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Nishikomori Ryuta  西小森 隆太

… Alternative Names

NISHIKOMORI Ryuta  西小森 隆太

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Researcher Number 70359800
Other IDs
  • ORCIDhttps://orcid.org/0000-0002-9407-6158
External Links
Affiliation (Current) 2025: 久留米大学, 医学部, 教授
Affiliation (based on the past Project Information) *help 2025: 久留米大学, 医学部, 教授
2020 – 2023: 久留米大学, 医学部, 教授
2019: 久留米大学, 医学部, 准教授
2016 – 2017: 京都大学, 医学研究科, 准教授
2016: 京都大学, 大学院医学研究科 発達小児科学, 准教授 … More
2012 – 2016: 京都大学, 医学(系)研究科(研究院), 准教授
2012 – 2013: 京都大学, 大学院・医学研究科, 准教授
2010 – 2013: 京都大学, 医学研究科, 准教授
2007 – 2009: Kyoto University, Faculty of Medicine, Assistant Professor
2008: 京都大学, 大学院・医学研究科, 助教
2003 – 2006: 京都大学, 医学研究科, 助手 Less
Review Section/Research Field
Principal Investigator
Pediatrics / Basic Section 52050:Embryonic medicine and pediatrics-related
Except Principal Investigator
Pediatrics / 膠原病・アレルギー・感染症内科学 / Dermatology / Basic Section 54020:Connective tissue disease and allergy-related / Basic Section 52050:Embryonic medicine and pediatrics-related / Biological Sciences
Keywords
Principal Investigator
iPS細胞 / NLRP3 / 自己炎症性疾患 / IFIH1 / Aicardi-Goutieres症候群 / CAPS / 自然免疫 / 炎症 / 体細胞モザイク / 原発性免疫不全症 … More / NEMO / MDA5 / 全エクソーム解析 / 自己炎症性症候群 / 自己炎症症候群 / CINCA症候群 / 1型インターフェロン / ミクログリア / Ⅰ型インターフェロン / Type I interferonopathy / エカルディ・グティエール症候群 / オミックス解析 / マルチオミックス解析 / マクロファージ / iPS細胞由来細胞株 / 疾患特異的iPS細胞 / TNF受容体関連周期性症候群 / iPS-ML / TRAPS / TNF受容体関連症候群 / MAFB / 遺伝子改変マウス / 遺伝子異常 / 遺伝性炎症性疾患 / NLRC4 / 遺伝子探索 / deep intron変異 / PCYT1A / 炎症性疾患 / メバロン酸キナーゼ欠損症 / FLNA異常症 / NLRC4異常症 / T cells development / Primary Immunodeficiency / Ectodermal dysplasia / T細胞 / 細胞内染色 / フローサイトメトリー / TAT融合蛋白 / IκBα / 外胚葉形成不全免疫不全症候群 / T細胞分化 / 外胚葉形成不全 / Aicardi-Goutieres 症候群 / パターン認識受容体 / 寒冷刺激 / インターフェロン / 次世代シークエンサー / 単細胞解析 / 軟骨分化 / 遺伝子診断 / 自己炎症 / ELISA / インフラマソーム / SOX9 / FilaminA / FilaminA異常症 / 不明熱 / 軟骨 / メンデル遺伝疾患 / 膠原病 / アレルギー / 小児免疫 / 体細胞モデイク / CIAS1 / 小児免疫・アレルギー・膠原病学 … More
Except Principal Investigator
IFN-gamma / Th1 / 自己免疫疾患 / IL-17 / 関節リウマチ / Th17 / helper T cell / TGF-beta / レトロウイルス / STAT1 / STAT4 / T-bet / Th2 / ヘルパーT細胞 / 自己炎症疾患 / 軟骨細胞 / CAPS / モザイシズム / インフラマソーム / 自己炎症性疾患 / iPS細胞 / 迅速診断 / 迅速診断法 / gamma / 関節炎モデルマウス / NLRP3 / 可塑性 / 造血幹細胞 / 組織幹細胞 / 一次繊毛 / 関節炎 / CLM-3 / KIF7 / 遺伝子 / バイオマーカー / 病因遺伝子 / 血清マーカー / 小児 / 自己免疫性肝疾患 / 機能病態解析 / 病態解析 / 迅速スクリーニング / バイオマーカー検索 / 細胞ライブラリー / 機能解析系の確立 / 機能解析 / 分子病態解析 / 血球貪食性リンパ組織球症 / arthritis model mouse / rheumatoid arthritis / autoimmune disease / delta T cell / 関節リマウチ / TGF-β / IL-10 / 制御性T細胞 / type II collagen / 細胞移入療法 / 単球、マクロファージ / 単球・マクロファージ / 病態解明 / NOD2 / 肉芽腫 / 皮膚炎症・再生学 / mevalonate kinase / 自然免疫 / 次世代シークエンサー / インフラマゾーム / 高IgD症候群 / 家族性血球貪食症候群 / 家族性血球貪食性リンパ組織球症 / 原発性免疫不全症 / コラーゲン誘導関節炎 / SKGマウス / ケモカイン / サイトカイン / delta T細胞 / TAPtag法 / catyepsinB / 細胞内微生物認識受容体 / cathepsin B / ASC / 細胞死 / 細胞内パターン認識受容体 / cryopyrin / CIAS1 / 免疫学 / 皮膚感染症 / 分化能 / 再生医療 / ヒト臍帯血細胞 / γcnull / 免疫不全マウス / 肝障害 / アルブミン / 臍帯血 / γ_c^<null>マウス / SCID / NOD / 肝細胞 / ex vivo増幅 / 自己複製因子 / ノックアウトマウス / 遺伝子クローニング / 再生医学 / hemangioblast / 発生 / 体性幹細胞 / ヒト / 移植 / 再生 / 倫理 / 分化 / 自己複製 / ES細胞 Less
  • Research Projects

    (22 results)
  • Research Products

    (161 results)
  • Co-Researchers

    (49 People)
  •  クリオピリン関連周期熱症候群における両アリル変異による重症化機序の解明Principal Investigator

    • Principal Investigator
      西小森 隆太
    • Project Period (FY)
      2025 – 2027
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 52050:Embryonic medicine and pediatrics-related
    • Research Institution
      Kurume University
  •  一次繊毛KIF7分子の関節炎への役割の検討と治療への応用

    • Principal Investigator
      井田 弘明
    • Project Period (FY)
      2023 – 2025
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 54020:Connective tissue disease and allergy-related
    • Research Institution
      Kurume University
  •  Elucidation of pathophysiology of Aicardi-Goutieres syndrome by cellular engineering technologyPrincipal Investigator

    • Principal Investigator
      西小森 隆太
    • 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
      Kurume University
  •  Exploring biomarker and disease-associated gene in pediatric patients with autoimmune liver disease

    • Principal Investigator
      Mizuochi Tatsuki
    • Project Period (FY)
      2021 – 2023
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 52050:Embryonic medicine and pediatrics-related
    • Research Institution
      Kurume University
  •  Elucidation of molecular mechanism of TNF receptor-associated periodic syndrome by cell technology and multi-omics analysisPrincipal Investigator

    • Principal Investigator
      Nishikomori Ryuta
    • Project Period (FY)
      2019 – 2021
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 52050:Embryonic medicine and pediatrics-related
    • Research Institution
      Kurume University
  •  Exploration of the causative genes and elucidation of the pathophysiology on immune dysregulatory diseases with intractable inflammationPrincipal Investigator

    • Principal Investigator
      Ryuta Nishikomori
    • Project Period (FY)
      2015 – 2017
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      Kyoto University
  •  Establishing a platform for molecular analysis and drug innovation of auto-inflammatory disorders

    • Principal Investigator
      Heike Toshio
    • Project Period (FY)
      2014 – 2016
    • Research Category
      Grant-in-Aid for Scientific Research (A)
    • Research Field
      Pediatrics
    • Research Institution
      Kyoto University
  •  Establishing an innovative platform for the analysis of hemophagocytic lymphohistiocytosis

    • Principal Investigator
      Yasumi Takahiro
    • Project Period (FY)
      2014 – 2016
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Kyoto University
  •  Elucidation of cold-induced gene induction mechanism by analyzing Mendelian-inherited diseases with cold-induced inflammationPrincipal Investigator

    • Principal Investigator
      NISHIKOMORI RYUTA
    • Project Period (FY)
      2013 – 2015
    • Research Category
      Grant-in-Aid for Challenging Exploratory Research
    • Research Field
      Pediatrics
    • Research Institution
      Kyoto University
  •  Exploration of the responsible gene and the pathophysiology for unidentified fever syndromes by whole genome analysis and cell-based engineeringPrincipal Investigator

    • Principal Investigator
      NISHIKOMORI Ryuta
    • Project Period (FY)
      2012 – 2014
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      Kyoto University
  •  Analysis and development of medical treatment for autoinflammatory diseases

    • Principal Investigator
      HEIKE TOSHIO
    • Project Period (FY)
      2011 – 2013
    • Research Category
      Grant-in-Aid for Scientific Research (A)
    • Research Field
      Pediatrics
    • Research Institution
      Kyoto University
  •  Molecular mechanism on granuloma formation based on the analysis with cellular and molecular biology

    • Principal Investigator
      KAMBE Naotomo
    • Project Period (FY)
      2011 – 2013
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Dermatology
    • Research Institution
      Chiba University
  •  Establishing rapid diagnostic method and unraveling the pathogenesis offamilial hemophagocytic lymphohistiocytosis

    • Principal Investigator
      YASUMI Takahiro
    • Project Period (FY)
      2010 – 2012
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Kyoto University
  •  Development of CINCA syndrome therapy based upon the pathophysiology of CINCA syndrome elucidated by cytoengineering.Principal Investigator

    • Principal Investigator
      NISHIKOMORI Ryuta
    • Project Period (FY)
      2009 – 2011
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      Kyoto University
  •  Development of new anti-inflammatory compounds and/or biologics to achieve disease specific immune-regulation

    • Principal Investigator
      USUI Takashi
    • Project Period (FY)
      2008 – 2010
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      膠原病・アレルギー・感染症内科学
    • Research Institution
      Kyoto University
  •  Study on causes and pathophysiology of CINCA syndrome patients without CIAS1 gene mutationsPrincipal Investigator

    • Principal Investigator
      NISHIKOMORI Ryuta
    • Project Period (FY)
      2007 – 2008
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Kyoto University
  •  Molecular mechanism of cell death induced by the activation of intracellular pattern recognition receptor, cryopyrin

    • Principal Investigator
      KAMBE Naotomo
    • Project Period (FY)
      2007 – 2008
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Dermatology
    • Research Institution
      Chiba University
  •  Establishment of disease specific immunotherapy using specific antigen and immunoregulatory molecule

    • Principal Investigator
      USUI Takshi
    • Project Period (FY)
      2006 – 2007
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      膠原病・アレルギー・感染症内科学
    • Research Institution
      Kyoto University
  •  Trial of disease specific immunotherapy using antigen-specific T cells and immunoregulatory genes.

