/pgad104

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-20K08158, KAKENHI-PROJECT-21K07770, KAKENHI-PROJECT-22K07887, KAKENHI-PROJECT-22K20772, KAKENHI-PROJECT-22KK0113, KAKENHI-PROJECT-23K07291, KAKENHI-PROJECT-21K15905, KAKENHI-PROJECT-22K15939, KAKENHI-PROJECT-23K24302
  • [Journal Article] Janus kinase inhibitors ameliorate clinical symptoms in patients with STAT3 gain-of-function2023

    • Author(s)
      Kaneko Shuya、Sakura Fumiaki、Tanita Kay、Shimbo Asami、Nambu Ryusuke、Yoshida Masashi、Umetsu Shuichiro、Inui Ayano、Okada Chizuru、Tsumura Miyuki、Yamada Mamiko、Suzuki Hisato、Kosaki Kenjiro、Ohara Osamu、Shimizu Masaki、Morio Tomohiro、Okada Satoshi、Kanegane Hirokazu
    • Journal Title

      Immunotherapy Advances

      Volume: 3 Issue: 1

    • DOI

      10.1093/immadv/ltad027

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-22KK0113, KAKENHI-PROJECT-22K07887, KAKENHI-PROJECT-23K07268, KAKENHI-PROJECT-20K08158, KAKENHI-PROJECT-23K24302
  • [Journal Article] Clinical significance of human neutrophil antigen-1 antibodies in children with neutropenia2023

    • Author(s)
      Goda Satoshi、Karakawa Shuhei、Okada Satoshi、Kawaguchi Hiroshi、Kurita Emi、Noma Mitsunori、Yamaoka Aiko、Komatsu Mayumi、Yanai Ayaka、Kashihara Mayu、Fujii Teruhisa、Onodera Rie、Taniguchi Kikuyo、Aizawa Mika、Kobayashi Masao
    • Journal Title

      International Journal of Hematology

      Volume: 118 Issue: 5 Pages: 627-635

    • DOI

      10.1007/s12185-023-03661-4

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22KK0113, KAKENHI-PROJECT-23K24302
  • [Journal Article] Fatal COVID-19 Infection in Two Children with STAT1 Gain-of-Function2023

    • Author(s)
      Staines-Boone Aide Tamara、Vignesh Pandiarajan、Tsumura Miyuki、de la Garza Fernandez German、Tyagi Reva、Rawat Amit、Das Jhumki、Tomomasa Dan、Asano Takaki、Hijikata Atsushi、Salazar-Galvez Yuridia、Kanegane Hirokazu、Okada Satoshi、Reyes Saul O Lugo
    • Journal Title

      Journal of Clinical Immunology

      Volume: 44 Issue: 1 Pages: 20-20

    • DOI

      10.1007/s10875-023-01634-0

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-23K14979, KAKENHI-PROJECT-22K20772, KAKENHI-PROJECT-22KK0113, KAKENHI-PROJECT-22K07887, KAKENHI-PROJECT-23K07268, KAKENHI-PROJECT-20K08158, KAKENHI-PROJECT-23K24302
  • [Journal Article] Assessment of type I interferon signatures in undifferentiated inflammatory diseases: A Japanese multicenter experience.2022

    • Author(s)
      Miyamoto T, Honda Y, Izawa K, Kanazawa N, Saito MK, Takita J, Nishikomori R, Yasumi T, et al.
    • Journal Title

      Front Immunol

      Volume: 13 Pages: 905960-905960

    • DOI

      10.3389/fimmu.2022.905960

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K08798, KAKENHI-PROJECT-21K07770, KAKENHI-PROJECT-22K06999, KAKENHI-PROJECT-22K07829, KAKENHI-PROJECT-22K07867, KAKENHI-PROJECT-19K08754, KAKENHI-PROJECT-23K24302
  • [Journal Article] The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies2022

    • Author(s)
      Manry J, Bastard P, Gervais A, Le Voyer T, Rosain J, Philippot Q, Michailidis E, Hoffmann HH, Eto S,・・・, Tsumura M, et al
    • Journal Title

      Proceedings of the National Academy of Sciences

      Volume: 119 Issue: 21

    • DOI

      10.1073/pnas.2200413119

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20K08158, KAKENHI-PROJECT-23K24302, KAKENHI-PROJECT-19K10554
  • [Journal Article] Early diagnosis of partial interferon-γ receptor 1 deficiency prevents the development of Bacille de Calmette et Guerin osteomyelitis2022

    • Author(s)
      Tomomasa Dan、Tanita Kay、Higashi Seishi、Tasaka Yuri、Shimamura Takashi、Sakurai Urara、Matsubara Tomoyo、Okada Satoshi、Morio Tomohiro、Kanegane Hirokazu
    • Journal Title

      Clinical Immunology

      Volume: 235 Pages: 108933-108933

    • DOI

      10.1016/j.clim.2022.108933

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-20J10721, KAKENHI-PROJECT-22K07887
  • [Journal Article] Mendelian susceptibility to mycobacterial diseases: state-of-the-art2022

    • Author(s)
      Noma Kosuke、Mizoguchi Yoko、Tsumura Miyuki、Okada Satoshi
    • Journal Title

      Clinical Microbiology and Infection

      Volume: - Issue: 11 Pages: 00143-4

    • DOI

      10.1016/j.cmi.2022.03.004

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-20K08158, KAKENHI-PROJECT-21K15905, KAKENHI-PROJECT-22KK0113, KAKENHI-PROJECT-23K24302
  • [Journal Article] Myocarditis in 13-Year-Old Monochorionic Diamniotic Twins After COVID-19 Vaccination2022

    • Author(s)
      Nishibayashi H, Kishimoto S, Sekiguchi K, Okada S, Ihara K.
    • Journal Title

      Journal of Clinical Immunology

      Volume: 42 Issue: 7 Pages: 1351-1353

    • DOI

      10.1007/s10875-022-01360-z

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23K24302
  • [Journal Article] Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency2022

    • Author(s)
      Campbell TM, Liu Z, Zhang Q, Moncada-Velez M, Covill LE, Zhang P, Alavi Darazam I, Bastard P, Bizien L, Bucciol G, Lind Enoksson S, Jouanguy E, ...; COVID Human Genetic Effort (group author: Satoshi Okada), Bergman P, Abel L, Cobat A, Casanova JL, Meyts I, Bryceson YT.
    • Journal Title

      Journal of Experimental Medicine

      Volume: 219 Issue: 7

    • DOI

      10.1084/jem.20220202

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-22KK0113, KAKENHI-PROJECT-23K24302
  • [Journal Article] Therapeutic options for CTLA-4 insufficiency2022

    • Author(s)
      Egg David、Rump Ina Caroline、Mitsuiki Noriko、Rojas-Restrepo Jessica、Maccari Maria-Elena、 Schwab Charlotte、Gabrysch Annemarie、Warnatz Klaus、Goldacker Sigune、Patino Virginia、Wolff Daniel、Okada Satoshi、et al.
    • Journal Title

      Journal of Allergy and Clinical Immunology

      Volume: 149 Issue: 2 Pages: 736-746

    • DOI

      10.1016/j.jaci.2021.04.039

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-19H03620
  • [Journal Article] Novel STAT1 Variants in Japanese Patients with Isolated Mendelian Susceptibility to Mycobacterial Diseases2022

    • Author(s)
      Ono R, Tsumura M, Shima S, Matsuda Y, Gotoh K, Miyata Y, Yoto Y, Tomomasa D, Utsumi T, Ohnishi H, Kato Z, Ishiwada N, Ishikawa A, Wada T, Uhara H, Nishikomori R, Hasegawa D, Okada S, Kanegane H.
    • Journal Title

      Journal of Clinical Immunology

      Volume: 43 Issue: 2 Pages: 466-478

    • DOI

      10.1007/s10875-022-01396-1

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-20K08158, KAKENHI-PROJECT-21K07770, KAKENHI-PROJECT-22K07829, KAKENHI-PROJECT-22K07841, KAKENHI-PROJECT-22K07887, KAKENHI-PROJECT-22KK0113, KAKENHI-PROJECT-20K16937, KAKENHI-PROJECT-23K24302
  • [Journal Article] Decoding the Human Genetic and Immunological Basis of COVID-19 mRNA Vaccine-Induced Myocarditis2022

    • Author(s)
      Bolze A, Mogensen TH, Zhang SY, Abel L, Andreakos E, Arkin LM, Borghesi A, Brodin P, Hagin D, Novelli G, Okada S, Peter J, Renia L, Severe K, Tiberghien P, Vinh DC; COVID human genetic effort, Cirulli ET, Casanova JL, Hsieh EWY.
    • Journal Title

      Journal of Clinical Immunology

      Volume: 42 Issue: 7 Pages: 1354-1359

    • DOI

      10.1007/s10875-022-01372-9

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-23K24302
  • [Journal Article] 自己炎症性疾患関連血管炎2022

    • Author(s)
      土居 岳彦, 野間 康輔, 岡田 賢
    • Journal Title

      日本免疫不全・自己炎症学会雑誌

      Volume: 1 Pages: 3-12

    • NAID

      130008142176

    • Data Source
      KAKENHI-PROJECT-19H03620
  • [Journal Article] Enhanced osteoclastogenesis in patients with MSMD due to impaired response to IFN-γ2022

    • Author(s)
      Tsumura Miyuki、Miki Mizuka、Mizoguchi Yoko、Hirata Osamu、Nishimura Shiho、Tamaura Moe、Kagawa Reiko、Hayakawa Seiichi、Kobayashi Masao、Okada Satoshi
    • Journal Title

      Journal of Allergy and Clinical Immunology

      Volume: 149 Issue: 1 Pages: 252-261

    • DOI

      10.1016/j.jaci.2021.05.018

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K17301, KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-20K08158, KAKENHI-PROJECT-21K15905, KAKENHI-PROJECT-21K15904, KAKENHI-PROJECT-22K15921, KAKENHI-PROJECT-20K22780
  • [Journal Article] Neutralizing Type I Interferon Autoantibodies in Japanese Patients with Severe COVID-192022

    • Author(s)
      Eto S, Nukui Y, Tsumura M, Nakagama Y, Kashimada K, Mizoguchi Y, Utsumi T, Taniguchi M, Sakura F, Noma K, Yoshida Y, Ohshimo S, Nagashima S, Okamoto K, Endo A, Imai K, Kanegane H, Ohnishi H, Hirata S, Sugiyama E, Shime N, Ito M, Ohge H, Kido Y, Bastard P, Casanova JL, Ohara O, Tanaka J, Morio T, Okada S
    • Journal Title

      Journal of Clinical Immunology

      Volume: 42 Issue: 7 Pages: 1360-1370

    • DOI

      10.1007/s10875-022-01308-3

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20K08158, KAKENHI-PROJECT-21K07770, KAKENHI-PROJECT-22K07887, KAKENHI-PROJECT-21K15905, KAKENHI-PROJECT-20K17460, KAKENHI-PROJECT-23K24302
  • [Journal Article] Human T-bet governs the generation of a distinct subset of CD11chighCD21low B cells2022

    • Author(s)
      Yang R, Avery DT, Jackson KJL, Ogishi M, Benhsaien I, Du L, Ye X, Han J, Rosain J, Peel JN, Alyanakian MA, Neven B, Winter S, Puel A, Boisson B, Payne KJ, Wong M, Russell AJ, Mizoguchi Y, . et al.
    • Journal Title

      Science Immunology

      Volume: 7 Issue: 73 Pages: 3277-3290

    • DOI

      10.1126/sciimmunol.abq3277

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-21K15905, KAKENHI-PROJECT-22KK0113, KAKENHI-PROJECT-23K24302
  • [Journal Article] 先天性免疫異常2021

    • Author(s)
      玉浦 萌, 岡田 賢
    • Journal Title

      臨床免疫・アレルギー科

      Volume: 75 Pages: 63-76

    • NAID

      40022452477

    • Data Source
      KAKENHI-PROJECT-18KK0228
  • [Journal Article] NBS1 I171V variant underlies individual differences in chromosomal radiosensitivity within human populations2021

    • Author(s)
      Tomioka K, Miyamoto T, Akutsu SN, Yanagihara H, Fujita K, Royba E, Tauchi H, Yamamoto T, Koh I, Hirata E, Kudo Y, Kobayashi M, Okada S, Matsuura S
    • Journal Title

      Scientific Reports

      Volume: 11 Issue: 1 Pages: 1-13

    • DOI

      10.1038/s41598-021-98673-7

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-19K22515, KAKENHI-PROJECT-19K16520, KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-19H04270, KAKENHI-PROJECT-21H02718, KAKENHI-PROJECT-20K21845
  • [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] Successful Hematopoietic Stem Cell Transplantation for Autosomal Recessive STAT1 Complete Deficiency2021

    • Author(s)
      Karakawa Shuhei、Shimomura Maiko、Sakata Sonoko、Matsubayashi Tadashi、Okada Satoshi
    • Journal Title

      Journal of Clinical Immunology

      Volume: 41 Issue: 3 Pages: 684-687

    • DOI

      10.1007/s10875-020-00948-7

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-18KK0228
  • [Journal Article] Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation2021

    • Author(s)
      Beck David B.、Basar Mohammed A.、Asmar Anthony J.、Thompson Joyce J.、Oda Hirotsugu、Uehara Daniela T.、Saida Ken、Pajusalu Sander、Talvik Inga、D’Souza Precilla、Bodurtha Joann、Mu Weiyi、Baranano Kristin W.、Miyake Noriko、Wang Raymond、Kempers Marlies、Tamada Tomoko、Nishimura Yutaka、Okada Satoshi、et al.
    • Journal Title

      Science Advances

      Volume: 7 Issue: 4

    • DOI

      10.1126/sciadv.abe2116

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-18KK0228
  • [Journal Article] 好中球減少症(自己免疫性好中球減少症、重症先天性好中球減少症)2021

    • Author(s)
      郷田 聡, 川口浩史, 岡田 賢
    • Journal Title

      小児内科

      Volume: 53 Pages: 1094-1098

    • Data Source
      KAKENHI-PROJECT-19H03620
  • [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] Case Report: A New Gain-of-Function Mutation of STAT1 Identified in a Patient With Chronic Mucocutaneous Candidiasis and Rosacea-Like Demodicosis: An Emerging Association2021

    • Author(s)
      Martinot Martin、Korganow Anne Sophie、Wald Mathieu、Second Julie、Birckel Elodie、Mahe Antoine、Souply Laurent、Mohseni-Zadeh Mahsa、Droy Laure、Tarabeux Julien、Okada Satoshi、 Migaud Melanie、Puel Anne、Guffroy Aurelien
    • Journal Title

      Frontiers in Immunology

      Volume: 12 Pages: 760019-760019

    • DOI

      10.3389/fimmu.2021.760019

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19H03620
  • [Journal Article] Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency2021

    • Author(s)
      Le Voyer Tom、Sakata Sonoko、Tsumura Miyuki、Khan Taushif、Esteve-Sole Ana、Al-Saud Bandar K.、 Gungor Hatice Eke、Taur Prasad、Jeanne-Julien Valentine、Christiansen Mette、Kohler Lisa- Maria、ElGhazali Gehad Eltayeb、Rosain Jeremie、Nishimura Shiho、Sakura Fumiaki、...、Okada Satoshi、Bustamante Jacinta
    • Journal Title

      The Journal of Immunology

      Volume: 207 Issue: 1 Pages: 133-152

    • DOI

      10.4049/jimmunol.2001451

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-20K08158
  • [Journal Article] 維持療法中にヒトパルボウイルスB19 感染による急激な貧血を伴う血球減少を呈した混合形質性急性白血病の一例2021

    • Author(s)
      芦原康介,松村梨紗,望月慎史,森下祐介,野間康輔,川口浩史,小林正夫,岡田 賢
    • Journal Title

      日本小児血液・がん学会雑誌

      Volume: 58 Pages: 442-445

    • NAID

      130008158330

    • Data Source
      KAKENHI-PROJECT-19H03620
  • [Journal Article] A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS2021

    • Author(s)
      Yamashita Motoi、Kuehn Hye Sun、Okuyama Kazuki、Okada Satoshi、Inoue Yuzaburo、Takagi Masatoshi、Kanegane Hirokazu、Takeuchi Masahiro、Shimojo Naoki、Tsumura Miyuki、Padhi Aditya K.、Zhang Kam Y. J.、Boisson Bertrand、Casanova Jean-Laurent、Ohara Osamu、Rosenzweig Sergio D.、Taniuchi Ichiro、Morio Tomohiro
    • Journal Title

