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Establishment of diagnostic system and study of epidemiology of primary immunodeficiency diseases in East Asia

Research Project

Project/Area Number 18591185
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Pediatrics
Research InstitutionUniversity of Toyama

Principal Investigator

KANEGANE Hirokazu  University of Toyama, Department of Pediatrics, Assistant Professor (00293324)

Project Period (FY) 2006 – 2007
Project Status Completed (Fiscal Year 2007)
Budget Amount *help
¥3,830,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥330,000)
Fiscal Year 2007: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2006: ¥2,400,000 (Direct Cost: ¥2,400,000)
KeywordsEast Asia / Primary immunodeficiency / X-linked agammaglobulinemia / Flow cytometry / Genetic analysis / X連鎖無ガンマグロブリン血症
Research Abstract

We collaborated with Dr. Xiaochuan Wang in Fudan University, Shanghai, China, and Dr. Eun-Kyeong Jo in Chungnam National University, Daejon, Korea for this study. We previously identified a novel mutation in intron 1 position +5 (G→T) of BTK gene in a Japanese patient with X-linked agammaglobulinemia (XLA). The reporter constructs containing mutations were made, and the reporter activities ware measured by a luciferase assay. The mutant constructs were demonstrated to have reduced transcriptional activity. Positions +5 and +6 in intron 1 of the BTK gene are critical for transcriptional activity, and defects in these regions cause XLA (Shin D-M, et. Al.. Pediatr Int, in press).
Some of primary immunodeficiency diseases (PID) show various and atypical phenotypes, whereas similar phenotypes are caused by various kinds of genes. Thus genetic analysis has become important for a definite diagnosis of PID. There have more than 120 causative genes for PID, and it is time-consuming and labor-intensive to perform genetic analysis of PID. In collaboration with Riken Center for Allergy and Immunology and Kazusa DNA Research Institute, we have established a diagnostic system to analyze previous known genes for PID intensively. A database for registration of PID patients (PIDJ= http://pidj.rcai.riken.jp/medical.html) has also be established. In the future, the PIDJ would be handled all over the Asia, and would be linked with other databases in the Western countries.

Report

(3 results)
  • 2007 Annual Research Report   Final Research Report Summary
  • 2006 Annual Research Report
  • Research Products

    (20 results)

All 2008 2007 2006

All Journal Article (18 results) (of which Peer Reviewed: 5 results) Presentation (2 results)

  • [Journal Article] A CIAS1 mutation in a Japanese girl with familial cold autoinflammatory syndrome2008

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

      Eur J Pediatr 167

      Pages: 245-247

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] A case of severe recurrent hepatitis with common variable immunodeficiency2008

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

      Heatol Res 38

      Pages: 415-420

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] Novel mutations in a Japanese patient with CD19 deficiency2007

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

      Genes and Immunity 8

      Pages: 663-670

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Annual Research Report 2007 Final Research Report Summary
    • Peer Reviewed
  • [Journal Article] Expression of Fcγ and complement receptors in monocytes of X-linked a gammaglobulinemia and common variable immunodeficiency patients2007

    • Author(s)
      Amoraz AL, et. al.
    • Journal Title

      Clinical and Experimental Immunology 150

      Pages: 422-428

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
    • Peer Reviewed
  • [Journal Article] Developmental changes of FOXP3-expressing CD4^+CD25^+ regulatory T cells and their impairment in patients with FOXP3 mutations2007

    • Author(s)
      Fuchizawa T, et. al.
    • Journal Title

      Clinical Immunology 125

      Pages: 237-246

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
    • Peer Reviewed
  • [Journal Article] Successful management of neutropenia in a patient with CD40 ligand deficiency by immunoglobulin replacement therapy2007

    • Author(s)
      Atarod, L., et. al.
    • Journal Title

      Iran, J Allergy Asthma Immunol 6

      Pages: 37-40

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] Campylobacter coli bacteremia with reactive arthritis in a patient with X-linked agammaglobulinemia2007

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

      Intern Med 46

      Pages: 605-609

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] Novel mutations in a Japanese patient with CD 19 deficiency2007

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

      Genes Immun 8

      Pages: 663-670

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] Expression of Fey and comelement receptors in monocytes of X-linked agammaglobulinemia and common variable immunodeficiency patients2007

    • Author(s)
      Amoras, AL., et. al.
    • Journal Title

      Clin Exp Immunol 150

      Pages: 422-428

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] Developmental changes of FOXP3-expression CD4^+CD25^+ regulatory T cells and their impairment in patients with FOXP3 gene mutations2007

    • Author(s)
      Fuchizawa, T., et. al.
    • Journal Title

      Clin Immunol 125

      Pages: 237-246

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] Expression of Fcγ and complement receptors in monocytes of X-linked agammasrlobulinemia and common variable immunodeficiency patients2007

    • Author(s)
      Amoras AL, et. al.
    • Journal Title

      Clinical & Experimental Immunology 150

      Pages: 422-428

    • Related Report
      2007 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Developmental changes of FOXP3-expressing CD4^+CD25^+ regulatory T cells and their impairment in patients with FOXP3 gene mutations2007

    • Author(s)
      Fuchizawa T, et. al.
    • Journal Title

      Clinical Immunology 125

      Pages: 237-246

    • Related Report
      2007 Annual Research Report
    • Peer Reviewed
  • [Journal Article] X-linked lymphoproliferative disease associated with hypogammaglobulinemia and growth-hormone deficiency2006

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

      European Journal of Pediatrics 165

      Pages: 165-167

    • Related Report
      2006 Annual Research Report
  • [Journal Article] Membranoproliferative glomerulonephritis in a patient with X-linked agammaglobulinemia2006

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

      Pediatric Nephrology 21

      Pages: 36-38

    • Related Report
      2006 Annual Research Report
  • [Journal Article] Clinical and genetic analyses of presumed Shwachman-Diamond syndrome in Japan2006

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

      International Journal of Hematology 84

      Pages: 60-62

    • Related Report
      2006 Annual Research Report
  • [Journal Article] X-linked agammaglobulinemia diagnosed in adulthood : a case report2006

    • Author(s)
      Mitsui T, et al.
    • Journal Title

      International Journal of Hematology 84

      Pages: 154-157

    • Related Report
      2006 Annual Research Report
  • [Journal Article] Clinical and immunological and molecular characteristics of 37 Iranian patients with X-linked agammaglobulinemia2006

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

      Iranian Archives of Allergy and Immunology 141

      Pages: 408-414

    • Related Report
      2006 Annual Research Report
  • [Journal Article] Outcome in patients with Wiskott-Aldrich syndrome following stem cell transplantation : an analysis of 57 patients in Japan2006

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

      British Journal of Haematology 135

      Pages: 362-366

    • Related Report
      2006 Annual Research Report
  • [Presentation] Infection and primary antibody deficiency2008

    • Author(s)
      Kanegane, H
    • Organizer
      The 110th annual meeting of Japan Pediatric Society
    • Place of Presentation
      Kyoto
    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] ワークショップ「感染と抗体産生不全」2007

    • Author(s)
      金兼 弘和
    • Organizer
      第110回日本小児科学会
    • Place of Presentation
      京都市
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Annual Research Report 2007 Final Research Report Summary

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Published: 2006-04-01   Modified: 2016-04-21  

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