    • Principal Investigator
      USUI Takshi
    • Project Period (FY)
      2004 – 2005
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      膠原病・アレルギー・感染症内科学
    • Research Institution
      Kyoto University
  •  Analysis of human T cells development in ectodermal dysplasia and immunodeficiency patientsPrincipal Investigator

    • Principal Investigator
      NISHIKIMORI Ryuta
    • Project Period (FY)
      2004 – 2005
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Kyoto University Department of Medicine
  •  免疫不全マウスへのGFP標識臍帯血細胞移植による多分化能、クローナリティー解析

    • Principal Investigator
      平家 俊男
    • Project Period (FY)
      2003 – 2004
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Review Section
      Biological Sciences
    • Research Institution
      Kyoto University
  •  ES細胞、組織幹細胞の増殖・分化機構の解明とその臨床応用に関する研究

    • Principal Investigator
      NAKAHATA Tatsutoshi
    • Project Period (FY)
      2001 – 2005
    • Research Category
      Grant-in-Aid for Creative Scientific Research
    • Research Institution
      Kyoto University

All 2024 2023 2022 2021 2020 2019 2018 2017 2016 2015 2014 2013 2012 2011 2010 2009 2008 2007 2006 2005 2004 Other

All Journal Article Presentation Patent

  • [Journal Article] STAT1 Mutations in Chronic Mucocutaneous Candidiasis Diagnosed in an Adult2024

    • Author(s)
      Andou Miya、Tominaga Masaki、Nishikomori Ryuta、Gotoh Kenji、Komatsu Nobukazu、Matsuoka Masanobu、Kawayama Tomotaka、Hoshino Tomoaki
    • Journal Title

      Intern. Med.

      Volume: 63 Issue: 9 Pages: 1269-1271

    • DOI

      10.2169/internalmedicine.2350-23

    • ISSN
      0918-2918, 1349-7235
    • Year and Date
      2024-05-01
    • Language
      English
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22K07829
  • [Journal Article] STING signalling is terminated through ESCRT-dependent microautophagy of vesicles originating from recycling endosomes.2023

    • Author(s)
      Kuchitsu Y, Mukai K, Uematsu R, Takaada Y, Shinojima A, Shindo R, Shoji T, Hamano S, Ogawa E, Sato R, Miyake K, Kato A, Kawaguchi Y, Nishitani-Isa M, Izawa K, Nishikomori R, Yasumi T, Suzuki T, Dohmae N, Uemura T, Barber GN, Arai H, Waguri S, Taguchi T.
    • Journal Title

      Nature Cell Biology

      Volume: 25 Issue: 3 Pages: 453-466

    • DOI

      10.1038/s41556-023-01098-9

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-21K07104, KAKENHI-PROJECT-21K19498, KAKENHI-PUBLICLY-22H05584, KAKENHI-PROJECT-20H03202, KAKENHI-PROJECT-20H03415, KAKENHI-PROJECT-21K15464, KAKENHI-PROJECT-20H03492, KAKENHI-PUBLICLY-21H00338, KAKENHI-PUBLICLY-22H04631, KAKENHI-PROJECT-22K07829, KAKENHI-PROJECT-22K19424, KAKENHI-PLANNED-22H05184, KAKENHI-PROJECT-21H04800
  • [Journal Article] Efficacy and safety of baricitinib in Japanese patients with autoinflammatory type I interferonopathies (NNS/CANDLE, SAVI, And AGS).2023

    • Author(s)
      Kanazawa N, Ishii T, Takita Y, Nishikawa A, Nishikomori R
    • Journal Title

      Pediatr Rheumatol

      Volume: 21 Issue: 1 Pages: 38-38

    • DOI

      10.1186/s12969-023-00817-8

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K08798, KAKENHI-PROJECT-22K07829
  • [Journal Article] Editorial: A new frontier in translational research on autoinflammatory diseases - various aspects of innate immunity on human diseases2023

    • Author(s)
      Mukai Tomoyuki、Ida Hiroaki、Ueki Yasuyoshi、Nishikomori Ryuta
    • Journal Title

      Frontiers in Immunology

      Volume: 14 Pages: 1147202-1147202

    • DOI

      10.3389/fimmu.2023.1147202

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-21K08484, KAKENHI-PROJECT-23K07901
  • [Journal Article] Promoting awareness of terminology related to unmet medical needs in context of rheumatic diseases in Japan: a systematic review for evaluating unmet medical needs2023

    • Author(s)
      Yamazaki Susumu、Izawa Kazushi、Matsushita Masakazu、Moriichi Akinori、Kishida Dai、Yoshifuji Hajime、Yamaji Ken、Nishikomori Ryuta、Mori Masaaki、Miyamae Takako
    • Journal Title

      Rheumatology International

      Volume: 43 Issue: 11 Pages: 2021-2030

    • DOI

      10.1007/s00296-023-05425-z

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22K07829
  • [Journal Article] Systemic inflammation caused by an intracranial mesenchymal tumor with a EWSR1::CREM fusion presenting associated with IL-6/STAT3 signaling2022

    • Author(s)
      Hojo Keishiro、Furuta Takuya、Komaki Satoru、Yoshikane Yukako、Kikuchi Jin、Nakamura Hideo、Ide Mizuki、Shima Saho、Hiyoshi Yusuke、Araki Junichiro、Tanaka Seiji、Ozono Shuichi、Yoshida Akihiko、Nobusawa Sumihito、Morioka Motohiro、Nishikomori Ryuta
    • Journal Title

      Neuropathology

      Volume: ー Issue: 3 Pages: 244-251

    • DOI

      10.1111/neup.12877

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22K07829
  • [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] Intracellular virus sensor MDA5 mutation develops autoimmune myocarditis and nephritis2022

    • Author(s)
      Ohto Taisuke、Tayeh Ahmed Abu、Nishikomori Ryuta、Abe Hiroto、Hashimoto Kyota、Baba Shiro、Arias-Loza Anahi-Paula、Soda Nobumasa、Satoh Saya、Matsuda Masashi、Iizuka Yusuke、Kondo Takashi、Koseki Haruhiko、Yan Nan、Higuchi Takahiro、Fujita Takashi、Kato Hiroki
    • Journal Title

      Journal of Autoimmunity

      Volume: 127 Pages: 102794-102794

    • DOI

      10.1016/j.jaut.2022.102794

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22K07829
  • [Journal Article] Trapping of CDC42 C-terminal variants in the Golgi drives pyrin inflammasome hyperactivation2022

    • Author(s)
      Nishitani-Isa M, Mukai K, Honda Y, Nihira H, Tanaka T, Shibata H, Miyamoto T, Komada K, Hiejima E, Izawa K, Kawasaki Y, Osawa M, Katata Y, Onodera S, Watanabe T, Kure S, Takita J, Ohara O, Saito M, Nishikomori R, Taguchi T, Sasahara Y#, Yasuki T#. (# Equal corresponding author)
    • Journal Title

      J Exp Med

      Volume: 219(6) Issue: 6

    • DOI

      10.1084/jem.20211889

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K08855, KAKENHI-PROJECT-22K07829, KAKENHI-PROJECT-22K15919, KAKENHI-PROJECT-20H03202
  • [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] Necrotizing Funisitis as an Intrauterine manifestation of Cryopyrin-Associated Periodic Syndrome: a case report and review of the literature2021

    • Author(s)
      Yokoi, K. Minamiguchi, S. Honda, Y. Kobayashi, M. Kobayashi, S. Nishikomori, R.
    • Journal Title

      Pediatr Rheumatol Online J

      Volume: 19 Issue: 1 Pages: 77-77

    • DOI

      10.1186/s12969-021-00578-2

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19K08299
  • [Journal Article] Hematopoietic Cell Transplantation Ameliorates Autoinflammation in A20 Haploinsufficiency2021

    • Author(s)
      Shiraki, M. Williams, E. Yokoyama, N. Shinoda, K. Nademi, Z. Matsumoto, K. Nihira, H. Honda, Y. Izawa, K. Nishikomori, R. Slatter, M. A. Cant, A. J. Gennery, A. R. Ohnishi, H. Kanegane, H.
    • Journal Title

      J Clin Immunol

      Volume: 41 Issue: 8 Pages: 1954-1956

    • DOI

      10.1007/s10875-021-01124-1

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-19K08299, KAKENHI-PROJECT-21K07770
  • [Journal Article] Rapid Flow Cytometry-Based Assay for the Functional Classification of MEFV Variants2021

    • Author(s)
      Honda Y, Maeda Y, Izawa K, Shiba T, Tanaka T, Nakaseko H, Nishimura K, Mukoyama H, Isa-Nishitani M, Miyamoto T, Nihira H, Shibata H, Hiejima E, Ohara O, Takita J, Yasumi T, Nishikomori R.
    • Journal Title

      J Clin Immunol.

      Volume: Online ahead of print. Issue: 6 Pages: 1187-1197

    • DOI

      10.1007/s10875-021-01021-7

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-20K16852, KAKENHI-PROJECT-19K08299, KAKENHI-PROJECT-19K08320, KAKENHI-PROJECT-20H00528, KAKENHI-PROJECT-21K19405
  • [Journal Article] MEFV E148Q variant is more associated with familial Mediterranean fever when combined with other non-exon 10 MEFV variants in Japanese patients with recurrent fever2021

    • Author(s)
      Fujimoto K, Hidaka Y, Koga T, Kaieda S, Yamasaki S, Nakashima M, Hoshino T, Yamamoto K, Nishikomori R, Ida H
    • Journal Title

      Modern Rheumatology

      Volume: in Press Issue: 6 Pages: 1208-1214

    • DOI

      10.1080/14397595.2021.1880534

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K08898, KAKENHI-PROJECT-19K08299, KAKENHI-PROJECT-19K08899, KAKENHI-PROJECT-19K08924
  • [Journal Article] Augmentation of STING‐induced type I interferon production in COPA syndrome2021

    • Author(s)
      Kato Takashi、Yamamoto Masaki、Honda Yoshitaka、Orimo Takashi、Sasaki Izumi、Murakami Kohei、Hemmi Hiroaki、Fukuda‐Ohta Yuri、Isono Kyoichi、Takayama Saki、Nakamura Hidenori、Otsuki Yoshiro、Miyamoto Toshiaki、Takita Junko、Yasumi Takahiro、Nishikomori Ryuta、Matsubayashi Tadashi、Izawa Kazushi、Kaisho Tsuneyasu
    • Journal Title

      Arthritis & Rheumatology

      Volume: in press Issue: 11 Pages: 2105-2115

    • DOI

      10.1002/art.41790

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PUBLICLY-19H04813, KAKENHI-PROJECT-18K16096, KAKENHI-PROJECT-19K07628, KAKENHI-PROJECT-19K08299, KAKENHI-PROJECT-20K16289, KAKENHI-PROJECT-20H00528, KAKENHI-PROJECT-20H03505, KAKENHI-PROJECT-21J22615, KAKENHI-PROJECT-21K06956, KAKENHI-PROJECT-21K09216, KAKENHI-PROJECT-21K19384, KAKENHI-PROJECT-21K19405
  • [Journal Article] Detailed analysis of Japanese patients with adenosine deaminase 2 deficiency reveals characteristic elevation of type II interferon signature and STAT1 hyperactivation.2021

    • Author(s)
      Nihira H, Izawa K, Ito M, Umebayashi H, Okano T, Kajikawa S, ...Yasumi T.
    • Journal Title

      J Allergy Clin Immunol

      Volume: 印刷中 Issue: 2 Pages: 00157-3

    • DOI

      10.1016/j.jaci.2021.01.018

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K16355, KAKENHI-PROJECT-19H03613, KAKENHI-PROJECT-18K18154, KAKENHI-PROJECT-19K08299, KAKENHI-PROJECT-20H00528, KAKENHI-PROJECT-21K19405
  • [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] 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] Clinical phenotypes and genetic analyses for diagnosis of systemic autoinflammatory diseases in adult patients with unexplained fever2020