      Nature Immunology

      Volume: 22 Issue: 7 Pages: 893-903

    • DOI

      10.1038/s41590-021-00951-z

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PLANNED-19H05747, KAKENHI-PROJECT-19H03614, KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-21H02879, KAKENHI-PROJECT-20K07459, KAKENHI-PROJECT-20K08158, KAKENHI-PROJECT-20K16884
  • [Journal Article] Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency2021

    • Author(s)
      Kanazawa N, Hemmi H, Kinjo N, Ohnishi H, Hamazaki J, M.H, K.A, M.T, H.S, K.N, K.S, H.Y, I.K, N.R, T.M, Y.Y, T.S, O.T, O.T, K.T, S.I, F.Y, W.N, I.Y, K.K, O.S, T.T, N.K, M.S, Y.K, Kaisho T
    • Journal Title

      Nature Communications

      Volume: 12 Issue: 1 Pages: 0-0

    • DOI

      10.1038/s41467-021-27085-y

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-19K07062, KAKENHI-PROJECT-19K07628, KAKENHI-PROJECT-19K08299, KAKENHI-PROJECT-20K16289, KAKENHI-ORGANIZER-18H05497, KAKENHI-PLANNED-18H05500, KAKENHI-PROJECT-18H04022, KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-20H03505, KAKENHI-PROJECT-20H03591, KAKENHI-PROJECT-21J22615, KAKENHI-PROJECT-19K08754, KAKENHI-PROJECT-19K08798, KAKENHI-PROJECT-19K09993, KAKENHI-PROJECT-20K08158, KAKENHI-PROJECT-20K08718, KAKENHI-PROJECT-21K06956, KAKENHI-PROJECT-21K07770, KAKENHI-PROJECT-21K07800, KAKENHI-PROJECT-21K19384, KAKENHI-PROJECT-20K17405
  • [Journal Article] Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths2021

    • Author(s)
      Paul Bastard、Adrian Gervais、Tom Le Voyer、Jeremie Rosain、Quentin Philippot、Jeremy Manry、 Eleftherios Michailidis、Hans-Heinrich Hoffmann、Shohei Eto、Marina Garcia-Prat 、Lucy Bizien、 Alba Parra-Martinez、Rui Yang、Liis Haljasmagi、Melanie Migaud、...、Satoshi Okada、et al.
    • Journal Title

      Science Immunology

      Volume: 6 Issue: 62 Pages: 1-26

    • DOI

      10.1126/sciimmunol.abl4340

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-19K10554, KAKENHI-PROJECT-20K08158
  • [Journal Article] 先天性免疫異常2021

    • Author(s)
      玉浦 萌, 岡田 賢
    • Journal Title

      臨床免疫・アレルギー科

      Volume: 75 Pages: 63-76

    • NAID

      40022452477

    • Data Source
      KAKENHI-PROJECT-19H03620
  • [Journal Article] Inborn errors of STAT1 immunity2021

    • Author(s)
      Mizoguchi Yoko、Okada Satoshi
    • Journal Title

      Current Opinion in Immunology

      Volume: 72 Pages: 59-64

    • DOI

      10.1016/j.coi.2021.02.009

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-21K15905
  • [Journal Article] Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants2021

    • Author(s)
      Sevim Bayrak Cigdem、Stein David、Jain Aayushee、Chaudhary Kumardeep、Nadkarni Girish N.、Van Vleck Tielman T.、Puel Anne、Boisson-Dupuis Stephanie、Okada Satoshi、Stenson Peter D.、Cooper David N.、Schlessinger Avner、Itan Yuval
    • Journal Title

      The American Journal of Human Genetics

      Volume: 108 Issue: 12 Pages: 2301-2318

    • DOI

      10.1016/j.ajhg.2021.10.007

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-19H03620
  • [Journal Article] Novel STAT-3 gain-of-function variant with hypogammaglobulinemia and recurrent infection phenotype2021

    • Author(s)
      Melinda Erdos、Miyuki Tsumura、Judit Kallai、Arpad Lanyi、Zoltan Nyul、Gyorgy Balazs、Satoshi Okada、Laszlo Marodi
    • Journal Title

      Clinical and Experimental Immunology

      Volume: 205 Issue: 3 Pages: 354-362

    • DOI

      10.1111/cei.13625

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-20K08158
  • [Journal Article] A Novel Homozygous Mutation Destabilizes IKKβ and Leads to Human Combined Immunodeficiency2021

    • Author(s)
      Qin Tao、Jia Yanjun、Liu Yuhang、Dai Rongxin、Zhou Lina、Okada Satoshi、Tsumura Miyuki、Ohnishi Hidenori、Kato Zenichiro、Kanegane Hirokazu、Sun Xiulian、Zhao Xiaodong
    • Journal Title

      Frontiers in Immunology

      Volume: 11 Pages: 517544-517544

    • DOI

      10.3389/fimmu.2020.517544

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-19K08249, KAKENHI-PROJECT-20K08158, KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-18K07840, KAKENHI-PROJECT-18KK0228
  • [Journal Article] The expansion of human T-bet high CD21 low B cells is T cell dependent2021

    • Author(s)
      Keller Baerbel、Strohmeier Valentina、Harder Ina、Unger Susanne、Payne Kathryn J.、Andrieux Geoffroy、Boerries Melanie、Felixberger Peter Tobias、Landry Jonathan J. M.、Nieters Alexandra、Rensing-Ehl Anne、Salzer Ulrich、Frede Natalie、Usadel Susanne、Elling Roland、 Speckmann Carsten、...、Okada Satoshi、et al.
    • Journal Title

      Science Immunology

      Volume: 6 Issue: 64

    • DOI

      10.1126/sciimmunol.abh0891

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-19H03620
  • [Journal Article] Pneumococcal serotype-specific opsonophagocytic activity in interleukin-1 receptor-associated kinase 4-deficient patients.2021

    • Author(s)
      Uehara T, Morino S, Oishi K, Nakamura Y, Togashi N, Imaizumi M, Nishimura S, Okada S, Yara A, Fukushima H, Imagawa K, Takada H.
    • Journal Title

      Pediatr Infect Dis J

      Volume: 40 Issue: 5 Pages: 460-463

    • DOI

      10.1097/inf.0000000000003060

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19H03613, KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-18KK0228
  • [Journal Article] Possible involvement of regulatory T cell abnormalities and variational usage of TCR repertoire in children with autoimmune neutropenia2020

    • Author(s)
      Goda S.、Hayakawa S.、Karakawa S.、Okada S.、Kawaguchi H.、Kobayashi M.
    • Journal Title

      Clinical & Experimental Immunology

      Volume: 204 Issue: 1 Pages: 1-13

    • DOI

      10.1111/cei.13559

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-18KK0228
  • [Journal Article] DBR1欠損2020

    • Author(s)
      坂田 園子, 岡田 賢
    • Journal Title

      日本臨床 8巻増刊7 原発性免疫不全症候群

      Volume: 8 Pages: 351-353

    • Data Source
      KAKENHI-PROJECT-19H03620
  • [Journal Article] IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 Reactivation2020

    • Author(s)
      Nishimura Shiho、Kobayashi Yoshiyuki、Ohnishi Hidenori、Moriya Kunihiko、Tsumura Miyuki、Sakata Sonoko、Mizoguchi Yoko、Takada Hidetoshi、Kato Zenichiro、Sancho-Shimizu Vanessa、Picard Capucine、Irani Sarosh R.、Ohara Osamu、Casanova Jean-Laurent、Puel Anne、Ishikawa Nobutsune、Okada Satoshi、Kobayashi Masao
    • Journal Title

      Journal of Clinical Immunology

      Volume: 41 Issue: 1 Pages: 125-135

    • DOI

      10.1007/s10875-020-00885-5

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20K08158, KAKENHI-PROJECT-19H03613, KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-18K07840, KAKENHI-PROJECT-18K07847, KAKENHI-PROJECT-18K15716, KAKENHI-PROJECT-18KK0228, KAKENHI-PROJECT-21K07791
  • [Journal Article] RNA polymerase III欠損症2020

    • Author(s)
      今中 雄介, 岡田 賢
    • Journal Title

      日本臨床 8巻増刊7 原発性免疫不全症候群

      Volume: 8 Pages: 345-347

    • Data Source
      KAKENHI-PROJECT-19H03620
  • [Journal Article] ゲノム編集と治療 ゲノム編集技術を活用した重症先天性好中球減少症の治療開発2020

    • Author(s)
      今中 雄介, 岡田 賢
    • Journal Title

      医学のあゆみ

      Volume: 273 Pages: 835-840

    • Data Source
      KAKENHI-PROJECT-19H03620
  • [Journal Article] SPPL2a欠損症2020

    • Author(s)
      冨岡 啓太, 岡田 賢
    • Journal Title

      日本臨床 8巻増刊7 原発性免疫不全症候群

      Volume: 8 Pages: 313-315

    • Data Source
      KAKENHI-PROJECT-18KK0228
  • [Journal Article] P1104A TYK2 homozygosity2020

    • Author(s)
      早川 誠一, 岡田 賢
    • Journal Title

      日本臨床 8巻増刊7 原発性免疫不全症候群

      Volume: 8 Pages: 316-318

    • NAID

      40022450587

    • Data Source
      KAKENHI-PROJECT-19H03620
  • [Journal Article] 内因性あるいは自然免疫の異常 概論およびトピックス2020

    • Author(s)
      岡田 賢
    • Journal Title

      日本臨床 8巻増刊7 原発性免疫不全症候群

      Volume: 8 Pages: 303-312

    • Data Source
      KAKENHI-PROJECT-19H03620
  • [Journal Article] CD16欠損症2020

    • Author(s)
      江藤 昌平, 岡田 賢
    • Journal Title

      日本臨床 8巻増刊7 原発性免疫不全症候群

      Volume: 8 Pages: 363-365

    • Data Source
      KAKENHI-PROJECT-18KK0228
  • [Journal Article] Impaired B-Cell Differentiation in a Patient With STAT1 Gain-of-Function Mutation.2020

    • Author(s)
      Nemoto K, Kawanami T, Hoshina T, Ishimura M, Yamasaki K, Okada S, Kanegane H, Yatera K, Kusuhara K.
    • Journal Title

      Front Immunol

      Volume: 11 Pages: 557521-557521

    • DOI

      10.3389/fimmu.2020.557521

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-20K08173, KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-18KK0228
  • [Journal Article] CIB1欠損症2020

    • Author(s)
      溝口 洋子, 岡田 賢
    • Journal Title

      日本臨床 8巻増刊7 原発性免疫不全症候群

      Volume: 8 Pages: 325-327

    • Data Source
      KAKENHI-PROJECT-19H03620
  • [Journal Article] RORγT欠損症2020

    • Author(s)
      岡田 賢
    • Journal Title

      日本臨床 8巻増刊7 原発性免疫不全症候群

      Volume: 8 Pages: 319-321

    • Data Source
      KAKENHI-PROJECT-19H03620
  • [Journal Article] Successful allogeneic bone marrow transplantation using immunosuppressive conditioning regimen for a patient with red blood cell transfusion-dependent pyruvate kinase deficiency anemia2020

    • Author(s)
      Shimomura Maiko、Doi Takehiko、Nishimura Shiho、Imanaka Yusuke、Karakawa Shuhei、Okada Satoshi、Kawaguchi Hiroshi、Kobayashi Masao
    • Journal Title

      Hematology Reports

      Volume: 12 Issue: 1 Pages: 8305-8305

    • DOI

      10.4081/hr.2020.8305

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-18KK0228
  • [Journal Article] IRF9欠損症2020

    • Author(s)
      加藤 豊, 岡田 賢
    • Journal Title

      日本臨床 8巻増刊7 原発性免疫不全症候群

      Volume: 8 Pages: 328-330

    • Data Source
      KAKENHI-PROJECT-19H03620
  • [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] IFNAR2欠損症2020

    • Author(s)
      郷田 聡, 岡田 賢
    • Journal Title

      日本臨床 8巻増刊7 原発性免疫不全症候群

      Volume: 8 Pages: 335-338

    • Data Source
      KAKENHI-PROJECT-18KK0228
  • [Journal Article] JAK1欠損症2020

    • Author(s)
      西村 志帆, 岡田 賢
    • Journal Title

      日本臨床 8巻増刊7 原発性免疫不全症候群

      Volume: 8 Pages: 322-324

    • Data Source
      KAKENHI-PROJECT-18KK0228
  • [Journal Article] Downregulation of endothelial nitric oxide synthase (eNOS) and endothelin-1 (ET-1) in a co-culture system with human stimulated X-linked CGD neutrophils2020

    • Author(s)
      Nakamura-Utsunomiya Akari、Tsumura Miyuki、Okada Satoshi、Kawaguchi Hiroshi、Kobayashi Masao
    • Journal Title

      PLOS ONE

      Volume: 15 Issue: 4 Pages: e0230665-e0230665

    • DOI

      10.1371/journal.pone.0230665

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-17K10112, KAKENHI-PROJECT-17K19600, KAKENHI-PROJECT-20K08158, KAKENHI-PROJECT-19H03620, 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] Bone marrow transplantation from a human leukocyte antigen-mismatched unrelated donor in a case with C1q deficiency associated with refractory systemic lupus erythematosus2020

    • Author(s)
      Matsumura Risa、Mochizuki Shinji、Maruyama Natsuki、Morishita Yusuke、Kawaguchi Hiroshi、Okada Satoshi、Tsumura Miyuki、Kaji Shunsaku、Shimizu Junya、Shimada Akira、Kobayashi Masao
    • Journal Title

      International Journal of Hematology

      Volume: 113 Issue: 2 Pages: 302-307

    • DOI

      10.1007/s12185-020-03004-7

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-20K08158, KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-18K07847, KAKENHI-PROJECT-18KK0228
  • [Journal Article] IFNAR2欠損症2020

    • Author(s)
      郷田 聡, 岡田 賢
    • Journal Title

      日本臨床 8巻増刊7 原発性免疫不全症候群

      Volume: 8 Pages: 335-338

    • Data Source
      KAKENHI-PROJECT-19H03620
  • [Journal Article] 研究の進歩 責任遺伝子探索2020

    • Author(s)
      岡田 賢
    • Journal Title

      日本臨床 8巻増刊7 原発性免疫不全症候群

      Volume: 8 Pages: 21-26

    • Data Source
      KAKENHI-PROJECT-18KK0228
  • [Journal Article] CIB1欠損症2020

    • Author(s)
      溝口 洋子, 岡田 賢
    • Journal Title

      日本臨床 8巻増刊7 原発性免疫不全症候群

      Volume: 8 Pages: 325-327

    • Data Source
      KAKENHI-PROJECT-18KK0228
  • [Journal Article] IRF3欠損症2020

    • Author(s)
      佐倉 文祥, 岡田 賢
    • Journal Title

      日本臨床 8巻増刊7 原発性免疫不全症候群

      Volume: 8 Pages: 348-350

    • Data Source
      KAKENHI-PROJECT-18KK0228
  • [Journal Article] Acute liver failure due to NBAS deficiency2020

    • Author(s)
      藤川 皓基, 岡田 賢
    • Journal Title

      日本臨床 8巻増刊7 原発性免疫不全症候群

      Volume: 8 Pages: 363-365

    • NAID

      40022450096

    • Data Source
      KAKENHI-PROJECT-18KK0228
  • [Journal Article] Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy2020

    • Author(s)
      Okada Satoshi、Asano Takaki、Moriya Kunihiko、Boisson-Dupuis Stephanie、Kobayashi Masao、Casanova Jean-Laurent、Puel Anne
    • Journal Title

      Journal of Clinical Immunology

      Volume: 40 Issue: 8 Pages: 1065-1081

    • DOI

      10.1007/s10875-020-00847-x

    • NAID

      120007168960

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-18K07847, KAKENHI-PROJECT-18KK0228
  • [Journal Article] Ruxolitinib Response in an Infant With Very-early-onset Inflammatory Bowel Disease and Gain-of-function STAT1 Mutation2020

    • Author(s)
      Acker Karen P.、Borlack Rachel、Iuga Alina、Remotti Helen E.、Soderquist Craig R.、Okada Satoshi、Tsumura Miyuki、Casanova Jean-Laurent、Picoraro Joseph、Puel Anne、Kinberg Sivan、Demirdag Yesim
    • Journal Title

      Journal of Pediatric Gastroenterology & Nutrition

      Volume: 71 Issue: 4

    • DOI

      10.1097/mpg.0000000000002854

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20K08158, KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-18KK0228
  • [Journal Article] CD16欠損症2020

