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Study on causes and pathophysiology of CINCA syndrome patients without CIAS1 gene mutations

Research Project

Project/Area Number 19591249
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Pediatrics
Research InstitutionKyoto University

Principal Investigator

NISHIKOMORI Ryuta  Kyoto University, 医学研究科, 助教 (70359800)

Co-Investigator(Kenkyū-buntansha) 神戸 直智  千葉大学, 大学院・医学研究院, 講師 (50335254)
Co-Investigator(Renkei-kenkyūsha) KAMBE Naotomo  千葉大学, 大学院・医学研究院, 講師 (50335254)
Project Period (FY) 2007 – 2008
Project Status Completed (Fiscal Year 2008)
Budget Amount *help
¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2008: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2007: ¥2,860,000 (Direct Cost: ¥2,200,000、Indirect Cost: ¥660,000)
Keywords小児免疫・アレルギー・膠原病学 / CINCA症候群 / CIAS1 / 体細胞モザイク / 自己炎症症候群 / 自己炎症性疾患 / NLRP3 / 体細胞モデイク
Research Abstract

蕁麻疹様の発疹、関節症状、無菌性髄膜炎を3主徴とするCINCA症候群の原因遺伝子としてCIAS1が報告されたが、約40%に同遺伝子異常を認めない。本研究でCIAS1遺伝子異常を認めない症例を集積し、4例中3例に潜在性CIAS1体細胞モザイクが存在することを示した。また同疾患患者単球はTLR4リガンドであるLPS刺激で細胞死が誘導されることを示し、同性状を用いた診断法を開発した。

Report

(3 results)
  • 2008 Annual Research Report   Final Research Report ( PDF )
  • 2007 Annual Research Report
  • Research Products

    (10 results)

All 2009 2008 2007

All Journal Article (9 results) (of which Peer Reviewed: 9 results) Presentation (1 results)

  • [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

    • Related Report
      2008 Final Research Report
    • Peer Reviewed
  • [Journal Article] Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis.2009

    • Author(s)
      Okafuji I, et al
    • Journal Title

      Arthritis Rheum 60

      Pages: 242-250

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [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

    • Related Report
      2008 Final Research Report
    • Peer Reviewed
  • [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

    • Related Report
      2008 Final Research Report
    • Peer Reviewed
  • [Journal Article] Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative2008

    • Author(s)
      Saito M, et al
    • Journal Title

      Blood 111

      Pages: 2132-2141

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-associated periodic syndrome patients.2008

    • Author(s)
      Saito M, et. al.
    • Journal Title

      Blood 111

      Pages: 2132-2141

    • Related Report
      2007 Annual Research Report
    • Peer Reviewed
  • [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

    • Related Report
      2008 Final Research Report
    • Peer Reviewed
  • [Journal Article] Disease-associated mutations in CIAS1 induce cathepsin B-dependent rapid cell death of human THP-1 monocytic cells.2007

    • Author(s)
      Fujisawa A, et. al.
    • Journal Title

      Blood 109

      Pages: 2903-2911

    • Related Report
      2007 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A CIAS1 mutation in a Japanese girl with familial cold autoinflammatory syndrome.2007

    • Author(s)
      Kanegane H, et. al.
    • Journal Title

      Eur J Pediatr 167

      Pages: 245-247

    • Related Report
      2007 Annual Research Report
    • Peer Reviewed
  • [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
    • Related Report
      2008 Final Research Report

URL: 

Published: 2007-04-01   Modified: 2016-04-21  

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