    • Author(s)
      Hidaka Yukiko、Fujimoto Kyoko、Matsuo Norikazu、Koga Takuma、Kaieda Shinjiro、Yamasaki Satoshi、Nakashima Munetoshi、Migita Kiyoshi、Nakayama Manabu、Ohara Osamu、Hoshino Tomoaki、Nishikomori Ryuta、Ida Hiroaki
    • Journal Title

      Modern Rheumatology

      Volume: 31 Issue: 3 Pages: 704-709

    • DOI

      10.1080/14397595.2020.1784542

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19K08924, KAKENHI-PROJECT-20K17435, KAKENHI-PROJECT-19K08299, KAKENHI-PROJECT-19K08899
  • [Journal Article] Haploinsufficiency of A20 with a novel mutation of deletion of exons 2-3 of TNFAIP3.2020

    • Author(s)
      Shimizu Maho、Matsubayashi Tadashi、Ohnishi Hidenori、Nakama Mina、Izawa Kazushi、Honda Yoshitaka、Nishikomori Ryuta
    • Journal Title

      Modern Rheumatology

      Volume: e-pub Issue: 2 Pages: 1-5

    • DOI

      10.1080/14397595.2020.1719595

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18K07840, KAKENHI-PROJECT-19K17293, KAKENHI-PROJECT-19K08299
  • [Journal Article] Aicardi-Goutieres syndrome-like encephalitis in mutant mice with constitutively active MDA52020

    • Author(s)
      Onizawa Hideo、Kato Hiroki、Kimura Hiroyuki、Kudo Tomoo、Soda Nobumasa、Shimizu Shota、Funabiki Masahide、Yagi Yusuke、Nakamoto Yuji、Priller Josef、Nishikomori Ryuta、Heike Toshio、Yan Nan、Tsujimura Tohru、Mimori Tsuneyo、Fujita Takashi
    • Journal Title

      International Immunology

      Volume: 33 Issue: 4 Pages: 225-240

    • DOI

      10.1093/intimm/dxaa073

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18K15566, KAKENHI-PROJECT-19K08299
  • [Journal Article] ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era2020

    • Author(s)
      Shinar, Y. Ceccherini, I. Rowczenio, D. Aksentijevich, I. Arostegui, J. Ben-Chetrit, E. Boursier, G. Gattorno, M. Hayrapetyan, H. Ida, H. Kanazawa, N. Lachmann, H. J. Mensa-Vilaro, A. Nishikomori, R. van Gijn, M. E. Touitou, I..
    • Journal Title

      Clinical Chemistry

      Volume: 66 Issue: 4 Pages: 525-536

    • DOI

      10.1093/clinchem/hvaa024

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-19K08299, KAKENHI-PROJECT-19K08798, KAKENHI-PROJECT-19K08899
  • [Journal Article] Immunophenotyping of A20 haploinsufficiency by multicolor flow cytometry2020

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

      Clinical Immunology

      Volume: 216 Pages: 108441-108441

    • DOI

      10.1016/j.clim.2020.108441

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19K08299, KAKENHI-PROJECT-20K16852, KAKENHI-PROJECT-18K07814
  • [Journal Article] Functional evaluation of the pathological significance of MEFV variants using induced pluripotent stem cell-derived macrophages2019

    • Author(s)
      Shiba, T. Tanaka, T. Ida, H. Watanabe, M. Nakaseko, H. Osawa, M. Shibata, H. Izawa, K. Yasumi, T. Kawasaki, Y. Saito, M. K. Takita, J. Heike, T. Nishikomori, R.
    • Journal Title

      J Allergy Clin Immunol

      Volume: 144 Issue: 5 Pages: 1438-1441

    • DOI

      10.1016/j.jaci.2019.07.039

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19K08299, KAKENHI-PROJECT-19K17293, KAKENHI-PROJECT-17H04224, KAKENHI-PROJECT-18K19467, KAKENHI-PROJECT-19K08320
  • [Journal Article] Expanding clinical spectrum of autosomal dominant pyrin-associated autoinflammatory disorder caused by the heterozygous MEFV p.Thr577Asn variant2019

    • Author(s)
      Nakaseko, H. Iwata, N. Izawa, K. Shibata, H. Yasuoka, R. Kohagura, T. Abe, N. Kawabe, S. Nishikomori, R.
    • Journal Title

      Rheumatology (Oxford)

      Volume: 58 Pages: 182-184

    • DOI

      10.1093/rheumatology/key283

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19K08299
  • [Journal Article] Functional analysis of a novel G87V TNFRSF1A mutation in patients with TNF receptor-associated periodic syndrome2019

    • Author(s)
      Tsuji, S. Matsuzaki, H. Iseki, M. Nagasu, A. Hirano, H. Ishihara, K. Ueda, N. Honda, Y. Horiuchi, T. Nishikomori, R. Morita, Y. Mukai, T.
    • Journal Title

      Clin Exp Immunol

      Volume: 198 Issue: 3 Pages: 416-429

    • DOI

      10.1111/cei.13365

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-19K08299, KAKENHI-PROJECT-19K08923, KAKENHI-PROJECT-19K08943, KAKENHI-PROJECT-19H03564
  • [Journal Article] Low-frequency mosaicism in cryopyrin-associated periodic fever syndrome: mosaicism in systemic autoinflammatory diseases2019

    • Author(s)
      Nishikomori, R. Izawa, K. Kambe, N. Ohara, O. Yasumi, T.
    • Journal Title

      Int Immunol

      Volume: 31 Issue: 10 Pages: 649-655

    • DOI

      10.1093/intimm/dxz047

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19K08299, KAKENHI-PROJECT-19K08784, KAKENHI-PROJECT-19K17293
  • [Journal Article] Autoinflammatory phenotypes in Aicardi-Goutieres syndrome with interferon upregulation and serological autoimmune features.2018

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

      J Allergy Clin Immunol

      Volume: 141 Issue: 3 Pages: 1135-1138

    • DOI

      10.1016/j.jaci.2017.10.019

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-15H04876, KAKENHI-PROJECT-15K09640
  • [Journal Article] Fever of unknown origin with rashes in early infancy is indicative of adenosine deaminase type 2 deficiency2017

    • Author(s)
      Nihira H、Nakagawa K、Izawa K、Kawai T、Yasumi T、Nishikomori R、Nambu M、Miyagawa-Hayashino A、Nomura T、Kabashima K、Ito M、Iwaki-Egawa S、Sasahara Y、Nakayama M、Heike T
    • Journal Title

      Scandinavian Journal of Rheumatology

      Volume: 47 Issue: 2 Pages: 170-172

    • DOI

      10.1080/03009742.2017.1324912

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16K19640, KAKENHI-PROJECT-15H04876
  • [Journal Article] Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphicIKBKG/NEMO mutations2017

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

      Blood.

      Volume: 130 Issue: 12 Pages: 1456-1467

    • DOI

      10.1182/blood-2017-03-771600

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-26253061, KAKENHI-PROJECT-15H04876, KAKENHI-PROJECT-15K09640, KAKENHI-PROJECT-16K10015
  • [Journal Article] Accurate clinical genetic testing for autoinflammatory diseases using the next-generation sequencing platform MiSeq2017

    • Author(s)
      Nakayama Manabu、Oda Hirotsugu、Nakagawa Kenji、Yasumi Takahiro、Kawai Tomoki、Izawa Kazushi、Nishikomori Ryuta、Heike Toshio、Ohara Osamu
    • Journal Title

      Biochemistry and Biophysics Reports

      Volume: 9 Pages: 146-152

    • DOI

      10.1016/j.bbrep.2016.12.002

    • NAID

      120006355733

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16K19640, KAKENHI-PROJECT-15H04876
  • [Journal Article] Live-attenuated vaccines in a cryopyrin-associated periodic syndrome patient receiving canakinumab treatment during infancy2017

    • Author(s)
      Watanabe, M. Nishikomori, R. Fujimaki, Y. Heike, T. Ohara, A. Saji, T.
    • Journal Title

      Clin Case Rep

      Volume: 11 Issue: 11 Pages: 1750-1755

    • DOI

      10.1002/ccr3.1149

    • NAID

      120006533285

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-15H04876
  • [Journal Article] High level of serum human interleukin-18 in a patient with pyogenic arthritis, pyoderma gangrenosum and acne syndrome2017

    • Author(s)
      Kanameishi, S. Nakamizo, S. Endo, Y. Fujisawa, A. Dainichi, T. Tanaka, T. Izawa, K. Nishikomori, R. Kabashima, K.
    • Journal Title

      J Eur Acad Dermatol Venereol

      Volume: 31 Issue: 2

    • DOI

      10.1111/jdv.13856

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-15H04876
  • [Journal Article] Identification of a High-Frequency Somatic NLRC4 Mutation as a Cause of Autoinflammation by Pluripotent Cell-Based Phenotype Dissection.2017

    • Author(s)
      Kawasaki Y, Oda H, Ito J, Niwa A, Tanaka T, Hijikata A, Seki R, Nagahashi A, Osawa M, Asaka I, Watanabe A, Nishimata S, Shirai T, Kawashima H, Ohara O, Nakahata T, Nishikomori R, Heike T, Saito MK.
    • Journal Title

      Arthritis Rheumatol.

      Volume: 69 Issue: 2 Pages: 447-459

    • DOI

      10.1002/art.39960

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-26253062, KAKENHI-PROJECT-15H04876, KAKENHI-PROJECT-15K00411, KAKENHI-PROJECT-15K06921, KAKENHI-PROJECT-15K21487
  • [Journal Article] A CD57+ CTL degranulation assay effectively identifies familial hemophagocytic lymphohistiocytosis type 3 patients2017

    • Author(s)
      Masayuki Hori, Takahiro Yasumi, Saeko Shimodera, Hirofumi Shibata, Eitaro Hiejima, Hirotsugu Oda, Kazushi Izawa, Tomoki Kawai, Masataka Ishimura, Naoko Nakano, Ryutaro Shirakawa, Ryuta Nishikomori, Hidetoshi Takada, Satoshi Morita, Hisanori Horiuchi, Osamu Ohara, Eiichi Ishii, and Toshio Heike
    • Journal Title

      Journal of Clinical Immunology

      Volume: 37 Issue: 1 Pages: 92-99

    • DOI

      10.1007/s10875-016-0357-3

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-26461582, KAKENHI-PROJECT-15K19623, KAKENHI-PROJECT-16K08574, KAKENHI-PROJECT-15H04876, KAKENHI-PROJECT-15K09655
  • [Journal Article] Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization.2017

    • Author(s)
      Lasiglie, D., Mensa-Vilaro, A., Nakagawa, K., Nishikomori, R., Gattorno, M., Arostegui, J.I. & Borghini, S.
    • Journal Title

      The Journal of rheumatology

      Volume: 44 Issue: 11 Pages: 1667-1673

    • DOI

      10.3899/jrheum.170041

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H04876
  • [Journal Article] Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function2016

    • Author(s)
      Oda H., Sato T., Kunishima S., Nakagawa K., Izawa K., Hiejima E., Kawai T., Yasui T., Doi H., Katamura K., Numabe H., Okamoto S., Nakase H., Hijikata A., Ohara O., Suzuki H., Morisaki H., Morisaki T., Nunoi H., Hattori S., Nishikomori R., Heike T.
    • Journal Title

      Eur J Hum Genet

      Volume: 24 Issue: 3 Pages: 408-414

    • DOI

      10.1038/ejhg.2015.119

    • Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H04876, KAKENHI-PROJECT-25461143, KAKENHI-PROJECT-26860796
  • [Journal Article] Genetic and clinical features of cryopyrin-associated periodic syndromes in Turkish children2016