    • Author(s)
      江藤 昌平, 岡田 賢
    • Journal Title

      日本臨床 8巻増刊7 原発性免疫不全症候群

      Volume: 8 Pages: 339-341

    • Data Source
      KAKENHI-PROJECT-19H03620
  • [Journal Article] IRF3欠損症2020

    • Author(s)
      佐倉 文祥, 岡田 賢
    • Journal Title

      日本臨床 8巻増刊7 原発性免疫不全症候群

      Volume: 8 Pages: 348-350

    • Data Source
      KAKENHI-PROJECT-19H03620
  • [Journal Article] IL-17RC欠損症2020

    • Author(s)
      齋藤 聡志, 岡田 賢
    • Journal Title

      日本臨床 8巻増刊7 原発性免疫不全症候群

      Volume: 8 Pages: 354-356

    • Data Source
      KAKENHI-PROJECT-19H03620
  • [Journal Article] Acute liver failure due to NBAS deficiency2020

    • Author(s)
      藤川 皓基, 岡田 賢
    • Journal Title

      日本臨床 8巻増刊7 原発性免疫不全症候群

      Volume: 8 Pages: 363-365

    • NAID

      40022450096

    • Data Source
      KAKENHI-PROJECT-19H03620
  • [Journal Article] DBR1欠損2020

    • Author(s)
      坂田 園子, 岡田 賢
    • Journal Title

      日本臨床 8巻増刊7 原発性免疫不全症候群

      Volume: 8 Pages: 351-353

    • Data Source
      KAKENHI-PROJECT-18KK0228
  • [Journal Article] 内因性あるいは自然免疫の異常 概論およびトピックス2020

    • Author(s)
      岡田 賢
    • Journal Title

      日本臨床 8巻増刊7 原発性免疫不全症候群

      Volume: 8 Pages: 303-312

    • Data Source
      KAKENHI-PROJECT-18KK0228
  • [Journal Article] RNA polymerase III欠損症2020

    • Author(s)
      今中 雄介, 岡田 賢
    • Journal Title

      日本臨床 8巻増刊7 原発性免疫不全症候群

      Volume: 8 Pages: 339-341

    • Data Source
      KAKENHI-PROJECT-18KK0228
  • [Journal Article] 研究の進歩 責任遺伝子探索2020

    • Author(s)
      岡田 賢
    • Journal Title

      日本臨床 8巻増刊7 原発性免疫不全症候群

      Volume: 8 Pages: 21-26

    • Data Source
      KAKENHI-PROJECT-19H03620
  • [Journal Article] T+/low B+NK+の表現型を呈した非典型的X連鎖性重症複合免疫不全症2020

    • Author(s)
      江口 勇太,土居 岳彦,野間 康輔,浅野 孝基,岡田 賢,小林 正夫
    • Journal Title

      日本小児科学会雑誌

      Volume: 123 Pages: 1009-1014

    • Data Source
      KAKENHI-PROJECT-19H03620
  • [Journal Article] IFNAR1欠損症2020

    • Author(s)
      郷田 聡, 岡田 賢
    • Journal Title

      日本臨床 8巻増刊7 原発性免疫不全症候群

      Volume: 8 Pages: 331-334

    • Data Source
      KAKENHI-PROJECT-18KK0228
  • [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] RORγT欠損症2020

    • Author(s)
      岡田 賢
    • Journal Title

      日本臨床 8巻増刊7 原発性免疫不全症候群

      Volume: 8 Pages: 319-321

    • Data Source
      KAKENHI-PROJECT-18KK0228
  • [Journal Article] Clinical characteristics and treatment of 50 cases of Blau syndrome in Japan confirmed by genetic analysis of the NOD2 mutation2020

    • Author(s)
      Matsuda, T. Kambe, N. Hosokawa, J. Ohara, O. Saito, M. K. Nishikomori, R.
    • Journal Title

      Annals of the Rheumatic Diseases

      Volume: 79 Issue: 11 Pages: 1492-1499

    • DOI

      10.1136/annrheumdis-2020-217320

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19K08299, KAKENHI-PROJECT-19K08784, KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-18K07814, KAKENHI-PROJECT-18K08265, KAKENHI-PROJECT-18KK0228
  • [Journal Article] P1104A TYK2 homozygosity2020

    • Author(s)
      早川 誠一, 岡田 賢
    • Journal Title

      日本臨床 8巻増刊7 原発性免疫不全症候群

      Volume: 8 Pages: 316-318

    • NAID

      40022450587

    • Data Source
      KAKENHI-PROJECT-18KK0228
  • [Journal Article] 非結核性抗酸菌ならびに真菌に易感染性を示す免疫不全症2020

    • Author(s)
      岡田 賢
    • Journal Title

      小児科診療

      Volume: 83 Pages: 335-340

    • Data Source
      KAKENHI-PROJECT-19H03620
  • [Journal Article] IFNAR1欠損症2020

    • Author(s)
      郷田 聡, 岡田 賢
    • Journal Title

      日本臨床 8巻増刊7 原発性免疫不全症候群

      Volume: 8 Pages: 331-334

    • Data Source
      KAKENHI-PROJECT-19H03620
  • [Journal Article] 急性壊死性脳症2020

    • Author(s)
      野間康輔, 岡田 賢
    • Journal Title

      日本臨床 8巻増刊7 原発性免疫不全症候群

      Volume: 8 Pages: 366-368

    • Data Source
      KAKENHI-PROJECT-18KK0228
  • [Journal Article] Clinical Significance of Serum Soluble TNF Receptor I/II Ratio for the Differential Diagnosis of Tumor Necrosis Factor Receptor-Associated Periodic Syndrome From Other Autoinflammatory Diseases2020

    • Author(s)
      Yasumura Junko、Shimizu Masaki、Toma Tomoko、Yashiro Masato、Yachie Akihiro、Okada Satoshi
    • Journal Title

      Frontiers in Immunology

      Volume: 11 Pages: 576152-576152

    • DOI

      10.3389/fimmu.2020.576152

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-18KK0228
  • [Journal Article] リンパ増殖性疾患と原発性免疫不全2020

    • Author(s)
      土居 岳彦, 岡田 賢
    • Journal Title

      臨床血液

      Volume: 61 Pages: 1365-1372

    • NAID

      130007937083

    • Data Source
      KAKENHI-PROJECT-19H03620
  • [Journal Article] 急性壊死性脳症2020

    • Author(s)
      野間康輔, 岡田 賢
    • Journal Title

      日本臨床 8巻増刊7 原発性免疫不全症候群

      Volume: 8 Pages: 366-368

    • Data Source
      KAKENHI-PROJECT-19H03620
  • [Journal Article] ゲノム編集と治療 ゲノム編集技術を活用した重症先天性好中球減少症の治療開発2020

    • Author(s)
      今中 雄介, 岡田 賢
    • Journal Title

      医学のあゆみ

      Volume: 273 Pages: 835-840

    • Data Source
      KAKENHI-PROJECT-18KK0228
  • [Journal Article] SPPL2a欠損症2020

    • Author(s)
      冨岡 啓太, 岡田 賢
    • Journal Title

      日本臨床 8巻増刊7 原発性免疫不全症候群

      Volume: 8 Pages: 313-315

    • Data Source
      KAKENHI-PROJECT-19H03620
  • [Journal Article] IL-17RC欠損症2020

    • Author(s)
      齋藤 聡志, 岡田 賢
    • Journal Title

      日本臨床 8巻増刊7 原発性免疫不全症候群

      Volume: 8 Pages: 354-356

    • Data Source
      KAKENHI-PROJECT-18KK0228
  • [Journal Article] IRF9欠損症2020

    • Author(s)
      加藤 豊, 岡田 賢
    • Journal Title

      日本臨床 8巻増刊7 原発性免疫不全症候群

      Volume: 8 Pages: 328-330

    • Data Source
      KAKENHI-PROJECT-18KK0228
  • [Journal Article] JAK1欠損症2020

    • Author(s)
      西村 志帆, 岡田 賢
    • Journal Title

      日本臨床 8巻増刊7 原発性免疫不全症候群

      Volume: 8 Pages: 322-324

    • Data Source
      KAKENHI-PROJECT-19H03620
  • [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] T+/low B+NK+の表現型を呈した非典型的X連鎖性重症複合免疫不全症2020

    • Author(s)
      江口 勇太,土居 岳彦,野間 康輔,浅野 孝基,岡田 賢,小林 正夫
    • Journal Title

      日本小児科学会雑誌

      Volume: 123 Pages: 1009-1014

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18KK0228
  • [Journal Article] リンパ増殖性疾患と原発性免疫不全2020

    • Author(s)
      土居 岳彦, 岡田 賢
    • Journal Title

      臨床血液

      Volume: 61 Pages: 1365-1372

    • NAID

      130007937083

    • Data Source
      KAKENHI-PROJECT-18KK0228
  • [Journal Article] A Case Report of a Japanese Boy with Morquio A Syndrome: Effects of Enzyme Replacement Therapy Initiated at the Age of 24 Months2020

    • Author(s)
      Nakamura-Utsunomiya Akari、Nakamae Toshio、Kagawa Reiko、Karakawa Shuhei、Sakata Sonoko、Sakura Fumiaki、Tani Chihiro、Matsubara Yoshiko、Ishino Takashi、Tajima Go、Okada Satoshi
    • Journal Title

      International Journal of Molecular Sciences

      Volume: 21 Issue: 3 Pages: 989-989

    • DOI

      10.3390/ijms21030989

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18KK0228, KAKENHI-PROJECT-19H03620
  • [Journal Article] 真菌感染症2019

    • Author(s)
      玉浦 萌, 岡田 賢
    • Journal Title

      小児内科

      Volume: 51 Pages: 1147-1150

    • Data Source
      KAKENHI-PROJECT-18KK0228
  • [Journal Article] 成人例も含む国内本態性高Na血症12例での脳弓下器官への特異的抗体解析2019

    • Author(s)
      宇都宮 朱里, 檜山 武史, 岡田 賢, 小林 正夫
    • Journal Title

      日本内分泌学会雑誌

      Volume: 95 Pages: 34-37

    • Data Source
      KAKENHI-PROJECT-19H03620
  • [Journal Article] 発熱、貧血、歩行障害を主訴に小児壊血病を発症した自閉スペクトラム症2019

    • Author(s)
      古森 遼太, 土居 岳彦, 野間 康輔, 岡田 賢, 小林 正夫
    • Journal Title

      日本小児科学会雑誌

      Volume: 123 Pages: 1283-1289

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18KK0228
  • [Journal Article] ~これまでの流れから最近の話題まで~2019

    • Author(s)
      浅野 孝基、岡田 賢
    • Journal Title

      The Japanese Journal of Pediatric Hematology / Oncology

      Volume: 56 Issue: 5 Pages: 379-387

    • DOI

      10.11412/jspho.56.379

    • NAID

      130007795815

    • ISSN
      2187-011X, 2189-5384
    • Language
      Japanese
    • Data Source
      KAKENHI-PROJECT-18KK0228, KAKENHI-PROJECT-19H03620
  • [Journal Article] 小児、AYA世代の悪性脳腫瘍サバイバーにおける内分泌学的問題点 GH補充療法を中心に2019

    • Author(s)
      山崎 文之, 木下 康之, 碓井 智, 岡田 賢, 高野 元気, 米澤 潮, 田口 慧, 宮河 真一郎, 富永 篤, 杉山 一彦, 栗栖 薫
    • Journal Title

      日本内分泌学会雑誌

      Volume: 95 Pages: 36-38

    • Data Source
      KAKENHI-PROJECT-18KK0228
  • [Journal Article] 増刊号 検査項目と異常値からみた-緊急・重要疾患レッドページ 10章 膠原病・免疫疾患 免疫不全症2019

    • Author(s)
      浅野 孝基、岡田 賢
    • Journal Title

      臨床検査

      Volume: 63 Issue: 4 Pages: 536-537

    • DOI

      10.11477/mf.1542201999

    • ISSN
      0485-1420, 1882-1367
    • Year and Date
      2019-04-15
    • Data Source
      KAKENHI-PROJECT-18KK0228, KAKENHI-PROJECT-19H03620
  • [Journal Article] 発熱、貧血、歩行障害を主訴に小児壊血病を発症した自閉スペクトラム症2019

    • Author(s)
      古森 遼太, 土居 岳彦, 野間 康輔, 岡田 賢, 小林 正夫
    • Journal Title

      日本小児科学会雑誌

      Volume: 123 Pages: 1283-1289

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19H03620
  • [Journal Article] 小児、AYA世代の悪性脳腫瘍サバイバーにおける内分泌学的問題点 GH補充療法を中心に2019

    • Author(s)
      山崎 文之, 木下 康之, 碓井 智, 岡田 賢, 高野 元気, 米澤 潮, 田口 慧, 宮河 真一郎, 富永 篤, 杉山 一彦, 栗栖 薫
    • Journal Title

      日本内分泌学会雑誌

      Volume: 95 Pages: 36-38

    • Data Source
      KAKENHI-PROJECT-19H03620
  • [Journal Article] Dr. Maeshima, et al, reply2019

    • Author(s)
      MAESHIMA KEISUKE、OKADA SATOSHI、SHIBATA HIROTAKA
    • Journal Title

      The Journal of Rheumatology

      Volume: 46 Issue: 6 Pages: 655-656

    • DOI

      10.3899/jrheum.181455

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18KK0228, KAKENHI-PROJECT-19H03620
  • [Journal Article] Germline-Activating RRAS2 Mutations Cause Noonan Syndrome2019

    • Author(s)
      Niihori Tetsuya、Nagai Koki、Fujita Atsushi、Ohashi Hirofumi、Okamoto Nobuhiko、Okada Satoshi、Harada Atsuko、Kihara Hirotaka、Arbogast Thomas、Funayama Ryo、Shirota Matsuyuki、Nakayama Keiko、Abe Taiki、Inoue Shin-ichi、Tsai I-Chun、Matsumoto Naomichi、Davis Erica E.、Katsanis Nicholas、Aoki Yoko
    • Journal Title

      The American Journal of Human Genetics

      Volume: 104 Issue: 6 Pages: 1233-1240

    • DOI

      10.1016/j.ajhg.2019.04.014

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18KK0228, KAKENHI-PUBLICLY-18H04795, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17H04035, KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-17K10045, KAKENHI-PROJECT-18K19281, KAKENHI-PROJECT-18K15657, KAKENHI-PROJECT-17H04223
  • [Journal Article] Human gain-of-function STAT1 mutation disturbs IL-17 immunity in mice2019

    • Author(s)
      Tamaura Moe、Satoh-Takayama Naoko、Tsumura Miyuki、Sasaki Takaharu、Goda Satoshi、Kageyama Tomoko、Hayakawa Seiichi、Kimura Shunsuke、Asano Takaki、Nakayama Manabu、Koseki Haruhiko、Ohara Osamu、Okada Satoshi、Ohno Hiroshi、Kobayashi Masao
    • Journal Title

      International Immunology

      Volume: - Issue: 4 Pages: 259-272

    • DOI

      10.1093/intimm/dxz079

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18KK0228, KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-17K10112, KAKENHI-PROJECT-20K08158, KAKENHI-PLANNED-19H05745, KAKENHI-PROJECT-16H02622, KAKENHI-PROJECT-18K07189, KAKENHI-PROJECT-18K07847
  • [Journal Article] 真菌感染症2019

    • Author(s)
      玉浦 萌, 岡田 賢
    • Journal Title

      小児内科

      Volume: 51 Pages: 1147-1150

    • Data Source
      KAKENHI-PROJECT-19H03620
  • [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] 成人例も含む国内本態性高Na血症12例での脳弓下器官への特異的抗体解析2019

    • Author(s)
      宇都宮 朱里, 檜山 武史, 岡田 賢, 小林 正夫
    • Journal Title

      日本内分泌学会雑誌

      Volume: 95 Pages: 34-37

    • Data Source
      KAKENHI-PROJECT-18KK0228
  • [Journal Article] Gain-of-Function STAT1 Mutation With Familial Lymphadenopathy and Hodgkin Lymphoma2019

    • Author(s)
      Henrickson Sarah E.、Dolan Joseph G.、Forbes Lisa R.、Vargas-Hernandez Alexander、Nishimura Shiho、Okada Satoshi、Kersun Leslie S.、Brodeur Garrett M.、Heimall Jennifer R.
    • Journal Title

      Frontiers in Pediatrics

      Volume: 7 Pages: 160-160

    • DOI

      10.3389/fped.2019.00160

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19H03620
  • [Journal Article] メンデル遺伝型マイコバクテリア易感染症2018

