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Clarification of metabolic disorder and fever in hyper IgD syndrome

Research Project

Project/Area Number 19790735
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeSingle-year Grants
Research Field Pediatrics
Research InstitutionKumamoto University (2008)
Yokohama City University (2007)

Principal Investigator

NARUTO Takuya  Kumamoto University, エイズ学研究センター, 非常勤研究員 (60438124)

Project Period (FY) 2007 – 2008
Project Status Completed (Fiscal Year 2008)
Budget Amount *help
¥2,530,000 (Direct Cost: ¥2,200,000、Indirect Cost: ¥330,000)
Fiscal Year 2008: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2007: ¥1,100,000 (Direct Cost: ¥1,100,000)
Keywords自己炎症症候群 / 高IgD症候群 / メバロン酸 / MVK / 代謝性疾患
Research Abstract

自己炎症症候群を疑う患者の同意を得て末梢白血球からの核酸抽出、MVKシグナル塩基配列領域の増幅しシークエンス解析した。この自己炎症症候群を疑う患者のなかでメバロン酸の高値を伴う患者を見出し塩基配列解析の結果、新たに1例目と同じ変異を持つ新たな高IgD症候群の家系を見出した。このためG326R変異は日本で潜在していることが推察された。

Report

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

    (5 results)

All 2009 2008 2007

All Journal Article (4 results) (of which Peer Reviewed: 2 results) Presentation (1 results)

  • [Journal Article] Hyper-IgD syndrome with novel mutation in a Japanese girl2009

    • Author(s)
      Naruto T, Nakagishi Y, Mori M, Miyamae T, Imagawa T, Yokota S
    • Journal Title

      Mod Rheumatol 19(1)

      Pages: 96-9

    • NAID

      10025112230

    • Related Report
      2008 Final Research Report
    • Peer Reviewed
  • [Journal Article] Hyper-IgD syndrome with novel mutation in a Japanese girl2009

    • Author(s)
      Naruto T.
    • Journal Title

      Modern Rheumatology 1

      Pages: 96-99

    • NAID

      10025112230

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 高IgD症候群のMVK遺伝子異常と新しい治療法の導入2007

    • Author(s)
      成戸卓也
    • Journal Title

      日本臨床免疫学会会誌 30巻2号

      Pages: 86-89

    • NAID

      10019495258

    • Related Report
      2008 Final Research Report
  • [Journal Article] 高IgD症候群のMVK遺伝子異常と新しい治療法の導入2007

    • Author(s)
      成戸 卓也
    • Journal Title

      日本臨床免疫学会会誌 30

      Pages: 86-89

    • NAID

      10019495258

    • Related Report
      2007 Annual Research Report
  • [Presentation] 高IgD症候群2008

    • Author(s)
      成戸卓也
    • Organizer
      第29回日本炎症・再生医学会
    • Place of Presentation
      東京
    • Year and Date
      2008-07-10
    • Related Report
      2008 Final Research Report

URL: 

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

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