    • Author(s)
      Eroglu, F. K. Kasapcopur, O. Besbas, N. Ozaltin, F. Bilginer, Y. Barut, K. Mensa-Vilaro, A. Nakagawa, K. Heike, T. Nishikomori, R. Arostegui, J. Ozen, S.
    • Journal Title

      Clin Exp Rheumatol

      Volume: 34

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H04876
  • [Journal Article] Clinical and Genetic Features of Patients With TNFRSF1A Variants in Japan: Findings of a Nationwide Survey2016

    • Author(s)
      Ueda, N. Ida, H. Washio, M. Miyahara, H. Tokunaga, S. Tanaka, F. Takahashi, H. Kusuhara, K. Ohmura, K. Nakayama, M. Ohara, O. Nishikomori, R. Minota, S. Takei, S. Fujii, T. Ishigatsubo, Y. Tsukamoto, H. Tahira, T. Horiuchi, T.
    • Journal Title

      Arthritis Rheumatol

      Volume: 68 Issue: 11 Pages: 2760-2771

    • DOI

      10.1002/art.39793

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-15H04876, KAKENHI-PROJECT-15K09527, KAKENHI-PROJECT-16K09913
  • [Journal Article] Brief Report: Late-Onset Cryopyrin-Associated Periodic Syndrome Due to Myeloid-Restricted Somatic NLRP3 Mosaicism2016

    • Author(s)
      Mensa-Vilaro, A. Teresa Bosque, M. Magri, G. Honda, Y. Martinez-Banaclocha, H. Casorran-Berges, M. Sintes, J. Gonzalez-Roca, E. Ruiz-Ortiz, E. Heike, T. Martinez-Garcia, J. J. Baroja-Mazo, A. Cerutti, A. Nishikomori, R. Yague, J. Pelegrin, P. Delgado-Beltran, C. Arostegui, J. I.
    • Journal Title

      Arthritis Rheumatol

      Volume: 68 Issue: 12 Pages: 3035-3041

    • DOI

      10.1002/art.39770

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H04876
  • [Journal Article] Febrile attacks triggered by milk allergy in an infant with mevalonate kinase deficiency2016

    • Author(s)
      Nakashimai, H. Miyake, F. Ohki, S. Hattori, S. Matsubayashi, T. Izawa, K. Nishikomori, R. Heike, T. Honda, Y. Shigematsu, Y.
    • Journal Title

      Rheumatol Int

      Volume: 36 Issue: 10 Pages: 1477-1478

    • DOI

      10.1007/s00296-016-3522-3

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-15H04876
  • [Journal Article] Laboratory parameters identify familial haemophagocytic lymphohistiocytosis from other forms of paediatric haemophagocytosis2015

    • Author(s)
      Yasumi T, Hori M, Hiejima E, Shibata H, Izawa K, Oda H, Yoshioka K, Nakagawa K, Kawai T, Nishikomori R, Ohara O, Heike T
    • Journal Title

      British Journal of Haematology

      Volume: 170 Issue: 4 Pages: 532-538

    • DOI

      10.1111/bjh.13461

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-26461582, KAKENHI-PROJECT-25670475
  • [Journal Article] Enhanced chondrogenesis of induced pluripotent stem cells from patients with neonatal-onset multisystem inflammatory disease occurs via the caspase 1-independent cAMP/protein kinase A/CREB pathway2015

    • Author(s)
      Yokoyama, K. Ikeya, M. Umeda, K. Oda, H. Nodomi, S. Nasu, A. Matsumoto, Y. Izawa, K. Horigome, K. Kusaka, T. Tanaka, T. Saito, M. K. Yasumi, T. Nishikomori, R. Ohara, O. Nakayama, N. Nakahata, T. Heike, T. Toguchida, J.
    • Journal Title

      Arthritis Rheumatol

      Volume: 67 Issue: 1 Pages: 302-314

    • DOI

      10.1002/art.38912

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-PROJECT-24390263, KAKENHI-PROJECT-24390353, KAKENHI-PROJECT-24591507, KAKENHI-PROJECT-25461591, KAKENHI-PROJECT-26253062, KAKENHI-PROJECT-26670498, KAKENHI-PROJECT-15K15549
  • [Journal Article] Aicardi-Goutières syndrome is caused by IFIH1 mutations.2014

    • Author(s)
      Oda, H., Nakagawa, K., Abe, J., Awaya, T., Funabiki, M., Hijikata, A., Nishikomori, R., Funatsuka, M., Ohshima, Y., Sugawara, Y., Yasumi, T., Kato, H., Shirai, T., Ohara, O., Fujita, T., Heike, T.
    • Journal Title

      America Journal of Human Genetics

      Volume: 95 Issue: 1 Pages: 121-125

    • DOI

      10.1016/j.ajhg.2014.06.007

    • NAID

      120005460706

    • Peer Reviewed
    • Data Source
      KAKENHI-PLANNED-24115004, KAKENHI-PROJECT-24370046, KAKENHI-PROJECT-24390263, KAKENHI-PROJECT-25280109, KAKENHI-PROJECT-25670474
  • [Journal Article] A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.2014

    • Author(s)
      Abe J, Nakamura K, Nishikomori R, Kato M, Mitsuiki N, Izawa K, Awaya T, Kawai T, Yasumi T, Toyoshima I, Hasegawa K, Ohshima Y, Hiragi T, Sasahara Y, Suzuki Y, Kikuchi M, Osaka H, Ohya T, Ninomiya S, Fujikawa S, Akasaka M, Iwata N, Kawakita A, Funatsuka M, Shintaku H, Ohara O, Ichinose H, Heike T.
    • Journal Title

      Rheumatology

      Volume: 53 Issue: 3 Pages: 448-458

    • DOI

      10.1093/rheumatology/ket372

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23249056
  • [Journal Article] Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes.2014

    • Author(s)
      Nakagawa K, Kawai T, Umebayashi H, Takei S, Kobayashi N, Yashiro M, Kubota T, Koike R, Akuta N, Shimoyama K, Iwata N, Saito MK, Ohara O, Kambe N, Yasumi T, Izawa K, Kawai T, Heike T, Yagüe J, Nishikomori R, Aróstegui JI et al.
    • Journal Title

      Ann Rheum Dis.

      Volume: in press Issue: 3 Pages: 1-8

    • DOI

      10.1136/annrheumdis-2013-204361

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-23249056, KAKENHI-PROJECT-24390263, KAKENHI-PROJECT-24590681, KAKENHI-PROJECT-25460838, KAKENHI-PROJECT-25461591, KAKENHI-PROJECT-26253062
  • [Journal Article] Real-time single-cell imaging of protein secretion2014

    • Author(s)
      Yamagishi, M. Suzuki, N. Izawa, K. Nakahara, A. Mizuno, J. Shoji, S. Heike, T. Harada, Y. Nishikomori, R. Ohara, O.
    • Journal Title

      Sci Rep

      Volume: 4 Issue: 1 Pages: 4736-4736

    • DOI

      10.1038/srep04736

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-24390263, KAKENHI-PROJECT-25440074, KAKENHI-PUBLICLY-26115708, KAKENHI-PROJECT-26286028
  • [Journal Article] Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes.2013

    • Author(s)
      Nakagawa K, Gonzalez-Roca E, Souto A, Kawai T, Umebayashi H, Campistol JM, Cañellas J, Takei S, Kobayashi N, Callejas-Rubio JL, Ortego-Centeno N, Ruiz-Ortiz E, Rius F, Anton J, Iglesias E, Jimenez-Treviño S, Vargas C, Fernandez-Martin J, Calvo I, Hernández-Rodríguez J, Mendez M, Dordal MT, Basagaña M, Bujan S, Yashiro M, Kubota T, Koike R, Akuta N, Shimoyama K, Iwata N, Saito MK, Ohara O, Kambe N, Yasumi T, Izawa K, Kawai T, Heike T, Yagüe J, Nishikomori R, Aróstegui JI
    • Journal Title

      Ann Rheum Dis

    • Data Source
      KAKENHI-PROJECT-23249056
  • [Journal Article] Safety and efficacy of canakinumab in Japanese patients with phenotypes of cryopyrin-associated periodic syndrome as established in the first open-label, phase-3 pivotal study (24-week results)2013

    • Author(s)
      Imagawa T, Nishikomori R, Takada H, Takeshita S, Patel N, Kim D, Lheritier K, Heike T, Hara T, Yokota S
    • Journal Title

      Clin Exp Rheumatol

      Volume: 31 Pages: 302-309

    • Data Source
      KAKENHI-PROJECT-23249056
  • [Journal Article] Obvious optic disc swelling in a patient with cryopyrin-associated periodic syndrome2013

    • Author(s)
      Kawai M, Yoshikawa T, Nishikomori R, Heike T, Takahashi K
    • Journal Title

      Clin Ophthalmol

      Volume: 7 Pages: 1581-1585

    • Data Source
      KAKENHI-PROJECT-23249056
  • [Journal Article] Safety and efficacy of canakinumab in Japanese patients with phenotypes of cryopyrin-associated periodic syndrome as established in the first open-label, phase-3 pivotal study (24-week results)2013

    • Author(s)
      Imagawa, T. Nishikomori, R. Takada, H. Takeshita, S. Patel, N. Kim, D. Lheritier, K. Heike, T. Hara, T. Yokota, S.
    • Journal Title

      Clin Exp Rheumatol

      Volume: 31 Pages: 302-309

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24390263
  • [Journal Article] Guidance on the use of canakinumab in patients with cryopyrin-associated periodic syndrome in Japan2013

    • Author(s)
      Yokota S, Nishikomori R, Takada H, Kikuchi M, Nozawa T, Kanetaka T, Kizawa T, Miyamae T, Mori M, Heike T, Hara T, Imagawa T
    • Journal Title

      Mod Rheumatol

      Volume: 23 Pages: 425-429

    • NAID

      10031175900

    • Data Source
      KAKENHI-PROJECT-23249056
  • [Journal Article] Guidelines for the genetic diagnosis of hereditary recurrent fevers.2012

    • Author(s)
      Shinar, Y., L. Obici, I. Aksenti jevich, B. Bennetts, F. Austrup, I. Ceccherini, J. M. Costa, A. De Leener, M. Gattorno, U. Kania, I. Kone-Paut, S. Lezer, A. Livneh, I. Moix, R. Nishikomori, S. Ozen, L. Phylactou, L. Risom, D. Rowczenio, T. Sarkisian, M. E. van Gi jn, M. Witsch-Baumgartner, M. Morris, H. M. Hoffman, I. Touitou, and N. European Molecular Genetics Quality
    • Journal Title

      Ann Rheum Dis

      Volume: 71 Issue: 10 Pages: 1599-1605

    • DOI

      10.1136/annrheumdis-2011-201271

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24390263
  • [Journal Article] Characterization of NLRP3 variants in Japanese cryopyrin-associated periodic syndrome patients2012

    • Author(s)
      Ohnishi, H., T. Teramoto, H. Iwata, Z. Kato, T. Kimura, K. Kubota, R. Nishikomori, H. Kaneko, M. Seishima, and N. Kondo
    • Journal Title

      J Clin Immunol

      Volume: 32 Issue: 2 Pages: 221-9

    • DOI

      10.1007/s10875-011-9629-0

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21390310, KAKENHI-PROJECT-22591156, KAKENHI-PROJECT-24590185
  • [Journal Article] Induced pluripotent stem cells from CINCA syndrome patients as a model for dissecting somatic mosaicism and drug discovery2012

    • Author(s)
      Tanaka T., Takahashi K., Yamane M., Tomida S., Nakamura S., Oshima K., Niwa A., Nishikomori R., Kambe N., Hara H., Mitsuyama M., Morone N., Heuse J.E., Yamamoto T., Watanabe A., Sato-Otsubo A., Ozawa S., Asaka I., Heike T., Yamanaka S., Nak
    • Journal Title