    • Author(s)
      浅野孝基, 岡田 賢
    • Journal Title

      小児疾患の診断治療基準 改訂5版

      Volume: 改訂5版 Pages: 264-265

    • Data Source
      KAKENHI-PROJECT-16H05355
  • [Journal Article] 慢性皮膚粘膜カンジダ症2018

    • Author(s)
      岡田 賢
    • Journal Title

      小児疾患の診断治療基準

      Volume: 改訂5版 Pages: 266-267

    • NAID

      130005696887

    • Data Source
      KAKENHI-PROJECT-18KK0228
  • [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] 慢性皮膚粘膜カンジダ症2018

    • Author(s)
      岡田 賢
    • Journal Title

      小児疾患の診断治療基準

      Volume: 改訂5版 Pages: 266-267

    • NAID

      130005696887

    • Data Source
      KAKENHI-PROJECT-16H05355
  • [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] 伴性遺伝性低ガンマグロブリン血症を伴うGH単独欠損症2018

    • Author(s)
      岡田 賢
    • Journal Title

      内分泌症候群(第3版)Iーその他の内分泌疾患を含めて-

      Volume: (第3版)I Pages: 73-76

    • Data Source
      KAKENHI-PROJECT-16H05355
  • [Journal Article] コルチコステロイド減量により奇異性反応を繰り返した重症結核性髄膜炎・脳結核腫2018

    • Author(s)
      野間康輔, 土居岳彦, 古森遼太, 江口勇太, 小野大地, 松村梨紗, 望月慎史, 岡田 賢, 小林正夫
    • Journal Title

      小児科学会雑誌

      Volume: 122(7) Pages: 1818-1825

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16H05355
  • [Journal Article] メンデル遺伝型マイコバクテリア易感染症2018

    • Author(s)
      浅野孝基, 岡田 賢
    • Journal Title

      小児疾患の診断治療基準

      Volume: 改訂5版 Pages: 264-265

    • Data Source
      KAKENHI-PROJECT-18KK0228
  • [Journal Article] Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection2018

    • Author(s)
      Zhang SY, Clark NE, Freije CA, Pauwels E, Taggart AJ, Okada S, Mandel H, Garcia P, Ciancanelli MJ, Biran A, Lafaille FG, Tsumura M, et al.
    • Journal Title

      Cell

      Volume: 172 Issue: 5 Pages: 952-965.e18

    • DOI

      10.1016/j.cell.2018.02.019

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17K10112, KAKENHI-PROJECT-16H05355, KAKENHI-PROJECT-16K15528
  • [Journal Article] Increased Risk for Malignancies in 131 Affected CTLA4 Mutation Carriers2018

    • Author(s)
      Egg David、Schwab Charlotte、Gabrysch Annemarie、Arkwright Peter D.、Cheesman Edmund、Giulino-Roth Lisa、Neth Olaf、Snapper Scott、Okada Satoshi、et al.
    • Journal Title

      Frontiers in Immunology

      Volume: 9 Pages: 2012-2012

    • DOI

      10.3389/fimmu.2018.02012

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16H05355
  • [Journal Article] Gain-of-function IKBKB mutation causes human combined immune deficiency2018

    • Author(s)
      Cardinez C, Miraghazadeh B, Tanita K, da Silva E, Hoshino A, Okada S, Chand R, Asano T, Tsumura M, Yoshida K, Ohnishi H, Kato Z, Yamazaki M, Okuno Y, Miyano S, Kojima S, Ogawa S, Andrews TD, Field MA, Burgio G,et al.
    • Journal Title

      J Exp Med

      Volume: 215 Issue: 11 Pages: 2715-2724

    • DOI

      10.1084/jem.20180639

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17K10099, KAKENHI-PROJECT-17K10112, KAKENHI-PROJECT-18K07840, KAKENHI-PROJECT-18KK0228, KAKENHI-PLANNED-15H05909, KAKENHI-PLANNED-15H05912, KAKENHI-PROJECT-26221308, KAKENHI-PROJECT-16H05355
  • [Journal Article] Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency2018

    • Author(s)
      Boisson Bertrand、Honda Yoshitaka、Ajiro Masahiko、Bustamante Jacinta、Bendavid Matthieu、Gennery Andrew R.、Kawasaki Yuri、Ichishima Jose、Osawa Mitsujiro、Nihira Hiroshi、Shiba Takeshi、Tanaka Takayuki、Chrabieh Maya、Bigio Benedetta、Hur Hong、Itan Yuval、Liang Yupu、Okada Satoshi、et al.
    • Journal Title

      Journal of Clinical Investigation

      Volume: 129 Issue: 2 Pages: 583-597

    • DOI

      10.1172/jci124011

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18KK0228, KAKENHI-PROJECT-15H05721, KAKENHI-PROJECT-16H05352, KAKENHI-PROJECT-16H05355, KAKENHI-PROJECT-17J08574, KAKENHI-PROJECT-19K07367
  • [Journal Article] Mendelian susceptibility to mycobacterial disease: 2014-2018 update2018

    • Author(s)
      Rosain Jeremie、Kong Xiao-Fei、Martinez-Barricarte Ruben、Oleaga-Quintas Carmen、Ramirez-Alejo Noe、Markle Janet、Okada Satoshi、et al.
    • Journal Title

      Immunology and Cell Biology

      Volume: epub Issue: 4 Pages: 360-367

    • DOI

      10.1111/imcb.12210

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18KK0228, KAKENHI-PROJECT-16H05355
  • [Journal Article] 慢性皮膚粘膜カンジダ症2017

    • Author(s)
      岡田 賢
    • Journal Title

      日本臨床免疫学会会誌

      Volume: 40 Pages: 109-117

    • NAID

      130005696887

    • Data Source
      KAKENHI-PROJECT-16H05355
  • [Journal Article] Safety and efficacy of treatment with asfotase alfa in patients with hypophosphatasia: Results from a Japanese clinical trial2017

    • Author(s)
      Kitaoka Taichi、Tajima Toshihiro、Nagasaki Keisuke、Kikuchi Toru、Yamamoto Katsusuke、Michigami Toshimi、Okada Satoshi、Fujiwara Ikuma、Kokaji Masayuki、Mochizuki Hiroshi、Ogata Tsutomu、Tatebayashi Koji、Watanabe Atsushi、Yatsuga Shuichi、Kubota Takuo、Ozono Keiichi
    • Journal Title

      Clin Endocrinol.

      Volume: 87 Issue: 1 Pages: 10-19

    • DOI

      10.1111/cen.13343

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16H05355, KAKENHI-PROJECT-16K15528
  • [Journal Article] Anti-human neutrophil antigen-1a, -1b, and -2 antibodies in neonates and children with immune neutropenias analyzed by extracted granulocyte antigen immunofluorescence assay2017

    • Author(s)
      Onodera Rie、Kurita Emi、Taniguchi Kikuyo、Karakawa Shuhei、Okada Satoshi、Kihara Hirotaka、Fujii Teruhisa、Kobayashi Masao
    • Journal Title

      Transfusion

      Volume: 57 Issue: 11 Pages: 2586-2594

    • DOI

      10.1111/trf.14291

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16H05355, KAKENHI-PROJECT-16K15528
  • [Journal Article] Molecular Mechanism and Structural Basis of Gain of Function of STAT1 Caused by Pathogenic R274Q Mutation2017

    • Author(s)
      Fujiki R, Hijikata A, Shirai T, Okada S, Kobayashi M, Ohara O
    • Journal Title

      J Biol Chem.

      Volume: 292 Issue: 15 Pages: 6240-6254

    • DOI

      10.1074/jbc.m116.753848

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-16H05355, KAKENHI-PROJECT-15K00411, KAKENHI-PROJECT-16K15528, KAKENHI-PROJECT-15K21487
  • [Journal Article] Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report2017

    • Author(s)
      Sakata Sonoko、Okada Satoshi、Aoyama Kohei、Hara Keiichi、Tani Chihiro、Kagawa Reiko、Utsunomiya-Nakamura Akari、Miyagawa Shinichiro、Ogata Tsutomu、Mizuno Haruo、Kobayashi Masao
    • Journal Title

      Frontiers in Genetics

      Volume: 8 Pages: 1-6

    • DOI

      10.3389/fgene.2017.00210

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-15K09627, KAKENHI-PROJECT-16H05355, KAKENHI-PROJECT-16K15528
  • [Journal Article] A Case with Spondyloenchondrodysplasia Treated with Growth Hormone2017

    • Author(s)
      Utsumi Takanori、Okada Satoshi、Izawa Kazushi、Honda Yoshitaka、Nishimura Gen、Nishikomori Ryuta、Okano Rika、Kobayashi Masao
    • Journal Title

      Front Endocrinol.

      Volume: 8 Pages: 157-157

    • DOI

      10.3389/fendo.2017.00157

    • NAID

      120006331972

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-16H05355, KAKENHI-PROJECT-16K15528
  • [Journal Article] Newborn screening for carnitine palmitoyltransferase II deficiency using (C16 + C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity2017

    • Author(s)
      Tajima G, Hara K, Tsumura M, Kagawa R, Okada S, Sakura N, Maruyama S, Noguchi A, Awaya T, Ishige N, Musha I, Ajihara S, Ohtake A, Naito E, Hamada Y, Kono T, Asada T, Sasaio H, Fukaoo T, Fujikip R, Ohara O, Bo R, Yamada K, Kobayashi H, Hasegawa Y, Yamaguchi S, Takayanagis M, Hata I, Shigematsu Y, Kobayashi M
    • Journal Title

      Molecular Genetics and Metabolism

      Volume: 122 Issue: 3 Pages: 67-75

    • DOI

      10.1016/j.ymgme.2017.07.011

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-15K09593, KAKENHI-PROJECT-17K10112, KAKENHI-PROJECT-16K21179, KAKENHI-PROJECT-16H05355, KAKENHI-PROJECT-16K15528
  • [Journal Article] Significant augmentation of regulatory T cell numbers occurs during the early neonatal period2017

    • Author(s)
      Hayakawa S.、Ohno N.、Okada S.、Kobayashi M.
    • Journal Title

      Clin Exp Immunol.

      Volume: 190 Issue: 2 Pages: 268-279

    • DOI

      10.1111/cei.13008

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16H05355, KAKENHI-PROJECT-16K15528
  • [Journal Article] Clinical characteristics of septo-optic dysplasia accompanied by congenital central hypothyroidism in Japan2017

    • Author(s)
      Nagasaki Keisuke、Kubota Takuo、Kobayashi Hironori、Sawada Hirotake、Numakura Chikahiko、Harada Shohei、Takasawa Kei、Minamitani Kanshi、Ishii Tomohiro、Okada Satoshi、Kamasaki Hotaka、Sugihara Shigetaka、Adachi Masanori、Tajima Toshihiro
    • Journal Title

      Clinical Pediatric Endocrinology

      Volume: 26 Issue: 4 Pages: 207-213

    • DOI

      10.1297/cpe.26.207

    • NAID

      130006105766

    • ISSN
      0918-5739, 1347-7358
    • Language
      English
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16H05355, KAKENHI-PROJECT-16K15528
  • [Journal Article] Characteristic clinical features of adipsic hypernatremia patients with subfornical organ-targeting antibody2017

    • Author(s)
      Nakamura-Utsunomiya A, Hiyama TY, Okada S, Noda M, Kobayashi M.
    • Journal Title

      Clinical Pediatric Endocrinology

      Volume: 26 Issue: 4 Pages: 197-205

    • DOI

      10.1297/cpe.26.197

    • NAID

      130006105714

    • ISSN
      0918-5739, 1347-7358
    • Language
      English
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-26293043, KAKENHI-PROJECT-16H05355, KAKENHI-PROJECT-16K15528
  • [Journal Article] A gain-of-function mutation of STAT1: A novel genetic factor contributing to chronic mucocutaneous candidiasis2017

    • Author(s)
      Eslami Narges、Tavakol Marzieh、Mesdaghi Mehrnaz、Gharegozlou Mohammad、Casanova Jean-Laurent、Puel Anne、Okada Satoshi、Arshi Saba、Bemanian Mohammad Hassan、Fallahpour Morteza、Molatefi Rasool、Seif Farhad、Zoghi Samaneh、Rezaei Nima、Nabavi Mohammad
    • Journal Title

      Acta Microbiol Immunol Hung.

      Volume: 64 Issue: 2 Pages: 191-201

    • DOI

      10.1556/030.64.2017.014

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16H05355, KAKENHI-PROJECT-16K15528
  • [Journal Article] 慢性皮膚粘膜カンジダ症2017

    • Author(s)
      岡田 賢
    • Journal Title

      日本臨床免疫学会会誌

      Volume: 40 Pages: 109-117

    • NAID

      130005696887

    • Data Source
      KAKENHI-PROJECT-16K15528
  • [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] Chronic mucocutaneous candidiasis disease associated with inborn errors of IL-17 immunity.2016

    • Author(s)
      Okada S, Puel A, Casanova JL, Kobayashi M
    • Journal Title

      Clin Transl Immunology.

      Volume: 5

    • Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16H05355
  • [Journal Article] Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency.2016

    • Author(s)
      Levy R, Okada S, Beziat V, Moriya K, Liu C, Chai LY, Migaud M, Hauck F, Al Ali A, Cyrus C, Vatte C, Patiroglu T, Unal E, Ferneiny M, Hyakuna N, Nepesov S, Oleastro M, Ikinciogullari A, Dogu F, Asano T, et al.
    • Journal Title

      Proc Natl Acad Sci USA

      Volume: 113 Issue: 51

    • DOI

      10.1073/pnas.1618300114

    • Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16H05355, KAKENHI-PROJECT-16K15528
  • [Journal Article] Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype: an international survey of 276 patients from 169 kindreds2016

    • Author(s)
      Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Aldave Becerra JC, Ouachee-Chardin M, Fouyssac F, Girisha KM, Etzioni A, Van Montfrans J, Camcioglu Y, Kerns LA, Belohradsky B, Blanche S, Bousfiha A, Rodriguez-Gallego C, Meyts I, Kisand K, Reichenbach J, et al.
    • Journal Title

      Blood

      Volume: 127 Issue: 25 Pages: 3154-64

    • DOI

      10.1182/blood-2015-11-679902

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16H05355, KAKENHI-PROJECT-26293244, KAKENHI-PROJECT-16K15528
  • [Journal Article] 1)Extrapulmonary tuberculosis mimicking Mendelian susceptibility to mycobacterial disease in a patient with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation2016

    • Author(s)
      Kataoka S, Muramatsu H, Okuno Y, Hayashi Y, Mizoguchi Y, Tsumura M, Okada S, Kobayashi M, Sano C, Sato H, Oh-Iwa I, Ito M, Kojima D Hama A, Takahashi Y, Kojima S
    • Journal Title

      J Allergy Clin Immunol

      Volume: 137 Issue: 2 Pages: 619-622

    • DOI

      10.1016/j.jaci.2015.06.028

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-PROJECT-25461159, KAKENHI-PROJECT-25713039
  • [Journal Article] Chronic mucocutaneous candidiasis disease associated with inborn errors of IL-17 immunity.2016

    • Author(s)
      Okada S, Puel A, Casanova JL, Kobayashi M
    • Journal Title

      Clin Transl Immunology.

      Volume: 5

    • Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K15528
  • [Journal Article] Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets2016

    • Author(s)
      Ma CS, Wong N, Rao G, Nguyen A, Avery DT, Payne K, Torpy J, O'Young P, Deenick E, Bustamante J, Puel A, Okada S, Kobayashi M, Martinez-Barricarte R, Elliott M, Sebnem Kilic S, El Baghdadi J, Minegishi Y, Bousfiha A, Robertson N, et al.
    • Journal Title

      J Exp Med.

      Volume: 213 Issue: 8 Pages: 1589-608

    • DOI

      10.1084/jem.20151467

    • NAID

      120006959745

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16H05355, KAKENHI-PROJECT-16H05356, KAKENHI-PROJECT-16K15529, KAKENHI-PROJECT-16K15528
  • [Journal Article] Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants2016

    • Author(s)
      Kagawa R, Fujiki R, Tsumura M, Sakata S, Nishimura S,Itan Y, Kong XF, Kato Z, Ohnishi H, Hirata O, Saito S, Ikeda M,Baghdadi JE, Bousfiha A, Fujiwara K, Oleastro M, Yancoski J,Perez L, Danielian S, Ailal F, Takada H, Hara T, Anne Puel A, Boisson-Dupuis S, Bustamante J, Casanova JL, Ohara O, Okada S, Masao Kobayashi M.
    • Journal Title

      J Allergy Clin Immunol.

      Volume: - Issue: 1 Pages: 232-241

    • DOI

      10.1016/j.jaci.2016.09.035

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-26461576, KAKENHI-PROJECT-15K21189, KAKENHI-PROJECT-16K10025, KAKENHI-PROJECT-17K10112, KAKENHI-PROJECT-16H05355, KAKENHI-PROJECT-15K09655, KAKENHI-PROJECT-16K15528
  • [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] Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections.2015

    • Author(s)
      Dobbs K, Dominguez Conde C, Zhang SY, Parolini S, Audry M, Chou J, Haapaniemi E, Keles S, Bilic I, Okada S, et al.
    • Journal Title

      N Engl J Med.

      Volume: 372 Issue: 25 Pages: 2409-22

    • DOI

      10.1056/nejmoa1413462

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-25713039
  • [Journal Article] Mosaicism of an ELANE mutation in an asymptomatic mother in a familial case of cyclic neutropenia.2015

    • Author(s)
      Hirata O, Okada S, Ttsumura M, Karakawa S, Matsumura I, Kimura Y, Mihara T, Yasunaga S, Takihara Y, Ohara O, Kobayashi M
    • Journal Title

      Journal of Clinical Immunology

      Volume: 2015 Issue: 5 Pages: 1-5

    • DOI

      10.1007/s10875-015-0165-1

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-25293231, KAKENHI-PROJECT-15K09461, KAKENHI-PROJECT-26501004, KAKENHI-PROJECT-15K21189, KAKENHI-PROJECT-26670501, KAKENHI-PROJECT-25713039
  • [Journal Article] Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome.2015

    • Author(s)
      Kreins A.Y, Ciancanelli M.J, Boisson-Dupuis S, et al.
    • Journal Title

      J Exp Med.

      Volume: 212 Issue: 10 Pages: 1641-1662

    • DOI

      10.1084/jem.20140280

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K15396, KAKENHI-PROJECT-15K15392, KAKENHI-PROJECT-25293232, KAKENHI-PROJECT-26293250, KAKENHI-PROJECT-25713039
  • [Journal Article] Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation.2015

    • Author(s)
      Zhang X, Bogunovic D, Payelle-Brogard B, Francois-Newton V, Speer SD, Yuan C, Volpi S, Li Z, Sanal O, Mansouri D, Tezcan I, Rice GI, Chen C, Mansouri N, Mahdaviani SA, Itan Y, Boisson B, Okada S, et al.
    • Journal Title

      Nature

      Volume: 517 Issue: 7532 Pages: 667-76

    • DOI

      10.1038/nature13801

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-25670477, KAKENHI-PROJECT-25713039
  • [Journal Article] DOCK2 and a Recessive Immunodeficiency with Early-Onset Invasive Infections.2015

    • Author(s)
      Dobbs K, Conde CD, Zhang SY, Parolini S, Audry M, Chou J, Haapaniemi E, Keles S, Bilic I, Okada S, et al.
    • Journal Title

      N Engl J Med

      Volume: in press

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-25713039
  • [Journal Article] Impairment of IL-17A/F immunity to Candida and IFN-γ immunity to Mycobacterium in humans with inherited RORγT deficiency.2015

    • Author(s)
      Okada S, Markle JG, Deenick EK, Federico Mele F, Averbuch D, Kobayashi M, Abel L, Cooper AM, Notarangelo LD, Boisson-Dupuis S, Puel A, Sallusto F, Bustamante J, Tangye SG, Casanova JL
    • Journal Title

      Science

      Volume: 349 Issue: 6248 Pages: 606-613

    • DOI

      10.1126/science.aaa4282

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-26670501, KAKENHI-PROJECT-25293231, KAKENHI-PROJECT-25713039
  • [Journal Article] Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies.2015

    • Author(s)
      Ma CS, Wong N, Tangye SG, et al.
    • Journal Title

      J Allergy Clin Immunol

      Volume: 136 Issue: 4 Pages: 993-1006

    • DOI

      10.1016/j.jaci.2015.05.036

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K15396, KAKENHI-PROJECT-15K15392, KAKENHI-PROJECT-26670501, KAKENHI-PROJECT-25293231, KAKENHI-PROJECT-25293232, KAKENHI-PROJECT-26293250, KAKENHI-PROJECT-25713039
  • [Journal Article] DOCK2 and a Recessive Immunodeficiency with Early-Onset Invasive Infections.2015

    • Author(s)
      Dobbs K, Conde CD, Zhang SY, Parolini S, Audry M, Chou J, Haapaniemi E, Keles S, Bilic I, Okada S, et al.
    • Journal Title

      N Engl J Med

      Volume: in press

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-25670477
  • [Journal Article] A 2-year-old Japanese girl with TNF receptor-associated periodic syndrome: A case report of the youngest diagnosed proband in Japan.2014

    • Author(s)
      Yasumura J, Wago M, Okada S, et al.
    • Journal Title

      Mod Rheumatol.

      Volume: 20 Pages: 1-4

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-25713039
  • [Journal Article] Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis.2014

    • Author(s)
      Mizoguchi Y, Tsumura M, Okada S, Hirata O, Minegishi S, Imai K, Hyakuna N, Muramatsu H, Kojima S, Ozaki Y, Imai T, Takeda S, Okazaki T, Ito T, Yasunaga S, Takihara Y, Bryant VL, Kong XF, Cypowyj S, Boisson-Dupuis S, Puel A, Casanova JL, Morio T, Kobayashi M.
    • Journal Title

      J. Leukoc. Biol.

      Volume: 95 Issue: 4 Pages: 667-76

    • DOI

      10.1189/jlb.0513250

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-23390270, KAKENHI-PROJECT-23618008, KAKENHI-PUBLICLY-25118717, KAKENHI-PUBLICLY-25130708, KAKENHI-PROJECT-25293231, KAKENHI-PROJECT-25293232, KAKENHI-PROJECT-25713039, KAKENHI-PROJECT-25870468, KAKENHI-PROJECT-26501004, KAKENHI-PROJECT-26670501, KAKENHI-PROJECT-26670502
  • [Journal Article] Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis.2014

    • Author(s)
      Mizoguchi Y, Tsumura M, Okada S, Hirata O, Minegishi S, Imai K, Hyakuna N, Muramatsu H, Kojima S, Ozaki Y, Imai T, Takeda S, Okazaki T, Ito T, Yasunaga S, Takihara Y, Bryant VL, Kong XF, Cypowyj S, Boisson-Dupuis S, Puel A, Casanova JL, Morio T, Kobayashi M.
    • Journal Title

      J Leukoc Biol.

      Volume: 95 Issue: 4 Pages: 667-76

    • DOI

      10.1038/jid.2013.480

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-25670477, KAKENHI-PROJECT-25713039
  • [Journal Article] A 2-year-old Japanese girl with TNF receptor-associated periodic syndrome: A case report of the youngest diagnosed proband in Japan.2014

    • Author(s)
      Yasumura J, Wago M, Okada S, Nishikomori R, Takei S, Kobayashi M
    • Journal Title

      Modern Rheumatology

      Volume: 20 Pages: 1-4

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-25293231
  • [Journal Article] Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency2014

    • Author(s)
      Ciancanelli MJ, Huang SX, Luthra, Garner H, Itan Y, Volpi S, Lafaille FG, Trouillet C, Schmolke M, Albrecht RA, Israelsson E, Lim HK, Casadio M, Hermesh T, Lorenzo L, Leung LW, Pedergnana V, Boisson B, Okada S, et al.
    • Journal Title

      Science

      Volume: Epub Issue: 6233 Pages: 448-53

    • DOI

      10.1126/science.aaa1578

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-25670477, KAKENHI-PROJECT-25713039
  • [Journal Article] A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease.2013

    • Author(s)
      Kong XF, Bousfiha A, Rouissi A, Itan Y, Abhyankar A, Bryant V, Okada S, Ailal F, Bustamante J, Casanova JL, Hirst J, Boisson-Dupuis S.
    • Journal Title

      PLoS One

      Volume: 8 Issue: 3 Pages: e58286-e58286

    • DOI

      10.1371/journal.pone.0058286

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-25670477, KAKENHI-PROJECT-25713039
  • [Journal Article] New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe.2013

    • Author(s)
      Soltesz B, Toth B, Shabashova N, Bondarenko A, Okada S, Cypowyj S, Abhyankar A, Csorba G, Tasko S, Sarkadi AK, Mehes L, Rozsival P, Neumann D, Chernyshova L, Tulassay Z, Puel A, Casanova JL, Sediva A, Litzman J, Marodi L.
    • Journal Title

      J Med Genet.

      Volume: 50 Issue: 9 Pages: 567-78

    • DOI

      10.1136/jmedgenet-2013-101570

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-25670477, KAKENHI-PROJECT-25713039
  • [Journal Article] Age-dependent association between pulmonary tuberculosis and common TOX variants in the 8q12-13 linkage region.2013

    • Author(s)
      Grant AV, El Baghdadi J, Sabri A, El Azbaoui S, Alaoui-Tahiri K, Abderrahmani Rhorfi I, Gharbaoui Y, Abid A, Benkirane M, Raharimanga V, Richard V, Orlova M, Boland A, Migaud M, Okada S, et al.
    • Journal Title

      Am J Hum Genet.

      Volume: 92 Issue: 3 Pages: 407-14

    • DOI

      10.1016/j.ajhg.2013.01.013

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-25670477, KAKENHI-PROJECT-25713039
  • [Journal Article] Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis2013

    • Author(s)
      Hirata, O.
    • Journal Title

      Haematologica

      Volume: 98 Issue: 10 Pages: 1641-1649

    • DOI

      10.3324/haematol.2013.083741

    • Peer Reviewed
    • Data Source
      KAKENHI-PUBLICLY-25118717, KAKENHI-PROJECT-25293231, KAKENHI-PROJECT-25670477, KAKENHI-PROJECT-25713039, KAKENHI-PROJECT-25870468
  • [Journal Article] Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation.2013

    • Author(s)
      Moncada-Velez M, Martinez-Barricarte R, Bogunovic D, Kong XF, Blancas-Galicia L, Tirpan C, Aksu G, Vincent QB, Boisson B, Itan Y, Ramirez-Alejo N, Okada S, et. al.
    • Journal Title

      Blood

      Volume: 122 Issue: 14 Pages: 2390-401

    • DOI

      10.1182/blood-2013-01-480814

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-25670477, KAKENHI-PROJECT-25713039
  • [Journal Article] Identification of the integrin B3 L718P mutation in a pedigree with autosomal dominant thrombocytopenia with anisocytosis2012

    • Author(s)
      Kobayashi Y
    • Journal Title

      British Journal of Haematology

      Volume: 31 Issue: 4 Pages: 762-772

    • DOI

      10.1111/bjh.12160

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22591161, KAKENHI-PROJECT-23591429, KAKENHI-PROJECT-25293231
  • [Journal Article] Clinical characteristics of perinatal lethal hypophosphatasia: A report of 6 cases2010

    • Author(s)
      Nakamura-Utsunomiya A, Okada S, Hara K, Miyagawa S, Takeda K, Fukuhara R, Nakata Y, Hayashidani M, Tachikawa K, Michigami T, Ozono K, Kobayashi M
    • Journal Title

      Clinical Pediatric Endocrinology (in press)

    • NAID

      10031199603

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20790731
  • [Journal Article] Clinical characteristics of perinatal lethal hypophosphatasia : A report of 6 cases.2010

    • Author(s)
      Nakamura-Utsunomiya A, Okada S, et al.
    • Journal Title

      Clinical Pediatric Endocrinology (in press)

    • NAID

      10031199603

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20790731
  • [Journal Article] Cardiac infiltration in early-onset sarcoidosis associated with a novel heterozygous mutation, G481D, in CARD152009

    • Author(s)
      Okada S, et al.
    • Journal Title

      Rheumatology. 48

      Pages: 706-707

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20790731
  • [Journal Article] Cardiac infiltration in early-onset sarcoidosis associated with a novel heterozygous mutation2009

    • Author(s)
      Okada S, Konishi N, Tsumura M, Shirao K, Yasunaga S, Sakai H, Nishikomori R, Takihara Y, Kobayashi M
    • Journal Title

      Rheumatology 48

      Pages: 706-707

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20790731
  • [Journal Article] 新規ETHE1遺伝子変異を認めたエチルマロン酸脳症の1例2009

    • Author(s)
      大坪善数, 白尾謙一郎, 岡田賢, 但馬剛, 佐倉伸夫, 楠本隆, 青木幹弘, 中下誠郎
    • Journal Title

      小児科学会雑誌 113

      Pages: 739-744

    • NAID

      10024843325

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20790731
  • [Journal Article] 新規ETHE1遺伝子異を認めたエチルマロン酸脳症の1例2009

    • Author(s)
      大坪善数, 白尾謙一郎, 岡田賢, 他
    • Journal Title

      小児科学会雑誌 113

      Pages: 739-744

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20790731
  • [Journal Article] 重症先天性好中球減少症の分子病態2009

    • Author(s)
      小林正夫, 岡田賢, 溝口洋子
    • Journal Title

      分子細胞治療 8

      Pages: 110-116

    • Data Source
      KAKENHI-PROJECT-20790731
  • [Journal Article] 先天性好中球減少症2009

    • Author(s)
      岡田賢, 石川暢恒, 小林正夫
    • Journal Title

      小児科 50

      Pages: 1146-1151

    • Data Source
      KAKENHI-PROJECT-20790731
  • [Journal Article] 先天性好中球減少症2009

    • Author(s)
      岡田賢, 他
    • Journal Title

      小児科 50

      Pages: 1146-1151

    • Data Source
      KAKENHI-PROJECT-20790731
  • [Journal Article] Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene2008

    • Author(s)
      Ishikawa N, Okada S (equally contributed), Miki M, Shirao K, Kihara H, Tsumura M, Nakamura K, Kawaguchi H, Ohtsubo M, Yasunaga S, Matsubara K, Sako M, Hara J, Shiohara M, Kojima S, Takihara Y, Kobayashi M
    • Journal Title

      J Med Genet 45

      Pages: 802-807

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20790731
  • [Journal Article] Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene2008

    • Author(s)
      Ishikawa N, Okada S, et.al.
    • Journal Title

      J. Med. Genet. 45

      Pages: 802-807

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20790731
  • [Journal Article] Polycomb-group complex 1 acts as an E3 ubiquitin ligase for Geminin to sustain hematopoietic stem cell activity2008

    • Author(s)
      Ohtsubo M, Yasunaga S, Ohno Y, Tsumura M, Okada S, Ishikawa N, Shirao K, Kikuchi A, Nishitani H, Kobayashi M, Takihara Y
    • Journal Title

      Proc Natl Acad Sci USA 105

      Pages: 10396-10401

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20790731
  • [Journal Article] 非結核性抗酸菌による多発性骨髄炎を呈したインターフェロンγ受容体1異常症の2例2008

    • Author(s)
      岡田賢, 他
    • Journal Title

      小児科学会雑誌 112

      Pages: 1818-1825

    • NAID

      10024842949

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20790731
  • [Journal Article] Development of a new enzymatic diagnosis method for very-long-chain acyl-CoA dehydrogenase deficiency by detecting 2-hexadecenoyl-CoA production and its application in tandem mass spectrometry-based selective screening and newborn screening in Japan2008

    • Author(s)
      Tajima G, Sakura N, Shirao K, Okada S, et.al.
    • Journal Title

      Pediatr Res. 64

      Pages: 667-672

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20790731
  • [Journal Article] 好中球異常による先天性免疫不全症2008

    • Author(s)
      岡田賢, 他
    • Journal Title

      小児科臨床 61

      Pages: 1791-1797

    • Data Source
      KAKENHI-PROJECT-20790731
  • [Journal Article] 慢性肉芽腫症と他の好中球殺菌能異常2008

    • Author(s)
      岡田賢, 他
    • Journal Title

      小児内科増刊号 40

      Pages: 1336-1347

    • Data Source
      KAKENHI-PROJECT-20790731
  • [Journal Article] 非結核性抗酸菌による多発性骨髄炎を呈したインターフェロンγ受容体1異常症の2例2008

    • Author(s)
      岡田賢, 末永麻由美, 川口浩史, 小林正夫
    • Journal Title

      小児科学会雑誌 112

      Pages: 1818-1825

    • NAID

      10024842949

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20790731
  • [Journal Article] 慢性肉芽腫症と他の好中球殺菌能異常2008

    • Author(s)
      岡田賢, 水上智之, 布井博幸, 小林正夫
    • Journal Title

      小児内科増刊号 40

      Pages: 1336-1347

    • Data Source
      KAKENHI-PROJECT-20790731
  • [Journal Article] 好中球異常による先天性免疫不全症2008