      Blood

      Volume: 120(6) Issue: 6 Pages: 1299-308

    • DOI

      10.1182/blood-2012-03-417881

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22249042, KAKENHI-PROJECT-22390213, KAKENHI-PROJECT-22790283, KAKENHI-PROJECT-23310087, KAKENHI-PROJECT-23390280, KAKENHI-PROJECT-23657147, KAKENHI-PROJECT-24390263, KAKENHI-PROJECT-24590524, KAKENHI-PROJECT-24659496
  • [Journal Article] Detection of Base Substitution-Type Somatic Mosaicism of the NLRP3 Gene with> 99. 9% Statistical Confidence by Massively Parallel Sequencing2012

    • Author(s)
      Izawa, K., A. Hijikata, N. Tanaka, T. Kawai, M. K. Saito, R. Goldbach-Mansky, I. Aksentijevich, T. Yasumi, T. Nakahata, T. Heike, R. Nishikomori, and O. Ohara
    • Journal Title

      DNA Res

      Volume: 19 Issue: 2 Pages: 143-52

    • DOI

      10.1093/dnares/dsr047

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21390310, KAKENHI-PROJECT-22249042, KAKENHI-PROJECT-23657147, KAKENHI-PROJECT-24390263, KAKENHI-PROJECT-24659496
  • [Journal Article] Cryopyrin-associated Periodic Syndrome2012

    • Author(s)
      Aoyama, K., H. Amano, Y. Takaoka, R. Nishikomori, and O. Ishikawa
    • Journal Title

      ACase Report and Review of the Japanese Literature. Acta Derm Venereol

      Volume: 92 Issue: 4 Pages: 395-398

    • DOI

      10.2340/00015555-1322

    • NAID

      40017399781

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21390310
  • [Journal Article] Detection of base substitution-type somatic mosaicism of the NLRP3 gene with >99. 9% statistical confidence by massively parallel sequencing2012

    • Author(s)
      Izawa K, Hijikata A, Tanaka N, Kawai T, Saito MK, Goldbach-Mansky R, Aksentijevich I, Yasumi T, Nakahata T, Heike T, Nishikomori R, Ohara O
    • Journal Title

      DNA Res

      Volume: 19 Pages: 143-152

    • Data Source
      KAKENHI-PROJECT-23249056
  • [Journal Article] Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus.2012

    • Author(s)
      Abe J
    • Journal Title

      Rheumatology

      Volume: 52 Issue: 2 Pages: 406-408

    • DOI

      10.1093/rheumatology/kes181

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23249056, KAKENHI-PROJECT-24890095, KAKENHI-PROJECT-25670474
  • [Journal Article] The CD40-CD40L axis and IFN-γ play critical roles in Langhans giant cell formation2012

    • Author(s)
      Sakai H, Okafuji I, Nishikomori R, Abe J, Izawa K, Kambe N, Y asumi T, Nakahata T, Heike T
    • Journal Title

      Int Immunol

      Volume: 24 Issue: 1 Pages: 5-15

    • DOI

      10.1093/intimm/dxr088

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23390280, KAKENHI-PROJECT-24659496
  • [Journal Article] Induced pluripotent stem cells from CINCA syndrome patients as a model for dissecting somatic mosaicism and drug discovery2012

    • Author(s)
      Tanaka T, Takahashi K, Yamane M, Tomida S, Nakamura S, Oshima K, Niwa A, Nishikomori R, Kambe N, Hara H, Mitsuyama M, Morone N, Heuser JE, Yamamoto T, Watanabe A, Sato-Otsubo A, Ogawa S, Asaka I, Heike T, Yamanaka S, Nakahata T, Saito MK
    • Journal Title

      Blood

      Volume: 120 Pages: 1299-1308

    • Data Source
      KAKENHI-PROJECT-23249056
  • [Journal Article] An approach to the patients with cryopyrin-associated periodic syndrome (CAPS) : a new biologic response modifier, canakinumab2012

    • Author(s)
      Yokota S, Kikuchi M, Nozawa T, Kizawa T, Kanetaka T, Miyamae T, Mori MA, Nishikomori R, Takata H, Heike T, Hara T, Imagawa T
    • Journal Title

      Nihon Rinsho Meneki Gakkai Kaishi

      Volume: 35 Pages: 23-29

    • NAID

      10030465541

    • Data Source
      KAKENHI-PROJECT-23249056
  • [Journal Article] Novel mutations of MVK gene in Japanese family members affected with hyperimmunog lobulinemia D and periodic fever syndrome2011

    • Author(s)
      Mizuno, T., H. Sakai, R. Nishikomori, K. Oshima, O. Ohara, I. Hata, Y. Shigematsu, T. Ishige, K. Tamura, and H. Arakawa
    • Journal Title

      Rheumatol Int

      Volume: (in press) Issue: 12 Pages: 3761-3764

    • DOI

      10.1007/s00296-011-2225-z

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21390310, KAKENHI-PROJECT-23591561
  • [Journal Article] Rapid diagnosis of familial hemophagocytic lymphohistiocytosis type 3 (FHL3) by flow cytometric detection of intraplatelet Munc 13-4 protein.2011

    • Author(s)
      Murata Y., Yasumi T., Shirakawa R., Izawa K., Sakai H., Abe J., Tanaka N., Kawai T., Oshima K., Saito M., Nishikomori R., Ohara O.、Ishii E., Nakahata T., Horiuchi H., Heike T.
    • Journal Title

      Blood

      Volume: 118 Issue: 5 Pages: 1225-1230

    • DOI

      10.1182/blood-2011-01-329540

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22249042, KAKENHI-PROJECT-22390213, KAKENHI-PROJECT-22501009, KAKENHI-PROJECT-22591159, KAKENHI-PUBLICLY-23113702, KAKENHI-PUBLICLY-23121503
  • [Journal Article] インフラマソームの自発的活性化を病態とする自己炎症症候群2011

    • Author(s)
      神戸直智,佐藤貴史,西小森隆太
    • Journal Title

      生体の科学

      Volume: 62 Pages: 221-227

    • Data Source
      KAKENHI-PROJECT-23390280
  • [Journal Article] Patient with neonatal-onset chronic hepatitis presenting with mevalonate kinase deficiency with a novel MVK gene mutation2011

    • Author(s)
      Tahara, M., H. Sakai, R. Nishikomori, T. Yasumi, T. Heike, I. Nagata, A. Inui, T. Fujisawa, Y. Shigematsu, K. Nishijima, K. Kuwakado, S. Watabe, and J. Kameyama
    • Journal Title

      Modern rheumatology the Japan Rheumatism Association

      Volume: 21 Issue: 6 Pages: 641-645

    • DOI

      10.1007/s10165-011-0442-7

    • NAID

      10030206205

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21390310
  • [Journal Article] インフラマソームの自発的活性化を病態とする自己炎症症候群2011

    • Author(s)
      神戸直智, 佐藤貴史, 西小森隆太
    • Journal Title

      生体の科学

      Volume: 62 Pages: 221-7

    • Data Source
      KAKENHI-PROJECT-23390280
  • [Journal Article] Familial cases of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis syndrome2011

    • Author(s)
      Adachi, M., A. Watanabe, A. Nishiyama, Y. Oyazato, I. Kamioka, M. Murase, A. Ishida, H. Sakai, R. Nishikomori, and T. Heike
    • Journal Title

      The Journal of pediatrics

      Volume: 158 Issue: 1 Pages: 155-9

    • DOI

      10.1016/j.jpeds.2010.09.054

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21390310
  • [Journal Article] High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome2011

    • Author(s)
      Tanaka N, Izawa K, Saito MK, Sakuma M, Oshima K, Ohara O, Nishikomori R, Morimoto T, Kambe N, Goldbach-Mansky R, Aksentijevich I, de Saint Basile G, Neven B, van Gijn M, Frenkel J, Arostegui JI, Yague J, Merino R, Ibanez M, Pontillo A, Takada H, Imagawa T
    • Journal Title

      Arthritis Rheum

      Volume: 63 Issue: 11 Pages: 3625-32

    • DOI

      10.1002/art.30512

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21390310, KAKENHI-PROJECT-21591363, KAKENHI-PUBLICLY-22021049, KAKENHI-PROJECT-22249042, KAKENHI-PROJECT-22390213, KAKENHI-PROJECT-23249056
  • [Journal Article] High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome2011

    • Author(s)
      Tanaka N, Izawa K, Saito MK, Sakuma M, Oshima K, Tanaka N, Izawa K, Saito MK, Sakuma M, Oshima K, Ohara O, Nishikomori R, Morimoto T, Kambe N, Goldbach-Mansky R, Aksentijevich I, de Saint Basile G, Neven B, van Gijn M, Frenkel J, Aróstegui JI, Yagüe J, Merino R, Ibañez M, Pontillo A, Takada H, Imagawa T, Kawai T, Yasumi T, Nakahata T, Heike T
    • Journal Title

      International Multicenter Collaborative Study

      Volume: 63 Pages: 3625-3632

    • Data Source
      KAKENHI-PROJECT-23249056
  • [Journal Article] Patient with neonatal-onset chronic hepatitis presenting with mevalonate kinase deficiency with a novel MVK gene mutation2011

    • Author(s)
      Tahara M, Sakai H, Nishikomori R, Yasumi T, Heike T, Nagata I, Inui A, Fujisawa T, Shigematsu Y, Nishijima K, Kuwakado K, Watabe S, Kameyama J
    • Journal Title

      Mod Rheumatol

      Volume: 21 Pages: 641-645

    • NAID

      10030206205

    • Data Source
      KAKENHI-PROJECT-23249056
  • [Journal Article] Enhanced NF-kappaB activation with an inflammasome activator correlates with activity of autoinflammatory disease associated with NLRP3 mutations outside of exon 3 : comment on the article by Jeru et al.2010

    • Author(s)
      Kambe, N., T.Satoh, H.Tanizaki, A.Fujisawa, M.K.Saito, R.Nishikomori
    • Journal Title

      Arthritis Rheum

      Volume: 62 Pages: 3124-3125

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21390310
  • [Journal Article] The inflammasome, an innate immunity guardian, participates in skin urticarial reactions and contact hypersensitivity.2010

    • Author(s)
      Kambe, N., Y Nakamura, M.Saito, R.Nishikomori
    • Journal Title

      Allergol Int

      Volume: 59 Pages: 105-113

    • NAID

      10029669779

    • Data Source
      KAKENHI-PROJECT-21390310
  • [Journal Article] Enhanced NF-kappa activation with aninflammasome activator correlates with activity of auto inflammatory disease associated with NLRP3 mutations outside of exon 32010

    • Author(s)
      Kambe, N., Satoh, T., Tanizaki, H., Fujisawa, A., Saito, M. K. & Nishikomori, R
    • Journal Title

      Arthritis Rheum

      Volume: 62 Issue: 10 Pages: 3124-3125

    • DOI

      10.1002/art.27619

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21390310
  • [Journal Article] Mast cells mediate neutrophil recruitment and vascular leakage through the NLRP3 inflammasome in histamine-independent urticaria2009

    • Author(s)
      Nakamura Y, Kambe N, Saito M, Nishikomori R, Kim YG, Murakami M, Nunez G, Matsue H.
    • Journal Title

      J Exp Med (in press)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591303
  • [Journal Article] Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis2009

    • Author(s)
      Okafuji I, anishikomori R, Kanazawa N, Kambe N, et al.
    • Journal Title