    • Author(s)
      岡田賢, 津村弥来, 小林正夫
    • Journal Title

      小児科臨床 61

      Pages: 1791-1797

    • Data Source
      KAKENHI-PROJECT-20790731
  • [Journal Article] Development of a new enzymatic diagnosis method for very-long-chain acyl-CoA dehydrogenase deficiency by detecting 2-hexadecenoyl-CoA production and its application in tandem mass spectrometry-based selective screening and newborn screening in Japan2008

    • Author(s)
      Tajima G, Sakura N, Shirao K, Okada S, Tsumura M, Nishimura Y, Ono H, Hasegawa Y, Hata I, Naito E, Yamaguchi S, Shigematsu Y, Kobayashi M
    • Journal Title

      Pediatr Res 64

      Pages: 667-672

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20790731
  • [Presentation] PIDJ の仕組みと遺伝子検査の出し方2024

    • Author(s)
      岡田 賢
    • Organizer
      JSIAD-APSID joint meeting
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-22KK0113
  • [Presentation] PIDJ の仕組みと遺伝子検査の出し方2024

    • Author(s)
      岡田 賢
    • Organizer
      JSIAD-APSID joint meeting
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-23K24302
  • [Presentation] 疾患や治療により身体機能・体力低下が生じた小児がん経験児の復学における困難とニーズ調査2024

    • Author(s)
      加藤豊、武澤友宏、岡田賢、祖父江育子
    • Organizer
      第21回日本小児がん看護学会学術集会
    • Data Source
      KAKENHI-PROJECT-23K10154
  • [Presentation] Mendelian susceptibility to mycobacterial diseases2023

    • Author(s)
      Satoshi Okada
    • Organizer
      NTM Host Research Consortium International Workshop
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-23K24302
  • [Presentation] 宿主免疫異常によるCOVID-19重症化2023

    • Author(s)
      岡田 賢
    • Organizer
      第55回 日本小児感染症学会総会・学術集会
    • Invited
    • Data Source
      KAKENHI-PROJECT-23K24302
  • [Presentation] 網羅的機能評価に基づくRELAナンセンス変異の病的意義の法則性の発見2023

    • Author(s)
      早川博子、津村弥来、浅野孝基、仁平寛士、井澤和司、Isabelle Meyts、岡田賢
    • Organizer
      第7回日本免疫不全・自己炎症学会学術集会・第5回APSID学術集会
    • Data Source
      KAKENHI-PROJECT-23K07268
  • [Presentation] Severe COVID-19 associate with impaired host immunity2023

    • Author(s)
      Satoshi Okada
    • Organizer
      Human Genetics Asia 2023
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-23K24302
  • [Presentation] Mendelian susceptibility to mycobacterial diseases2023

    • Author(s)
      Satoshi Okada
    • Organizer
      NTM Host Research Consortium International Workshop
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-22KK0113
  • [Presentation] 新生児マススクリーニング検査で同定されたRORγT欠損症2023

    • Author(s)
      西村豊樹、黒木陽太、徳永成将、山元綾子、津村弥来、岡田賢、盛武浩
    • Organizer
      第7回日本免疫不全・自己炎症学会学術集会・第5回APSID学術集会
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20K08158
  • [Presentation] Defective type I interferon in severe COVID-192023

    • Author(s)
      Satoshi Okada
    • Organizer
      JSPSAAE
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-22KK0113
  • [Presentation] 網羅的機能評価に基づくRELAナンセンス変異の病的意義の法則性の発見2023

    • Author(s)
      早川博子、津村弥来、浅野孝基、仁平寛士、井澤和司、Isabelle Meyts、岡田賢
    • Organizer
      第7回日本免疫不全・自己炎症学会学術集会・第5回APSID学術集会
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20K08158
  • [Presentation] TCF3 E555K変異の分子病態と特殊性に対する検証2023

    • Author(s)
      内海孝法、浅野孝基、津村弥来、八代将登、 加藤善一郎、大西秀典、金兼弘和、岡田賢
    • Organizer
      第7回日本免疫不全・自己炎症学会学術集会・第5回APSID学術集会
    • Data Source
      KAKENHI-PROJECT-23K07268
  • [Presentation] 宿主免疫異常によるCOVID-19重症化2023

    • Author(s)
      岡田 賢
    • Organizer
      第55回 日本小児感染症学会総会・学術集会
    • Invited
    • Data Source
      KAKENHI-PROJECT-22KK0113
  • [Presentation] 新生児マススクリーニング検査で同定されたRORγT欠損症2023

    • Author(s)
      西村豊樹、黒木陽太、徳永成将、山元綾子、津村弥来、岡田賢、盛武浩
    • Organizer
      第7回日本免疫不全・自己炎症学会学術集会・第5回APSID学術集会
    • Data Source
      KAKENHI-PROJECT-23K07268
  • [Presentation] Defective type I interferon in severe COVID-192023

    • Author(s)
      Satoshi Okada
    • Organizer
      JSPSAAE
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-23K24302
  • [Presentation] TCF3 E555K変異の分子病態と特殊性に対する検証2023

    • Author(s)
      内海孝法、浅野孝基、津村弥来、八代将登、 加藤善一郎、大西秀典、金兼弘和、岡田賢
    • Organizer
      第7回日本免疫不全・自己炎症学会学術集会・第5回APSID学術集会
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20K08158
  • [Presentation] Severe COVID-19 associate with impaired host immunity2023

    • Author(s)
      Satoshi Okada
    • Organizer
      Human Genetics Asia 2023
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-22KK0113
  • [Presentation] 本邦におけるI型インターフェロンに対する自己抗体とCOVID-19重症化の関連性の検討2022

    • Author(s)
      江藤昌平、津村弥来、永島慎太郎、Paul Bastard、岡本圭祐、鹿島田健一、遠藤明史、溝口洋子、田中純子、中釜 悠、城戸康年、貫井陽子、今井耕輔、金兼弘和、小原 收、森尾友宏、Jean-Laurent Casanova、岡田 賢
    • Organizer
      第50回日本臨床免疫学会総会
    • Data Source
      KAKENHI-PROJECT-20K08158
  • [Presentation] IL17RC新規重複変異による慢性粘膜皮膚カンジダ症2022

    • Author(s)
      野間 康輔、津村 弥来、浅野 孝基、溝口 洋子、荘司 貴代、岡田 賢
    • Organizer
      第6回日本免疫不全・自己炎症学会総会・学術集会
    • Data Source
      KAKENHI-PROJECT-20K08158
  • [Presentation] 宿主免疫の異常による様々な病態2022

    • Author(s)
      岡田 賢
    • Organizer
      第55回 日本内分泌学会学術集会
    • Invited
    • Data Source
      KAKENHI-PROJECT-22KK0113
  • [Presentation] 感染症と戦う宿主免疫 ~新型コロナウイルス感染症を中心に~2022

    • Author(s)
      岡田 賢
    • Organizer
      第33回日本小児科医会総会フォーラム
    • Invited
    • Data Source
      KAKENHI-PROJECT-23K24302
  • [Presentation] COVID-19重症化とI型インターフェロン中和抗体の保有状況との関連性の検討2022

    • Author(s)
      江藤 昌平、津村 弥来、永島 慎太郎、Paul Bastard、岡本 圭祐、鹿島田 健一、遠藤 明史、溝口 洋子、田中 純子、中釜 悠、城戸 康年、貫井 陽子、今井 耕輔、金兼 弘和、森尾 友宏、Casanova Jean-Laurent、岡田 賢
    • Organizer
      第125回日本小児科学会学術集会
    • Data Source
      KAKENHI-PROJECT-20K08158
  • [Presentation] Chronic mucocutaneous candidiasis disease due to a novel duplication mutation of IL17RC2022

    • Author(s)
      Kosuke Noma, Miyuki Tsumura, Takaki Asano, Yoko Mizoguchi, Takayo Shoji, Satoshi Okada
    • Organizer
      20th Biennial Meeting of the European Society for Immunodeficiencies
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20K08158
  • [Presentation] 本邦初の常染色体顕性IL6ST 異常症の2症例の同定と分子病態の解明2022

    • Author(s)
      芦原 康介、浅野 孝基、野間 康輔、津村 弥来、豊福 悦史、関根 朗雅、今井 耕輔、岡田 賢
    • Organizer
      第6回日本免疫不全・自己炎症学会総会・学術集会
    • Data Source
      KAKENHI-PROJECT-20K08158
  • [Presentation] 原発性免疫不全症とウイルス感染 ~新型コロナウイルスと宿主免疫~2022

    • Author(s)
      岡田 賢
    • Organizer
      第5回 日本免疫不全・自己炎症学会総会・学術集会
    • Invited
    • Data Source
      KAKENHI-PROJECT-19H03620
  • [Presentation] 感染症と戦う宿主免疫 ~新型コロナウイルス感染症を中心に~2022

    • Author(s)
      岡田 賢
    • Organizer
      第33回日本小児科医会総会フォーラム
    • Invited
    • Data Source
      KAKENHI-PROJECT-22KK0113
  • [Presentation] 宿主免疫の異常による様々な病態2022

    • Author(s)
      岡田 賢
    • Organizer
      第55回 日本内分泌学会学術集会
    • Invited
    • Data Source
      KAKENHI-PROJECT-23K24302
  • [Presentation] 本邦におけるCOVID-19重症度別Ⅰ型インターフェロン中和抗体保有状況の算出およびCOVID-19重症化スクリーニングの検討2022

    • Author(s)
      江藤 昌平、津村 弥来、永島 慎太郎、Paul Bastard、岡本 圭祐、鹿島田 健一、遠藤 明史、溝口 洋子、田中 純子、中釜 悠、城戸 康年、貫井 陽子、今井 耕輔、金兼 弘和、森尾 友宏、Jean-Laurent Casanova、岡田 賢
    • Organizer
      第5回日本免疫不全・自己炎症学会
    • Data Source
      KAKENHI-PROJECT-20K08158
  • [Presentation] メンデル遺伝型マイコバクテリア易感染症における多発性骨髄炎の発症メカニズムの解明2022

    • Author(s)
      津村弥来、三木瑞香、溝口洋子、早川誠一、岡田賢
    • Organizer
      第5回日本免疫不全・自己炎症学会
    • Data Source
      KAKENHI-PROJECT-20K08158
  • [Presentation] 中枢神経症状を呈する原発性免疫不全症2021

    • Author(s)
      岡田 賢
    • Organizer
      第4回 日本免疫不全・自己炎症学会総会・学術集会
    • Invited
    • Data Source
      KAKENHI-PROJECT-18KK0228
  • [Presentation] 新型コロナウイルス感染症の重症化と宿主因子2021

    • Author(s)
      岡田 賢
    • Organizer
      第53回 日本小児感染症学会総会・学術集会
    • Invited
    • Data Source
      KAKENHI-PROJECT-19H03620
  • [Presentation] 免疫不全症2021

    • Author(s)
      岡田 賢
    • Organizer
      日本小児血液がん学会・教育セミナー
    • Invited
    • Data Source
      KAKENHI-PROJECT-19H03620
  • [Presentation] RelAの優性阻害変異により,自己炎症や自己免疫疾患をきたす2021

    • Author(s)
      森谷 邦彦, 中野 智太, 本田 吉孝, 園田 素史, 津村 弥来, 内田 崇, 石村 匡崇, 井澤 和司, 角田 文彦, 虻川 大樹, 八角 高裕, 岡田 賢, 大賀 正一, 笹原 洋二, 呉 繁夫
    • Organizer
      第125回 日本小児科学会学術集会
    • Data Source
      KAKENHI-PROJECT-20K08158
  • [Presentation] Augmentation of osteoclast formation and its function in patients with MSMD due to impaired to IFN-γ2021

    • Author(s)
      Miyuki Tsumura、Mizuka Miki、Yoko Mizoguchi、Reiko Kagawa、Seiichi Hayakawa、Satoshi Okada
    • Organizer
      European Society for Immunodeficiencies2021
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20K08158
  • [Presentation] 中枢神経症状を呈する原発性免疫不全症2021

    • Author(s)
      岡田 賢
    • Organizer
      第4回 日本免疫不全・自己炎症学会総会・学術集会
    • Invited
    • Data Source
      KAKENHI-PROJECT-19H03620
  • [Presentation] 内分泌障害を合併する原発性免疫不全症2021

    • Author(s)
      岡田 賢
    • Organizer
      第54回 日本小児内分泌学会学術集会
    • Invited
    • Data Source
      KAKENHI-PROJECT-19H03620
  • [Presentation] 宿主免疫の異常と内分泌障害2021

    • Author(s)
      岡田 賢
    • Organizer
      第31回 臨床内分泌代謝Update
    • Invited
    • Data Source
      KAKENHI-PROJECT-19H03620
  • [Presentation] リンパ増殖性疾患と原発性免疫不全2020

    • Author(s)
      岡田 賢
    • Organizer
      第82回 日本血液学会学術集会
    • Invited
    • Data Source
      KAKENHI-PROJECT-19H03620
  • [Presentation] 原発性免疫不全症とウイルス感染症2020

    • Author(s)
      岡田 賢
    • Organizer
      第82回 日本血液学会学術集会
    • Data Source
      KAKENHI-PROJECT-18KK0228
  • [Presentation] 新型コロナウイルス感染と宿主免疫2020

    • Author(s)
      岡田 賢
    • Organizer
      第48回日本臨床免疫学会総会
    • Invited
    • Data Source
      KAKENHI-PROJECT-19H03620
  • [Presentation] CARD9 deficiency in a patient with invasive infection due to Exophiala dermatitidis and the aymptomatic siblings2020

    • Author(s)
      Yusuke Imanakal, Maki Taniguchil, Takehiko Doi, Maiko Shimomura, Miyuki Tsumura, Shuhei Karakawa, Kohsuke Imai, Tomohiro Morio, Anne Puel, Jean-Laurent Casanova, Osamu Ohara, Katsuhiko Kamei, Masao Kobayashi, Satoshi Okada
    • Organizer
      19th biennial meeting of The European Society for Immunodeficiencies
    • Data Source
      KAKENHI-PROJECT-20K08158
  • [Presentation] 新型コロナウイルス感染と宿主免疫2020

    • Author(s)
      岡田 賢
    • Organizer
      第48回日本臨床免疫学会総会
    • Invited
    • Data Source
      KAKENHI-PROJECT-18KK0228
  • [Presentation] A case of RUNX1-associated platelet disorder treated with BMT before onset of myeloid malignancy2020

    • Author(s)
      Maiko Shimomura,Takehiko Doi,Shouhei Yamaoka,Risa Matsumura,Miyuki Tsumura,Shuhei Karakawa,Shinji Mochizuki,Hiroshi Kawaguchi,Satoshi Okada
    • Organizer
      第62回日本小児血液・がん学会学術集会
    • Data Source
      KAKENHI-PROJECT-20K08158
  • [Presentation] リンパ増殖性疾患と原発性免疫不全2020

    • Author(s)
      岡田 賢
    • Organizer
      第82回 日本血液学会学術集会
    • Invited
    • Data Source
      KAKENHI-PROJECT-18KK0228
  • [Presentation] 成人期における原発性免疫不全症2020

    • Author(s)
      岡田 賢
    • Organizer
      第48回日本臨床免疫学会総会
    • Data Source
      KAKENHI-PROJECT-18KK0228
  • [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-17K10112
  • [Presentation] 原発性免疫不全症とウイルス感染症2020

    • Author(s)
      岡田 賢
    • Organizer
      第82回 日本血液学会学術集会
    • Data Source
      KAKENHI-PROJECT-19H03620
  • [Presentation] 成人期における原発性免疫不全症2020

    • Author(s)
      岡田 賢
    • Organizer
      第48回日本臨床免疫学会総会
    • Data Source
      KAKENHI-PROJECT-19H03620
  • [Presentation] 免疫疾患の遺伝的背景2020

    • Author(s)
      岡田 賢
    • Organizer
      第48回日本臨床免疫学会総会
    • Invited
    • Data Source
      KAKENHI-PROJECT-19H03620
  • [Presentation] 免疫疾患の遺伝的背景2020

    • Author(s)
      岡田 賢
    • Organizer
      第48回日本臨床免疫学会総会
    • Invited
    • Data Source
      KAKENHI-PROJECT-18KK0228
  • [Presentation] アンチセンス核酸によるG6PC高頻度スプライシング変異の発現修復2019

    • Author(s)
      但馬 剛、津村 弥来、岡田 賢、小比賀 聡
    • Organizer
      第122回日本小児科学会学術集会
    • Data Source
      KAKENHI-PROJECT-17K10112
  • [Presentation] 反復する風邪, 重症インフルエンザ感染症・・・:免疫不全症ではないですか?2019

    • Author(s)
      岡田 賢
    • Organizer
      日本小児科学会学術集会
    • Invited
    • Data Source
      KAKENHI-PROJECT-18KK0228
  • [Presentation] 当院で経験した完全型アンドロゲン受容体異常症の5例2019

    • Author(s)
      岡田 賢, 坂田園子, 香川礼子, 宇都宮朱里, 兵頭麻希, 神野和彦, 小林正夫
    • Organizer
      日本内分泌学会学術総会
    • Data Source
      KAKENHI-PROJECT-18KK0228
  • [Presentation] 全国施行が実現したCPT2欠損症マススクリーニングの現状報告2019

    • Author(s)
      但馬 剛、原 圭一、香川 礼子、宇都宮 朱里、津村 弥来、岡田 賢、湯浅 光織、畑 郁江、重松 陽介、山口 清次
    • Organizer
      第122回日本小児科学会学術集会
    • Data Source
      KAKENHI-PROJECT-17K10112
  • [Presentation] 当院で経験した完全型アンドロゲン受容体異常症の5例2019

    • Author(s)
      岡田 賢, 坂田園子, 香川礼子, 宇都宮朱里, 兵頭麻希, 神野和彦, 小林正夫
    • Organizer
      日本内分泌学会学術総会
    • Data Source
      KAKENHI-PROJECT-19H03620
  • [Presentation] Primary immunodeficiency caused by gain-of-function mutations in STAT12019

    • Author(s)
      Satoshi Okada
    • Organizer
      Infectious Diseases Society of Taiwan
    • Invited
    • Data Source
      KAKENHI-PROJECT-19H03620
  • [Presentation] ELANE変異アレル破壊による遺伝子治療の検討2019

    • Author(s)
      岡田 賢
    • Organizer
      日本小児科学会学術集会
    • Data Source
      KAKENHI-PROJECT-18KK0228
  • [Presentation] ELANE変異アレル破壊による遺伝子治療の検討2019

    • Author(s)
      岡田 賢
    • Organizer
      日本小児科学会学術集会
    • Data Source
      KAKENHI-PROJECT-19H03620
  • [Presentation] Exophiala dermatitidisによる全身性黒色真菌感染症を発症したCARD9欠損症の一例2019

    • Author(s)
      今中雄介、岡田賢、長岡里枝、谷口真紀、下村麻衣子、津村弥来、唐川修平、土居岳彦、小林正夫
    • Organizer
      第47回日本臨床免疫学会総会
    • Data Source
      KAKENHI-PROJECT-17K10112
  • [Presentation] ELANE変異アレル破壊による遺伝子治療の検討2019

    • Author(s)
      岡田賢、今中雄介、津村弥来、落合博、中田慎一郎、小原收、山本卓、小林正夫
    • Organizer
      第122回日本小児科学会学術集会
    • Data Source
      KAKENHI-PROJECT-17K10112
  • [Presentation] A mouse model of human disease caused by gain-of-function STAT1 mutation2019

    • Author(s)
      Moe Tamaura, Naoko Satoh-Takayama, Miyuki Tsumura, Takaharu Sasaki, Satoshi Goda, Tomoko Kageyama, Seiichi Hayakawa, Shunsuke Kimura, Takaki Asano, Manabu Nakayama, Haruhiko Koseki, Osamu Ohara, Satoshi Okada, Hiroshi Ohno , Masao Kobayashi
    • Organizer
      The 2019 Focused Meeting og the European Society for Immunodeficiencies
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17K10112
  • [Presentation] 標識脂肪酸負荷末梢血単核球中のアシルカルニチン比による脂肪酸代謝異常症の診断2019

    • Author(s)
      湯浅 光織、畑 郁江、杉原 啓一、磯崎 由宇子、重松 陽介、大嶋 勇成、津村 弥来、香川 礼子、岡田 賢、原 圭一、但馬 剛
    • Organizer
      第122回日本小児科学会学術集会
    • Data Source
      KAKENHI-PROJECT-17K10112
  • [Presentation] ELANE変異アレル破壊による遺伝子治療の検討2019

    • Author(s)
      岡田 賢、今中 雄介、津村 弥来、落合 博、中田 慎一郎、小原 收、山本 卓、小林 正夫
    • Organizer
      第122回日本小児科学会学術集会
    • Data Source
      KAKENHI-PROJECT-17K10112
  • [Presentation] A mouse model of human disease caused by gain-of-function STAT1 mutation2019

    • Author(s)
      Moe Tamaura,Naoko Satoh,Miyuki Tsumura,Takaharu Sasaki, Shunsuke Kimura,Tomoko Kageyama,Seiichi Hayakawa, Takaki Asano,Satoshi Goda,Manabu Nakayama,Haruhiko Koseki, Osamu Ohara,Satoshi Okada,Hiroshi Ohno,Masao Kobayashi
    • Organizer
      第81回日本血液学会学術集会
    • Data Source
      KAKENHI-PROJECT-17K10112
  • [Presentation] Gain-of-function IKBKB mutation causes human combined immune deficiency2019

    • Author(s)
      K. Tanita, C Cardinez, B. Miraghanzadeh, A. Hoshino, S. Okada, T. Asano, M. Tsumura, H. Ohnishi, Z. Kato, T. Morio, C.G. Vinuesa, H. Kanegane, M.C. Cook
    • Organizer
      第2回日本免疫不全・自己炎症学会
    • Data Source
      KAKENHI-PROJECT-17K10112
  • [Presentation] The first intronic mutations which caused autosomal recessive complete STAT1 deficiency2019

    • Author(s)
      Sonoko Sakata,Satoshi Okada,Tadashi Matsubayashi,Moe Tamaura,Miyuki Tsumura,Tsubasa Okano,Kosuke Imai, Jacinta Bustamante,Tomohiro Morio,Jean-Laurent Casanova, Masao Kobayashi
    • Organizer
      The 2019 Focused Meeting og the European Society for Immunodeficiencies
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17K10112
  • [Presentation] Primary immunodeficiency caused by gain-of-function mutations in STAT12019

    • Author(s)
      Satoshi Okada
    • Organizer
      Infectious Diseases Society of Taiwan
    • Invited
    • Data Source
      KAKENHI-PROJECT-18KK0228
  • [Presentation] 原発性免疫不全症患者の分子学的診断2019

    • Author(s)
      岡田 賢
    • Organizer
      第2回日本免疫不全・自己炎症学会総会
    • Invited
    • Data Source
      KAKENHI-PROJECT-16H05355
  • [Presentation] 反復する風邪, 重症インフルエンザ感染症・・・:免疫不全症ではないですか?2019

    • Author(s)
      岡田 賢
    • Organizer
      日本小児科学会学術集会
    • Invited
    • Data Source
      KAKENHI-PROJECT-19H03620
  • [Presentation] 原発性免疫不全症患者の分子学的診断2019

    • Author(s)
      岡田 賢
    • Organizer
      第2回日本免疫不全・自己炎症学会総会
    • Invited
    • Data Source
      KAKENHI-PROJECT-18KK0228
  • [Presentation] IKBKB機能獲得変異による新奇遅発発症複合免疫不全症2018

    • Author(s)
      谷田 けい、星野 顕宏、岡田 賢、浅野 孝基、津村 弥来、大西 秀典、加藤 善一郎、山崎 雅英、森尾 友宏、金兼 弘和
    • Organizer
      第46回日本臨床免疫学会
    • Data Source
      KAKENHI-PROJECT-17K10112
  • [Presentation] STAT1 gain of function etiology, molecular biology, and treatment2018

    • Author(s)
      Satoshi Okada
    • Organizer
      The 2nd APSID Scientific Congress
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16H05355
  • [Presentation] 未来を担う若手への『研究』のススメ2018

    • Author(s)
      岡田 賢
    • Organizer
      第46回 日本臨床免疫学会総会
    • Invited
    • Data Source
      KAKENHI-PROJECT-16H05355
  • [Presentation] アンチセンス核酸によるG6PCスプライシング変異c.648G>Tの発現修復2018

    • Author(s)
      但馬 剛、岡田 賢、津村 弥来
    • Organizer
      第60回日本先天代謝異常学会
    • Data Source
      KAKENHI-PROJECT-17K10112
  • [Presentation] HSCT in Patients with STAT1 Gain-of-function Mutation2018

    • Author(s)
      Satoshi Okada
    • Organizer
      2018 the Korean Society of Pediatric Hematology-Oncology Autumn Meeting
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16H05355
  • [Presentation] CPT2欠損症スクリーニング新指標の有用性 最近の診断例を加えた検討2018

    • Author(s)
      但馬 剛、原 圭一、香川 礼子、津村 弥来、岡田 賢、湯浅 光織、畑 郁江、重松 陽介、山口 清次
    • Organizer
      第45回日本マス・スクリーニング学会学術集会
    • Data Source
      KAKENHI-PROJECT-17K10112
  • [Presentation] Anti-Methyl-D-Aspartate Receptor Encephalitis Associated with IRAK4 Deficiency2018

    • Author(s)
      T. Asano, S. Nishimura, Y. Kobayashi, M. Tsumura, N. Ishikawa, H. Ohnishi, H. Takada, V. Sancho-Shimizu, K. Moriya, A. Puel, C. Picard, S.R. Irani, J.L. Casanova, S. Okada, M. Kobayashi
    • Organizer
      18th European Society for Immunodeficiencies
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17K10112
  • [Presentation] MSMD update2018

    • Author(s)
      岡田 賢
    • Organizer
      第60回 日本小児血液・がん学会
    • Invited
    • Data Source
      KAKENHI-PROJECT-16H05355
  • [Presentation] 抗N-methyl-D-aspartate(NMDA)受容体脳炎を契機に診断に至ったIRAK4欠損症2018

    • Author(s)
      浅野 孝基、西村 志帆、小林 良行、津村 弥来、石川 暢恒、大西 秀典、高田 英俊、Sancho-Shimizu Vanessa、森谷 邦彦、Puel Anne、Picard Capucine、Irani Sarosh R.、Casanova Jean-Laurent、岡田 賢、小林 正夫
    • Organizer
      第46回日本臨床免疫学会
    • Data Source
      KAKENHI-PROJECT-17K10112
  • [Presentation] HSCT in Patients with STAT1 Gain-of-function Mutation2018

    • Author(s)
      Satoshi Okada
    • Organizer
      2018 the Korean Society of Pediatric Hematology-Oncology Autumn Meeting
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18KK0228
  • [Presentation] STAT1機能獲得型変異による原発性免疫不全症2018

    • Author(s)
      岡田 賢
    • Organizer
      第1 回日本免疫不全・自己炎症学会総会・学術集会
    • Invited
    • Data Source
      KAKENHI-PROJECT-16K15528
  • [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幹細胞移植の有効性と問題点の検討2018

    • Author(s)
      岡田 賢, Jennifer W. Leiding, Troy R. Torgerson, 今井耕輔, 井口晶裕, 有賀 正, 小林正夫
    • Organizer
      第40回 日本造血細胞移植学会総会
    • Data Source
      KAKENHI-PROJECT-16K15528
  • [Presentation] 新指標(C16+C18:1)/C2 & C14/C3によるCPT2欠損症の新生児マススクリーニング2018

    • Author(s)
      但馬 剛、原 圭一、津村 弥来、香川 礼子、岡田 賢、湯浅 光織、畑 郁江、重松 陽介、山口 清次
    • Organizer
      第60回日本先天代謝異常学会
    • Data Source
      KAKENHI-PROJECT-17K10112
  • [Presentation] STAT1機能獲得型変異による原発性免疫不全症2018

    • Author(s)
      岡田 賢
    • Organizer
      第1 回日本免疫不全・自己炎症学会総会・学術集会
    • Invited
    • Data Source
      KAKENHI-PROJECT-16H05355
  • [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幹細胞移植の有効性と問題点の検討2018

    • Author(s)
      岡田 賢, Jennifer W. Leiding, Troy R. 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-16H05355
  • [Presentation] MSMD update2018

    • Author(s)
      岡田 賢
    • Organizer
      第60回 日本小児血液・がん学会
    • Invited
    • Data Source
      KAKENHI-PROJECT-18KK0228
  • [Presentation] 未来を担う若手への『研究』のススメ2018

    • Author(s)
      岡田 賢
    • Organizer
      第46回 日本臨床免疫学会総会
    • Invited
    • Data Source
      KAKENHI-PROJECT-18KK0228
  • [Presentation] Asfotase Alfa投与によりミオパチー症状の軽快を得た成人型低ホスファターゼ症2017

    • Author(s)
      岡田 賢, 坂田園子, 香川礼子, 宇都宮朱里, 立川 加奈子, 北岡太一, 道上敏美, 大薗恵一, 小林正夫
    • Organizer
      第90回 日本内分泌学会学術集会
    • Data Source
      KAKENHI-PROJECT-16K15528
  • [Presentation] Asfotase Alfa投与によりミオパチー症状の軽快を得た成人型低ホスファターゼ症2017

    • Author(s)
      岡田 賢, 坂田園子, 香川礼子, 宇都宮朱里, 立川 加奈子, 北岡太一, 道上敏美, 大薗恵一, 小林正夫
    • Organizer
      第90回 日本内分泌学会学術集会
    • Data Source
      KAKENHI-PROJECT-16H05355
  • [Presentation] Primary immunodeficiency associate with functional defect of RORγT2016

    • Author(s)
      Satoshi Okada, Janet Markle, Anne Puel, Masao Kobayashi, Jean-Laurent Casanova
    • Organizer
      The 39th Annual Meeting of the Molecular Biology
    • Place of Presentation
      横浜
    • Year and Date
      2016-11-30
    • Invited
    • Data Source
      KAKENHI-PROJECT-16H05355
  • [Presentation] Alanine-scanning mutagenesis of human STAT1 to estimate the loss- or gain-offunction nature of variants2016

    • Author(s)
      Satoshi Okada, Ryoji Fujiki, Reiko Kagawa, Miyuki Tsumura, Xiaofei Kong, Sonoko Sakata, Shiho Nishimura, Zenichiro Kato, Hidenori Ohnishi, Yuval Itan, Stephanie Boisson-Dupuis, Jacinta Bustamante, Jean-Laurent Casanova, Osamu Ohara, and Masao Kobayashi
    • Organizer
      17th Biennial Meeting of the European Society for immunodeficiencies
    • Place of Presentation
      Barcelona (Spain)
    • Year and Date
      2016-09-21
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K15528
  • [Presentation] Loss-of-function and dominant negative STAT1 coiled-coil domain mutations in MSMD2016

    • Author(s)
      Satoshi Okada, Reiko Kagawa, Ryoji Fujiki, Zenichiro Kato, Hidenori Ohnishi, Stephanie Boisson-Dupuis, Jacinta Bustamante, Jean-Laurent Casanova, Osamu Ohara, and Masao Kobayashi
    • Organizer
      Congress of Asia Pacific Society for Immunodeficiencies
    • Place of Presentation
      Hong Kong (China)
    • Year and Date
      2016-04-30
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16H05355
  • [Presentation] Alanine-scanning mutagenesis of human STAT1 to estimate the loss- or gain-of-function nature of variants2016

    • Author(s)
      Satoshi Okada, Ryoji Fujiki, Reiko Kagawa, Miyuki Tsumura, Xiaofei Kong, Sonoko Sakata, Shiho Nishimura, Zenichiro Kato, Hidenori Ohnishi, Yuval Itan, Stephanie Boisson-Dupuis, Jacinta Bustamante, Jean-Laurent Casanova, Osamu Ohara, and Masao Kobayashi
    • Organizer
      17th Biennial Meeting of the European Society for immunodeficiencies
    • Place of Presentation
      Barcelona (Spain)
    • Year and Date
      2016-09-21
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16H05355
  • [Presentation] Loss-of-function and dominant negative STAT1 coiled-coil domain mutations in MSMD2016

    • Author(s)
      Satoshi Okada, Reiko Kagawa, Ryoji Fujiki, Zenichiro Kato, Hidenori Ohnishi, Stephanie Boisson-Dupuis, Jacinta Bustamante, Jean-Laurent Casanova, Osamu Ohara, and Masao Kobayashi
    • Organizer
      Congress of Asia Pacific Society for Immunodeficiencies
    • Place of Presentation
      Hong Kong (China)
    • Year and Date
      2016-04-30
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K15528
  • [Presentation] International survey of clinical manifestations of patients with STAT1 gain-of-function mutations2016

    • Author(s)
      岡田賢, 津村弥来, 西村志帆, 坂田園子, 香川礼子, Julie Toubiana, Anne Puel, Jean-Laurent Casanova, 小林正夫
    • Organizer
      第78回 日本血液学会
    • Place of Presentation
      横浜
    • Year and Date
      2016-10-13
    • Data Source
      KAKENHI-PROJECT-16H05355
  • [Presentation] Primary immunodeficiency associate with functional defect of RORγT2016