      Arthritis Rheum 60

      Pages: 242-250

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591303
  • [Journal Article] Role of NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis2009

    • Author(s)
      Okafuji I., R. Nishikomori, N. Kanazawa, N. Kambe, A. Fujisawa, S. Yamazaki, M. Saito, T. Yoshioka, T. Kawai, H. Sakai, H. Tanizaki, T. Heike, Y. Miyachi, T. Nakahata
    • Journal Title

      Arthritis Rheum 60

      Pages: 242-250

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591249
  • [Journal Article] Cardiac infiltration in early-on setsarcoi dosis 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

      CARD15 Rheumatology(Oxford)

      Volume: 48 Issue: 6 Pages: 706-707

    • DOI

      10.1093/rheumatology/kep061

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21390310
  • [Journal Article] Mast cells mediate neutrophil recruitment and vascular leakage through the NLRP3 inflammasome in histamine-independent urticaria2009

    • Author(s)
      Nakamura, Y., Kambe, N., Saito, M., Nishikomori, R., Kim, Y. G., Murakami, M., Nunez, G. & Matsue, H.
    • Journal Title

      J Exp Med

      Volume: 206 Issue: 5 Pages: 1037-1046

    • DOI

      10.1084/jem.20082179

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21390310, KAKENHI-PROJECT-21390324
  • [Journal Article] Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis2009

    • Author(s)
      Okafuji, I., Nishikomori, R., Kanazawa, N., Kambe, N., Fujisawa, A., Yamazaki, S., Saito, M., Yoshioka, T., Kawai, T., Sakai, H., Tanizaki, H., Heike, T., Miyachi, Y. & Nakahata, T.
    • Journal Title

      Arthritis Rheum

      Volume: 60 Issue: 1 Pages: 242-250

    • DOI

      10.1002/art.24134

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21390310
  • [Journal Article] Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis2009

    • Author(s)
      Okafuji I, Nishikomori R, Kanazawa N, Kambe N, Fujisawa A, Yamazaki S, Saito M, Yoshioka T, Kawai T, Sakai H, Tanizaki H, Heike T, Miyachi Y, Nakahata T.
    • Journal Title

      Arthritis Rheum 60

      Pages: 242-250

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591303
  • [Journal Article] Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin associated periodic syndrome patients2008

    • Author(s)
      Saito, M., R. Nishikomori, N. Kambe, A. Fujisawa, H. Tanizaki, K. Takeichi, T. Imagawa, T. Iehara, H. Takada, T. Matsubayashi, H. Tanaka, H. Kawashima, K. S. Kagami, I. Okafuji, T. Yoshioka, S. Adachi, T. Heike, Y. Miyachi, T. Nakahata
    • Journal Title

      Blood 111

      Pages: 2132-2141

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591249
  • [Journal Article] Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-associated periodic syndrome patients2008

    • Author(s)
      Saito M, Nishikomori R, Kambe N, Fujisawa A, Tanizaki H, Takeichi K, Imagawa T, Iehara T, Takada H, Matsubayashi T, Tanaka H, Kawashima H, Kawakami K, Kagami S, Okafuji I, Yoshioka T, Adachi S, Heike T, Miyachi Y, Nakahata T.
    • Journal Title

      Blood 111

      Pages: 2132-41

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591303
  • [Journal Article] A CIAS1 mutation in a Japanese girl with familial cold autoinflammatory syndrome2008

    • Author(s)
      Kanegane H., T. Itazawa, M. Saito, R. Nishikomori, T. Makino, T. Shimizu, Y. Adachi, T. Nakahata, and T. Miyawaki
    • Journal Title

      Eur J Pediatr 267

      Pages: 245-247

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591249
  • [Journal Article] Disease-associated CIAS1 mutations induce monocyte death,revealing low-level mosaicism in mutation-negative cryopyrin-associated periodic syndrome patients2008

    • Author(s)
      Saito M, Nishikomori R, Kambe N, et. al.
    • Journal Title

      Blood 111

      Pages: 2132-41

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591303
  • [Journal Article] Disease-associated mutations in CIAS1 induce cathepsin B-dependent rapid cell death of human THP-1 monocytic cells2007

    • Author(s)
      Fujisawa A, Kambe N, Saito M, Nishikomori R, Tanizaki H, Kanazawa N, Adachi S, Heike T, Sagara J, Suda T, Nakahata T, Miyachi Y.
    • Journal Title

      Blood 109

      Pages: 2903-11

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591303
  • [Journal Article] Disease-associated mutations in CIAS1 induce cathepsin B-dependent rapid cell death of human THP-1 monocytic cells2007

    • Author(s)
      Fujisawa A., N. Kambe, M. Saito, R. Nishikomori, H. Tanizaki, N. Kanazawa, S. Adachi, T. Heike, J. Sagara, T. Suda, T. Nakahata and Y. Miyachi
    • Journal Title

      Blood 109

      Pages: 2903-2911

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591249
  • [Journal Article] Familial hemophagocytic lymphohistiocytosis with the MUNC13-4 mutation : a case report.2006

    • Author(s)
      Mizumoto H, Hata D, Yamamoto K.Shirakawa R, Kumakura A, Shiota M, Yokoyama A, Matsubara H, Kobayashi M, Nishikomori R, Adachi S, Nakahata T, Kita T, Horiuchi H, Yasukawa M, Ishii E.
    • Journal Title

      Eur J Pediatr. 14

      Pages: 1-5

    • Data Source
      KAKENHI-PROJECT-16590980
  • [Journal Article] The cytosolic pattern-recognition receptor Nod2 and inflammatory granulomatous disorders.2005

    • Author(s)
      Kambe N, Nishikomori R, Kanazawa N.
    • Journal Title

      J Dermatol Sci. 39(2)

      Pages: 71-80

    • NAID

      10018031497

    • Data Source
      KAKENHI-PROJECT-16590980
  • [Journal Article] SPINK5 polymorphism is associated with disease severity and food allergy in children with atopic dermatitis.2005

    • Author(s)
      Kusunoki, T., Okafuji I., Yoshioka T., Saito M., Nishikomori R., Heike T., Shimizu A., Nakahata T.
    • Journal Title

      J.Allergy Clin.Immunol 115

      Pages: 636-638

    • Data Source
      KAKENHI-PROJECT-13GS0009
  • [Journal Article] SPINK5 polymorphism is associated with disease severity and food allergy in children with atopic dermatitis.2005

    • Author(s)
      Kusunoki T, Okafuji I, Yoshioka T, Saito M, Nishikomori R, Heike T, Sugai M, Shimizu A, Nakahata T.
    • Journal Title

      J Allergy Clin Immunol. 115(3)

      Pages: 636-638

    • Data Source
      KAKENHI-PROJECT-16590980
  • [Journal Article] Somatic mosaicism of CIASI in a patient with chronic infantile neurologic, cutaneous, articular syndrome.2005

    • Author(s)
      Saito M, Fujisawa A, Nishikomori R, Kambe N, Nakata-Hizume M, Yoshimoto M, Ohmori K, Okafuji I, Yoshioka T, Kusunoki T, Miyachi Y, Heike T, Nakahata T.
    • Journal Title

      Arthritis Rheum. 52(11)

      Pages: 3579-3585

    • Data Source
      KAKENHI-PROJECT-16590980
  • [Journal Article] Early-onset sarcoidosis and CARD15 mutations : common genetic etiology with Blau syndrome.2005

    • Author(s)
      Kanazawa N., Nishikomori R., Kambe N., Nakata-Hizume M., Okafuji I., Nagai S., Fuji A., Yuasa T., Utani A., Manki A., Sakurai Y., Nakajima M., Kobayashi H., Nishigori C., Heike T., Nakahata T., Miyachi Y.
    • Journal Title

      Blood 105

      Pages: 1195-1197

    • Data Source
      KAKENHI-PROJECT-13GS0009
  • [Journal Article] Limited ability of antigen-specific Th1 responses to inhibit Th2 cell development in vivo.2005

    • Author(s)
      Yasumi T, Katamura K., Okafuji I., Yoshioka T., Meguro T., Nishikomori R., Kusunoki T., Heike T., Nakahata T.
    • Journal Title

      J.Immunol. 177

      Pages: 1325-1331

    • Data Source
      KAKENHI-PROJECT-13GS0009
  • [Journal Article] X-linked ectodermal dysplasia and immunodeficiency caused by reversion m saicism of NEMO reveals a critical role for NEMO in human T-cell development and/or survival.2004

    • Author(s)
      Nishikomori, R.
    • Journal Title

      Blood 103

      Pages: 4565-4565

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16591025
  • [Journal Article] X-linked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T-cell development and/or survival2004

    • Author(s)
      Nishikomori, R
    • Journal Title

      Blood 103

      Pages: 4565-4565

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16591025
  • [Journal Article] X-linked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role of NEMO in human T-cell development and/or survival.2004

    • Author(s)
      Nishikomori, R. et al.
    • Journal Title

      Blood 103・12

      Pages: 4565-4572

    • Data Source
      KAKENHI-PROJECT-16591025
  • [Journal Article] X-linked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T-cell development and/or survival2004

    • Author(s)
      Nishikomori R, Heike T et al.
    • Journal Title

      Blood 103

      Pages: 4565-4572

    • Data Source
      KAKENHI-PROJECT-15039219
  • [Journal Article] X-linked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T-cell development and/or survival.2004

    • Author(s)
      Nishikomori R., Akutagawa H., Maruyama K., Nakata-Hizume M., Ohmori K., Mizuno K., Yachie A., Yasumi T., Kusunoki T., Heike T., Nakahata T.
    • Journal Title

      Blood 103

      Pages: 4565-4572

    • Data Source
      KAKENHI-PROJECT-13GS0009
  • [Journal Article] Development of both human connective tissue-type and mucosal-type mast cells in mice from hematopoietic stem cells with identical distribution pattern to human body.2004

    • Author(s)
      Kambe N., Hiramatsu H., Shimonaka M., Fujino H., Nishikomori R., Heike T., Ito M., Kobayashi K., Ueyama Y., Matsuyoshi N., Miyachi Y., Nakahata T.
    • Journal Title

      Blood 103

      Pages: 860-867

    • Data Source
      KAKENHI-PROJECT-13GS0009
  • [Patent] 軟骨過形成疾患の予防および治療剤ならびにそのスクリーニング方法2014

    • Inventor(s)
      戸口田 淳也/西小森 隆太/横山 宏司/池谷 真/平家 俊男
    • Industrial Property Rights Holder
      戸口田 淳也/西小森 隆太/横山 宏司/池谷 真/平家 俊男
    • Industrial Property Rights Type
      特許
    • Industrial Property Number
      2014-227500
    • Filing Date
      2014-11-07
    • Data Source
      KAKENHI-PROJECT-24390263
  • [Patent] 軟骨過形成疾患の予防および治療剤ならびにそのスクリーニング方法2014

    • Inventor(s)
      戸口田 淳也/西小森 隆太/横山 宏司/池谷 真/平家 俊男
    • Industrial Property Rights Holder
      戸口田 淳也/西小森 隆太/横山 宏司/池谷 真/平家 俊男
    • Industrial Property Rights Type
      特許
    • Industrial Property Number
      2014-227500
    • Filing Date
      2014-11-07
    • Data Source
      KAKENHI-PROJECT-26253062
  • [Presentation] 自己炎症性疾患ガイドライン2023

    • Author(s)
      西小森隆太
    • Organizer
      第55回日本小児感染症学会総会・学術集会.
    • Data Source
      KAKENHI-PROJECT-22K07829
  • [Presentation] 自己炎症性疾患の診断とその対応2023

    • Author(s)
      西小森隆太
    • Organizer
      第122回日本皮膚科学会総会
    • Data Source
      KAKENHI-PROJECT-22K07829
  • [Presentation] iPS細胞ミクログリアを用いたAicardi-Goutieres症候群の中枢神経免疫病態の解析2023

    • Author(s)
      粟屋智就, 齋藤潤, 西小森隆太, 萩原正敏
    • Organizer
      第65回日本小児神経学会学術集会
    • Data Source
      KAKENHI-PROJECT-22K07829
  • [Presentation] 自己炎症性症候群の診療の実際2022

    • Author(s)
      西小森隆太
    • Organizer
      第66回日本リウマチ学会総会・学術集会
    • Data Source
      KAKENHI-PROJECT-22K07829
  • [Presentation] プライマリケアにおける不明熱への対応2022

    • Author(s)
      西小森隆太
    • Organizer
      第31回日本外来小児科学会年次集会
    • Data Source
      KAKENHI-PROJECT-22K07829
  • [Presentation] 痛風発作をより深く理解するために 痛風発作の炎症機序、インフラマソーム2022

    • Author(s)
      西小森隆太
    • Organizer
      第55回日本痛風・尿酸核酸学会総会
    • Data Source
      KAKENHI-PROJECT-22K07829
  • [Presentation] 小児自己免疫性肝疾患の新規バイオマーカーと病因遺伝子の探索研究(JPAILD Study)の立ち上げ2022

    • Author(s)
      水落建輝,津村直弥,加藤 健,安田亮輔,西小森隆太,小原 収,JPAILD Study Investigators.
    • Organizer
      第38回日本小児肝臓研究会
    • Data Source
      KAKENHI-PROJECT-21K07832
  • [Presentation] 難病レジストリ研究の進捗状況 本邦における自己炎症性症候群のレジストリ研究2022

    • Author(s)
      西小森隆太
    • Organizer
      第66回日本リウマチ学会総会・学術集会
    • Data Source
      KAKENHI-PROJECT-22K07829
  • [Presentation] Year in Review Basics 2019-20212021

    • Author(s)
      西小森隆太
    • Organizer
      第30回日本小児リウマチ学会総会・学術集会
    • Invited
    • Data Source
      KAKENHI-PROJECT-19K08299
  • [Presentation] 自己炎症性症候群の診療の実際2021

    • Author(s)
      西小森隆太
    • Organizer
      第65回日本リウマチ学会総会・学術集会
    • Invited
    • Data Source
      KAKENHI-PROJECT-19K08299
  • [Presentation] 自己炎症性症候群のアニュアルエビデンスレビュー2021

    • Author(s)
      西小森隆太
    • Organizer
      第48回日本臨床免疫学会総会
    • Invited
    • Data Source
      KAKENHI-PROJECT-19K08299
  • [Presentation] 自然免疫が関連する炎症性疾患 インフラマソーム関連自己炎症性症候群2021

    • Author(s)
      西小森隆太
    • Organizer
      第65回日本リウマチ学会総会・学術集会
    • Data Source
      KAKENHI-PROJECT-19K08299
  • [Presentation] 家族性地中海熱とパイリン関連自己炎症性疾患.2021

    • Author(s)
      西小森隆太
    • Organizer
      第32回 中部リウマチ学会
    • Invited
    • Data Source
      KAKENHI-PROJECT-19K08299
  • [Presentation] RAS-associated leukoproliferative disease with rashes lacking autoantibodies.2020

    • Author(s)
      Saho Shima, Ryuta Nishikomori, Jun Araki, Ayuko Zaitsu, Seiji Tanaka, Shuichi Ozono, Yushiro Yamashita.
    • Organizer
      22nd Asia-Pacific League of Associations for Rheumatology
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-19K08299
  • [Presentation] A case report of Hermansky-Pudlak type 2 in comparison with Hermansky-Pudlak type 1 in onePID center.2020

    • Author(s)
      西小森隆太, 渡邊順子, 田中征治, 島さほ, 北城恵史郎, 水落建輝, 石原潤, 柴田洋史, 八角高裕, 井澤和司, 岡村賢, 林昌弘, 鈴木民夫, 田代克弥, 冨野広通, 江頭智子, 高柳俊光, 山下裕史朗.
    • 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-19K08299
  • [Presentation] 免疫疾患の遺伝的背景 新規機能解析系によるMEFVバリアントの病原性評価・分類の試み.2020

    • Author(s)
      前田由可子, 本田吉孝, 井澤和司, 芝 剛, 田中孝之, 東口素子, 加藤健太郎, 宮本尚幸, 伊佐真彦[西谷], 仁平寛士, 柴田洋史, 日衛嶋栄太郎, 滝田順子, 西小森隆太.
    • Organizer
      第43回日本臨床免疫学会総会
    • Data Source
      KAKENHI-PROJECT-19K08299
  • [Presentation] リウマチ学領域の難病研究の最新情2019

    • Author(s)
      西小森隆太
    • Organizer
      第63回日本リウマチ学会総会・学術集会
    • Data Source
      KAKENHI-PROJECT-19K08299
  • [Presentation] Precision medicine 小児免疫アレルギー疾患での取り組み2019

    • Author(s)
      西小森隆太
    • Organizer
      第68回日本アレルギー学会学術大会
    • Data Source
      KAKENHI-PROJECT-19K08299
  • [Presentation] 大学院を、小児科医キャリア形成の中で、どう位置づけ、どう活用するか フロントランナーからのメッセージ ケーススタディ 大学院教育の小児科医師におけるインパクト2017

    • Author(s)
      西小森隆太
    • Organizer
      第120回 日本小児科学会総会
    • Data Source
      KAKENHI-PROJECT-15H04876
  • [Presentation] 自己炎症性疾患 病態と治療 PFSを中心に2017

    • Author(s)
      西小森隆太
    • Organizer
      第60回 日本リウマチ学会総会
    • Data Source
      KAKENHI-PROJECT-15H04876
  • [Presentation] 知っておきたい稀少疾患 自己炎症性疾患 特に蕁麻疹様発疹をきたす疾患2017

    • Author(s)
      西小森隆太
    • Organizer
      第34回 日本小児難治喘息・アレルギー疾患学会総会
    • Invited
    • Data Source
      KAKENHI-PROJECT-15H04876
  • [Presentation] 小児免疫疾患における分子標的薬2016

    • Author(s)
      西小森隆太
    • Organizer
      日本臨床免疫学会
    • Place of Presentation
      東京
    • Year and Date
      2016-09-08
    • Data Source
      KAKENHI-PROJECT-15H04876
  • [Presentation] PFAPAの臨床像で発症し、長期経過後に腸管炎症、陰部潰瘍を合併したため診断に至った孤発性のTNFA1P3異常症の1例2016

    • Author(s)
      本田吉孝, 河合朋樹, 西小森隆太, 八角高裕, 井澤和司, 日衛嶋栄太郎, 中川権史, 柴田洋史, 下寺佐栄子, 大音泰介, 芝剛, 仁平寛士, 小田紘嗣, 小原收, 平家俊男
    • Organizer
      小児リウマチ学会
    • Place of Presentation
      千葉
    • Year and Date
      2016-10-21
    • Data Source
      KAKENHI-PROJECT-15H04876
  • [Presentation] 本邦でのメバロン酸キナーゼ欠損症のまとめ2016

    • Author(s)
      田中孝之, 西小森隆太, 中川権史, 井澤和司, 河合朋樹, 八角高裕, 平家俊男
    • Organizer
      日本リウマチ学会
    • Place of Presentation
      横浜
    • Year and Date
      2016-04-21
    • Data Source
      KAKENHI-PROJECT-15H04876
  • [Presentation] Aicardi-Gouti&#232;res syndrome: Type I interferonopathy2015

    • Author(s)
      R. Nishikomori
    • Organizer
      Pediatric Academic Societies Meeting
    • Place of Presentation
      San Diego, USA
    • Year and Date
      2015-04-25
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-25670474
  • [Presentation] 本邦でのメバロン酸キナーゼ欠損症のまとめ2015

    • Author(s)
      田中孝之, 吉岡耕平, 酒井秀政, 西小森隆太, 阿部純也, 日衛嶋栄太郎, 小原收, 河合朋樹, 八角高裕, 平家俊男
    • Organizer
      日本小児リウマチ学会総会
    • Place of Presentation
      金沢
    • Year and Date
      2015-10-09
    • Data Source
      KAKENHI-PROJECT-15H04876
  • [Presentation] 自己炎症性症候群アップデート.2015

    • Author(s)
      西小森隆太
    • Organizer
      第59回日本リウマチ学会総会
    • Place of Presentation
      名古屋
    • Year and Date
      2015-04-23
    • Invited
    • Data Source
      KAKENHI-PROJECT-25670474
  • [Presentation] Understanding the pathophysiology of NOMID arthropathy for drug discovery by iPSCs technology.2015

    • Author(s)
      Nakagawa K., Okuno Y., Nishikomori R., Yokoyama K., Tanaka T., Kawai T., Yasumi T., Umeda K., Nakayama N., Toguchida J., Hagiwara M., Heike T.
    • Organizer
      8th International Society of Systemic Autoinflammatory Diseases Meeting 2015 (2015)
    • Place of Presentation
      Dresden, Germany
    • Year and Date
      2015-09-29
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H04876
  • [Presentation] Muckle-Wells症候群におけるNLRP3体細胞モザイク変異の検討2014

    • Author(s)
      中川権史、西小森隆太、他11名
    • Organizer
      第37回日本小児遺伝学会
    • Place of Presentation
      名古屋
    • Year and Date
      2014-04-10
    • Data Source
      KAKENHI-PROJECT-24390263
  • [Presentation] Aicardi-Goutieres syndrome is caused by IFIH1 mutations2014

    • Author(s)
      Oda, H. Nakagawa, K. Abe, J. Awaya, T. Funabiki, M. Hijikata, A. Nishikomori, R. Funatsuka, M. Ohshima, Y. Sugawara, Y. Yasumi, T. Kato, H. Shirai, T. Ohara, O. Fujita, T. Heike, T.
    • Organizer
      American Society of Human Genetics
    • Place of Presentation
      San Diego, USA
    • Year and Date
      2014-10-09
    • Data Source
      KAKENHI-PROJECT-24390263
  • [Presentation] Aicardi-Goutieres syndrome is caused by IFIH1 mutations2014

    • Author(s)
      Oda, H. Nakagawa, K. Abe, J. Awaya, T. Funabiki, M. Hijikata, A. Nishikomori, R. Funatsuka, M. Ohshima, Y. Sugawara, Y. Yasumi, T. Kato, H. Shirai, T. Ohara, O. Fujita, T. Heike, T.
    • Organizer
      Ameriacan Society of Human Genetics
    • Place of Presentation
      San Diego, USA
    • Year and Date
      2014-10-19
    • Data Source
      KAKENHI-PROJECT-25670474
  • [Presentation] Understanding the pathology of the arthropathy in chronic infantile neurological cutaneous and articular syndrome by using iPS cells technology2013

    • Author(s)
      横山宏司、西小森隆太、池谷真、那須輝、田中孝之、齋藤潤、梅田雄嗣、中畑龍俊、平家俊男、戸口田淳也
    • Organizer
      第28回日本整形外科学会基礎学術集会
    • Place of Presentation
      千葉
    • Data Source
      KAKENHI-PROJECT-24390263
  • [Presentation] 若年発症サルコイドーシスへの治療介入時の評価項目としての関節エコーの有用性2013