    • Author(s)
      Satoshi Okada, Janet Markle, Anne Puel, Masao Kobayashi, Jean-Laurent Casanova
    • Organizer
      The 39th Annual Meeting of the Molecular Biology
    • Place of Presentation
      横浜
    • Year and Date
      2016-11-30
    • Invited
    • Data Source
      KAKENHI-PROJECT-16K15528
  • [Presentation] STAT1機能獲得型変異を有する原発性免疫不全症患者の臨床症状の国際調査2016

    • Author(s)
      岡田賢, 津村弥来, 西村志帆, 坂田園子, Julie Toubiana, Anne Puel, Jean-Laurent Casanova, 小林正夫
    • Organizer
      第44回 日本臨床免疫学会
    • Place of Presentation
      東京
    • Year and Date
      2016-09-08
    • Data Source
      KAKENHI-PROJECT-16K15528
  • [Presentation] STAT1機能獲得型変異を有する原発性免疫不全症患者の臨床症状の国際調査2016

    • Author(s)
      岡田賢, 津村弥来, 西村志帆, 坂田園子, Julie Toubiana, Anne Puel, Jean-Laurent Casanova, 小林正夫
    • Organizer
      第44回 日本臨床免疫学会
    • Place of Presentation
      東京
    • Year and Date
      2016-09-08
    • Data Source
      KAKENHI-PROJECT-16H05355
  • [Presentation] International survey of clinical manifestations of patients with STAT1 gain-offunction mutations2016

    • Author(s)
      岡田賢, 津村弥来, 西村志帆, 坂田園子, 香川礼子, Julie Toubiana, Anne Puel, Jean-Laurent Casanova, 小林正夫
    • Organizer
      第78回 日本血液学会
    • Place of Presentation
      横浜
    • Year and Date
      2016-10-13
    • Data Source
      KAKENHI-PROJECT-16K15528
  • [Presentation] Impairment of IL-17 immunity to Candida and IFN-γ immunity to Mycobacterium in humans with inherited RORγT deficiency2015

    • Author(s)
      Satoshi Okada, Janet Markle, Anne Puel, Jacinta Bustamante, Masao Kobayashi, and Jean-Laurent Casanova
    • Organizer
      The 44th Annual Meeting of the Japanese Society for Immunology
    • Place of Presentation
      Sapporo
    • Year and Date
      2015-11-18
    • Data Source
      KAKENHI-PROJECT-25713039
  • [Presentation] Impairment of IL-17 immunity to Candida and IFNγ immunity to Mycobacterium in humans with bi-allelic Rorc mutations.2015

    • Author(s)
      Okada S, Markle J, Kobayashi M, Bustamante J, Casanova JL
    • Organizer
      The 57th American Society of Hematology Annual Meeting and Exposition
    • Place of Presentation
      Orlando, FL, USA
    • Year and Date
      2015-12-05
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-25293231
  • [Presentation] RORγT 異常による原発性免疫不全症2015

    • Author(s)
      岡田 賢, 小林正夫
    • Organizer
      日本人類遺伝学会 第60回大会
    • Place of Presentation
      東京
    • Year and Date
      2015-10-15
    • Data Source
      KAKENHI-PROJECT-25713039
  • [Presentation] 慢性皮膚粘膜カンジダ症 ~IL-17異常を分子基盤とした原発性免疫不全症~2015

    • Author(s)
      岡田 賢
    • 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
    • Year and Date
      2015-04-26
    • Invited
    • Data Source
      KAKENHI-PROJECT-25713039
  • [Presentation] MSMD Patients with IFN-γ-STAT1 Signaling Defect Present Enhanced Osteoclastogenesis and Bone Resorption.2015

    • Author(s)
      Nishimura S, Tsumura M, Hirata O, Reiko Kagawa, Mizoguchi Y, Okada S, Kobayashi M
    • Organizer
      The 57th American Society of Hematology Annual Meeting and Exposition
    • Place of Presentation
      Orlando, FL, USA
    • Year and Date
      2015-12-05
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-25293231
  • [Presentation] Chronic Mucocutaneous Candidiasis2015

    • Author(s)
      Satoshi Okada
    • Organizer
      Pediatric Academic Societies annual meeting 2015
    • Place of Presentation
      San Diego (USA)
    • Year and Date
      2015-04-26
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-25713039
  • [Presentation] 新生児期の好中球減少症2014

    • Author(s)
      岡田 賢
    • Organizer
      日本産婦人科・新生児血液学会学術集会
    • Place of Presentation
      横浜
    • Data Source
      KAKENHI-PROJECT-25670477
  • [Presentation] 新生児期の好中球減少症2014

    • Author(s)
      岡田 賢
    • Organizer
      日本産婦人科・新生児血液学会学術集会
    • Place of Presentation
      横浜
    • Data Source
      KAKENHI-PROJECT-25713039
  • [Presentation] STAT1異常による原発性免疫不全症2013

    • Author(s)
      岡田 賢
    • Organizer
      日本小児科学会
    • Place of Presentation
      広島
    • Data Source
      KAKENHI-PROJECT-25670477
  • [Presentation] Genetic characteristic of patients with severe congenital neutropenia in Japan.2013

    • Author(s)
      Masao Kobayashi, Yoko Mizoguchi, Shuhei Karakawa, Satoshi Okada, Hiroshi Kawaguchi, Kazuhiro Nakamura
    • Organizer
      27th International Congress of Pediatrics
    • Place of Presentation
      Melbourne, Australia
    • Data Source
      KAKENHI-PROJECT-25293231
  • [Presentation] STAT1異常による原発性免疫不全症2013

    • Author(s)
      岡田 賢
    • Organizer
      日本小児科学会
    • Place of Presentation
      広島
    • Data Source
      KAKENHI-PROJECT-25713039
  • [Presentation] MSUD の酵素診断:正常活性を示すロイシン持続高値同胞例の BCKDK 遺伝子解析2012

    • Author(s)
      香川礼子,津村弥来,原圭一,岡田賢,但馬剛,佐倉伸夫,徳原大介,岡野善行
    • Organizer
      第54回日本先天代謝異常学会
    • Place of Presentation
      岐阜市
    • Data Source
      KAKENHI-PROJECT-22591131
  • [Presentation] Enzymatic diagnosis of maple syrup urine disease in Japan : application of HPLC-based radioisotope-free method measuring isovaleryl-CoA production2011

    • Author(s)
      但馬剛, 津村弥来, 岡田賢, 他
    • Organizer
      Annual Symposium of the Society for the Study of Inborn Errors of Metabolism
    • Place of Presentation
      ジュネーブ,スイス
    • Data Source
      KAKENHI-PROJECT-22591131
  • [Presentation] Enzymatic diagnosis of maple syrup urine disease in Japan: application of HPLC-based radioisotope-free method measuring isovaleryl-CoA production2011

    • Author(s)
      Go Tajima, Miyuki Tsumura, Yoko Mizoguchi, Akari Utsunomiya, Keiichi Hara, Satoshi Okada, Yoshiyuki Okano, Nobuo Sakura, Masao Kobayashi
    • Organizer
      Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium 2011
    • Place of Presentation
      Geneva, Switzerland.
    • Data Source
      KAKENHI-PROJECT-22591131
  • [Presentation] Congenital Neutropenia in Japan2010

    • Author(s)
      Okada S
    • Organizer
      The 2nd Symposium for PID in Asia
    • Place of Presentation
      Chiba
    • Year and Date
      2010-05-02
    • Data Source
      KAKENHI-PROJECT-20790731
  • [Presentation] 先天性好中球減少圧と血液瘍2009

    • Author(s)
      岡田賢, 他
    • Organizer
      第71回日本血液学会
    • Place of Presentation
      京都
    • Year and Date
      2009-10-25
    • Data Source
      KAKENHI-PROJECT-20790731
  • [Presentation] 重症先天性好中球減少症, 周期性好中球減少症におけるELA2解析2009

    • Author(s)
      岡田賢, 他
    • Organizer
      第71回日本血液学会
    • Place of Presentation
      京都
    • Year and Date
      2009-10-25
    • Data Source
      KAKENHI-PROJECT-20790731
  • [Presentation] Follow-Up of 27 patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency : Relevance of Genotype for Clinical Course2009

    • Author(s)
      Nakamura A, Okada S, et al
    • Organizer
      ENDO 2009 : The 91nd Annual Meeting & Expc
    • Place of Presentation
      Washington, USA
    • Year and Date
      2009-06-11
    • Data Source
      KAKENHI-PROJECT-20790731
  • [Presentation] 重症先天性好中球少症,周期性好中球減少症におけるELLA2解析2009

    • Author(s)
      岡田賢, 他
    • Organizer
      第71回日本血液学会
    • Place of Presentation
      京都
    • Year and Date
      2009-10-25
    • Data Source
      KAKENHI-PROJECT-20790731
  • [Presentation] Follow-Up of 27 patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Relevance of Genotype for Clinical Course. ENDO 20092009

    • Author(s)
      Nakamura A, Okada S, et al
    • Organizer
      The 91nd Annual Meeting & Expo
    • Place of Presentation
      Washington, USA
    • Year and Date
      2009-06-11
    • Data Source
      KAKENHI-PROJECT-20790731
  • [Presentation] A novel splicing mutation in NEMO gene in a patient with X-linked ectodermal dysplasia with immunodeficiency2009

    • Author(s)
      Karakawa S, Okada S, et al
    • Organizer
      51th ASH annual meeting
    • Place of Presentation
      New Orleans, USA
    • Year and Date
      2009-12-06
    • Data Source
      KAKENHI-PROJECT-20790731
  • [Presentation] 先天性好中球減少症と血液腫瘍2009

    • Author(s)
      岡田賢, 他
    • Organizer
      第71回日本血液学会
    • Place of Presentation
      京都
    • Year and Date
      2009-10-25
    • Data Source
      KAKENHI-PROJECT-20790731
  • [Presentation] Novel Heterozygous Mutation 572 insA in TACI Identified in a Patient with Selective IgA Deficiency2008

    • Author(s)
      Okada S, et.al.
    • Organizer
      50th ASH annual meeting
    • Place of Presentation
      San Francisco, USA
    • Year and Date
      2008-12-06
    • Data Source
      KAKENHI-PROJECT-20790731
  • [Presentation] 重症先天性好中球減少症の遺伝子解析2008

    • Author(s)
      岡田賢, 他
    • Organizer
      第70回日本血液学会
    • Place of Presentation
      京都
    • Year and Date
      2008-10-11
    • Data Source
      KAKENHI-PROJECT-20790731
  • [Presentation] Novel Heterozygous Mutation 572insA in TACI Identified in a Patient with Selective IgA Deficiency2008

    • Author(s)
      Okada S, et al
    • Organizer
      50th ASH annual meeting
    • Place of Presentation
      San Francisco, USA
    • Year and Date
      2008-12-06
    • Data Source
      KAKENHI-PROJECT-20790731
  • [Presentation] 重症先天性好中球減少症の遺伝子解析2008

    • Author(s)
      岡田賢, 他
    • Organizer
      第111回日本小児科学会学術集会
    • Place of Presentation
      東京
    • Year and Date
      2008-04-27
    • Data Source
      KAKENHI-PROJECT-20790731
  • [Presentation] 重症先天性好中球減少症の遺伝子解析2008

    • Author(s)
      岡田賢, 他
    • Organizer
      第70回日本血液学会, 第50回日本臨床血液学会
    • Place of Presentation
      京都
    • Year and Date
      2008-10-11
    • Data Source
      KAKENHI-PROJECT-20790731
  • [Presentation] Chronic Mucocutaneous Candidiasis

    • Author(s)
      Okada S
    • Organizer
      Pediatric Academic Society annual meeting 2015
    • Place of Presentation
      San Diego, USA
    • Year and Date
      2015-04-25 – 2015-04-28
    • Data Source
      KAKENHI-PROJECT-25713039
  • [Presentation] 新生児期の好中球減少症

    • Author(s)
      岡田 賢, 中村和洋, 小林正夫
    • Organizer
      第24回 日本産婦人科・新生児血液学会学術集会
    • Place of Presentation
      横浜
    • Year and Date
      2014-06-13 – 2014-06-14
    • Invited
    • Data Source
      KAKENHI-PROJECT-25670477
  • [Presentation] 新生児期の好中球減少症

    • Author(s)
      岡田 賢, 中村和洋, 小林正夫
    • Organizer
      第2回 日本産婦人科・新生児血液学会学術集会
    • Place of Presentation
      横浜
    • Year and Date
      2014-06-13 – 2014-06-14
    • Invited
    • Data Source
      KAKENHI-PROJECT-25713039
  • [Presentation] STAT1 gain-of-function in patients with chronic mucocutaneous candidiasis can be detected by the excessive phosphorylation of STAT1 in peripheral blood monocytes.

    • Author(s)
      Yoko Mizoguchi, Satoshi Okada, Miyuki Tsumura, Osamu Hirata, Shizuko Minegishi, Jean-Laurent Casanova, Tomohiro Morio, Masao Kobayashi
    • Organizer
      The 56th American Society of Hematology Annual Meeting and Expositio
    • Place of Presentation
      San Francisco, CA, USA
    • Year and Date
      2014-12-06 – 2014-12-09
    • Data Source
      KAKENHI-PROJECT-25293231
  • [Presentation] Chronic Mucocutaneous Candidiasis

    • Author(s)
      Okada S
    • Organizer
      Pediatric Academic Society annual meeting 2015
    • Place of Presentation
      San Diego, USA
    • Year and Date
      2015-04-25 – 2015-04-28
    • Data Source
      KAKENHI-PROJECT-25670477
  • [Presentation] Siginificant augmentation of regulatory T cells in early neonatal period.

    • Author(s)
      Seiich Hayakawa, Seiko Maeno, Norioki Ohno, Satoshi Okada, Yutaka Nishimura, Michiko Hayashidani, Masao Kobayashi
    • Organizer
      16th Biennial Meeting of the European Society for Immunodeficiencies
    • Place of Presentation
      Prague, Czech
    • Year and Date
      2014-10-29 – 2014-11-01
    • Data Source
      KAKENHI-PROJECT-25293231
  • 1.  TSUMURA Miyuki (80646274)
    # of Collaborated Projects: 11 results
    # of Collaborated Products: 65 results
  • 2.  OHARA Osamu (20370926)
    # of Collaborated Projects: 6 results
    # of Collaborated Products: 7 results
  • 3.  浅野 孝基 (50835501)
    # of Collaborated Projects: 3 results
    # of Collaborated Products: 21 results
  • 4.  Yamamoto Takashi (90244102)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 1 results
  • 5.  金兼 弘和 (00293324)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 3 results
  • 6.  早川 誠一 (60815314)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 7.  坂田 園子 (50897907)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 4 results
  • 8.  溝口 洋子 (30750533)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 2 results
  • 9.  TAJIMA Go (00432716)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 3 results
  • 10.  Kobayashi Masao (00162016)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 9 results
  • 11.  Nakamura Kazuhiro (70363059)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 12.  川島 祐介 (30588124)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 13.  祖父江 育子 (80171396)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 14.  三上 幸夫 (80422129)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 15.  前田 慶明 (10536783)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 16.  中村 マリ子 (40979308)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 17.  笹木 忍 (90326306)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 18.  武澤 友弘 (30979307)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 19.  土路生 明美 (00347626)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 20.  本多 直子 (50746617)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 21.  加藤 豊 (10983174)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 22.  KAGAWA Reiko
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 2 results
  • 23.  UTSUNOMIYA Akari
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 24.  NISHIMURA shiho
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 4 results
  • 25.  SAITO satoshi
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 26.  IMAI Kohsuke
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 4 results
  • 27.  SANO Chiaki
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 28.  YAMADA Kenji
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 29.  金澤 伸雄
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 30.  松浦 伸也
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 31.  宮本 達雄
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 32.  阿久津 シルビア夏子
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 33.  保科 隆之
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 34.  楠原 浩一
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 35.  木田 佳子
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 36.  森尾 友宏
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 37.  玉浦 萌
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 38.  野々山 恵章
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 39.  谷内 一郎
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 40.  濱崎 純
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 41.  水野 晴夫
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 42.  小川 誠司
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 2 results
  • 43.  江藤 正俊
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 44.  西小森 隆太
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 45.  山口 清次
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 46.  加藤 善一郎
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 47.  高田 英俊
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 48.  大西 秀典
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 49.  江藤 浩之
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results

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