    • Author(s)
      神戸直智, 佐藤貴史, 中野倫代, 松江弘之, 池田 啓, 西小森隆太, 金澤伸雄, 武井修治
    • Organizer
      第65回日本皮膚科学会西部支部学術大会
    • Place of Presentation
      鹿児島市
    • Data Source
      KAKENHI-PROJECT-23390280
  • [Presentation] 患者由来iPS細胞を用いたCINCA症候群における関節病態の分子機構の解明2013

    • Author(s)
      横山宏司、西小森隆太、池谷真、那須輝、田中孝之、齋藤潤、梅田雄嗣、中畑龍俊、平家俊男、戸口田淳也
    • Organizer
      第34回日本炎症再生医学会
    • Place of Presentation
      京都
    • Data Source
      KAKENHI-PROJECT-24390263
  • [Presentation] Muckle-Wells症候群におけるNLRP3体細胞モザイク変異の検討2013

    • Author(s)
      中川権史、西小森隆太、井澤和司、河合朋樹、八角高裕、河合利尚、梅林宏明、武井修治、小林法元、小原收、Eva Gonzalez-Roca、Juan I. Arostegui、平家俊男
    • Organizer
      第23回日本小児リウマチ学会総会
    • Place of Presentation
      大宮
    • Data Source
      KAKENHI-PROJECT-24390263
  • [Presentation] Diagnosis of nlrp3 somatic mosaicism incinca/nomid patients using next-generation sequencing : Poster Session, Board P292 : 18thEuropean Pediatric Rheumatology Congress2011

    • Author(s)
      K. Izawa, A. Hijikata, R. Nishikomori, O. Ohara, J. Abe, N. Tanaka, M. K. Saito, R. Goldbach-Mansky, I. Aksentijevich, T. Kawai, T. Yasumi, T. Nakahata, T. Heike
    • Organizer
      September
    • Place of Presentation
      Bruges, Belgium
    • Data Source
      KAKENHI-PROJECT-21390310
  • [Presentation] 原発性免疫不全症における臨床遺伝学日本における自己炎症疾患における遺伝子診断について2011

    • Author(s)
      西小森隆太, 他
    • Organizer
      遺伝医学合同学術集会2011
    • Place of Presentation
      京都大学百周年時計台記念館、京都(招待講演)
    • Year and Date
      2011-06-17
    • Data Source
      KAKENHI-PROJECT-21390310
  • [Presentation] Rapid detection ofNLRP3 somatic mosaicism using next-generation sequencing2011

    • Author(s)
      井澤和司、西小森隆太、八角高裕、平家俊男、土方敦司、小原收
    • Organizer
      第56回日本人類遺伝学会・第11回東アジア人類遺伝学会共同大会
    • Place of Presentation
      千葉
    • Data Source
      KAKENHI-PROJECT-21390310
  • [Presentation] NLRP3体細胞モザイクはCINCA症候群の25%以上に認められる2011

    • Author(s)
      田中尚子、井澤和司、斎藤潤、作間未織、大嶋宏一、小原収、西小森隆太、森本剛、中畑龍俊、平家俊男
    • Organizer
      第114回日本小児科学会学術集会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-21390310
  • [Presentation] NLRP3 体細胞モザイクは CINCA 症候群の 25%以上に認められる2011

    • Author(s)
      田中尚子, 井澤和司, 西小森隆太, 神戸直智, 河合朋樹, 酒井秀政, 八角高裕, 平家俊男
    • Organizer
      第55回日本リウマチ学会総会・学術集会
    • Place of Presentation
      神戸市
    • Data Source
      KAKENHI-PROJECT-23390280
  • [Presentation] High incidence of nlrp3 somatic mosaicism in chronic infantile neurological cutaneous andarticular syndrome patients : a report from an international multicenter collaborative study2011

    • Author(s)
      R. Nishikomori, N. Tanikaze, K. Izawa, M. K. Saito, R. Goldbach-ManskyI. Aksentijevich, G. de Saint Basile, B. Neven, J. Frenkel, M. Van Gijn, J. I. Arostegui, J. Yague, T. Morimoto, M. Sakuma, N. Kambe, T. Yasumi, T. Kawai, A. Pontillo, K. Oshima, H. Tak
    • Organizer
      OP0142 : Annual European Congress of Rheumatology EULAR
    • Place of Presentation
      London, United Kingdom
    • Data Source
      KAKENHI-PROJECT-21390310
  • [Presentation] "炎症"病態の観点から見た小児疾患 自己炎症性疾患における炎症病態 NLRP3遺伝子を中心にして2010

    • Author(s)
      西小森隆太
    • Organizer
      第113回日本小児科学会総会
    • Place of Presentation
      盛岡(招待講演)
    • Data Source
      KAKENHI-PROJECT-21390310
  • [Presentation] 炎症病態の観点から見た小児疾患自己炎症疾患における炎症病態NLRP3遺伝子を中心にして2010

    • Author(s)
      西小森隆太
    • Organizer
      第113回日本小児科学会総会
    • Place of Presentation
      盛岡
    • Data Source
      KAKENHI-PROJECT-21390310
  • [Presentation] サイトカインを標的にした病態の制御の可能性抗IL-1療法2010

    • Author(s)
      西小森隆太
    • Organizer
      第30回日本炎症・再生医学会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-21390310
  • [Presentation] 自己炎症症候群の新しい展開"NLRP3変異陰性"CINCA症候群/NOMIDにおけるNLRP3モザイシズムについて2010

    • Author(s)
      西小森隆太
    • Organizer
      第55回日本リウマチ学会総会
    • Place of Presentation
      神戸(招待講演)
    • Data Source
      KAKENHI-PROJECT-21390310
  • [Presentation] サイトカインを標的とした病態制御の可能性抗IL-1療法2010

    • Author(s)
      西小森隆太
    • Organizer
      第30回日本炎症・再生医学会
    • Place of Presentation
      東京(招待講演)
    • Data Source
      KAKENHI-PROJECT-21390310
  • [Presentation] 自己炎症性疾患の病態とシグナル伝達2009

    • Author(s)
      西小森隆太
    • Organizer
      第41回日本小児感染症学会
    • Place of Presentation
      福井
    • Year and Date
      2009-11-14
    • Data Source
      KAKENHI-PROJECT-21390310
  • [Presentation] 小児リウマチ疾患に対する分子標的治療薬の適応CINCA症候群に対する抗IL-1療法について2009

    • Author(s)
      西小森隆太
    • Organizer
      第53回日本リウマチ学会総会
    • Place of Presentation
      東京
    • Year and Date
      2009-04-24
    • Data Source
      KAKENHI-PROJECT-21390310
  • [Presentation] 小児リウマチ性疾患に対する分子標的治療薬の適応CINCA症候群に対する抗IL-1療法について2009

    • Author(s)
      西小森隆太
    • Organizer
      第53回日本リウマチ学会総会
    • Place of Presentation
      東京
    • Year and Date
      2009-04-24
    • Data Source
      KAKENHI-PROJECT-21390310
  • [Presentation] A case of early-onset sarcoidosis who showed spontaneous regression of his clinical manifestations but inherited skin eruption to his baby : What should we call this systemic inflammatory granulomatosis associated with NOD2 mutation2008

    • Author(s)
      Kambe N, Nakamura Y, Okafuji I, Nishikomori R, Kanazawa N, Matsue H.
    • Organizer
      V International Congress on Familial Mediterranean Fever and Systemic Autoinflammatory Diseases
    • Place of Presentation
      Rome, Itary
    • Data Source
      KAKENHI-PROJECT-19591303
  • [Presentation] Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-associated periodic syndrome patients2007

    • Author(s)
      Saito M.,R. Nishikomori, N. Kambe, A. Fujisawa, H. Tanizaki, T. Kawai, H. Sakai, I. Okafuji, T. Yoshioka, S. Adachi, T. Heike, Y. Miyachi, T. Nakahata
    • Organizer
      71st ACR annual meeting
    • Place of Presentation
      Boston MA
    • Year and Date
      2007-11-10
    • Data Source
      KAKENHI-PROJECT-19591249
  • [Presentation] アナキンラをもちいて治療をおこなった高IgD症候群の2例

    • Author(s)
      下寺佐栄子、西小森隆太、吉岡耕平、河合朋樹、八角高裕、平家俊男
    • Organizer
      第24回小児リウマチ学会
    • Place of Presentation
      仙台
    • Year and Date
      2014-10-03 – 2014-10-05
    • Data Source
      KAKENHI-PROJECT-24390263
  • [Presentation] インフラマソーム

    • Author(s)
      西小森隆太、中川権史、横山宏司、平家俊男
    • Organizer
      第43回日本臨床免疫学会
    • Place of Presentation
      東京
    • Year and Date
      2014-09-25 – 2014-09-27
    • Data Source
      KAKENHI-PROJECT-24390263
  • [Presentation] 罹患者由来iPS細胞を用いたCINCA症候群における関節病態の解明

    • Author(s)
      横山宏司、西小森隆太、納富誠司郞、田中孝之、斎藤潤、梅田雄嗣、池谷真、中畑龍俊、戸口田淳也、平家俊男
    • Organizer
      第117回日本小児科学会
    • Place of Presentation
      名古屋
    • Year and Date
      2014-04-11 – 2014-04-13
    • Data Source
      KAKENHI-PROJECT-24390263
  • [Presentation] 次世代シーケンサーを用いた“変異陰性TRAPS”における体細胞モザイクの検索

    • Author(s)
      19.中川権史、西小森隆太、河合朋樹、八角高裕、平家俊男
    • Organizer
      第117回日本小児科学会学術集会
    • Place of Presentation
      名古屋
    • Year and Date
      2014-04-11 – 2014-04-13
    • Data Source
      KAKENHI-PROJECT-26253062
  • [Presentation] 次世代シークエンサーを用いた“変異陰性TRAPS”における体細胞モザイクの検索

    • Author(s)
      中川権史、西小森隆太、河合朋樹、八角高裕、平家俊男
    • Organizer
      第117回日本小児科学会
    • Place of Presentation
      名古屋
    • Year and Date
      2014-04-11 – 2014-04-13
    • Data Source
      KAKENHI-PROJECT-24390263
  • [Presentation] 羅患者由来iPS細胞を用いたCINCA症候群における関節病態の解明

    • Author(s)
      13.横山宏司、西小森隆太、納富誠司郎、田中孝之、斉藤 潤、梅田雄嗣、池谷 真、中畑龍俊、戸口田淳也、平家俊男
    • Organizer
      第117回日本小児科学会学術集会
    • Place of Presentation
      名古屋
    • Year and Date
      2014-04-11 – 2014-04-13
    • Data Source
      KAKENHI-PROJECT-26253062
  • [Presentation] エクソンスキッピングに伴い非典型的な表現型を呈したFilaminA異常症の兄弟例

    • Author(s)
      小田紘嗣、河合朋樹、中川権史、日衛嶋栄太郎、井澤和司、西小森隆太、小原收、沼部博直、平家俊男
    • Organizer
      第117回日本小児科学会
    • Place of Presentation
      名古屋
    • Year and Date
      2014-04-11 – 2014-04-13
    • Data Source
      KAKENHI-PROJECT-24390263
  • [Presentation] 当科におけるFHL(家族性血球貪食性リンパ組織球症)スクリーニングの現状

    • Author(s)
      堀雅之、八角高裕、西小森隆太、平家俊男
    • Organizer
      第117回日本小児科学会学術集会
    • Place of Presentation
      名古屋国際会議場
    • Year and Date
      2014-04-11 – 2014-04-13
    • Data Source
      KAKENHI-PROJECT-26461582
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