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SAP gene mutations in Epstein-Barr virus-associated illnesses and study for its pathogenesis

Research Project

Project/Area Number 13670787
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Pediatrics
Research InstitutionTOYAMA MEDICAL AND PHARMACEUTICAL UNIVERSITY

Principal Investigator

KANEGANE Hirokazu  Toyama Medical and Pharmaceutical University Faculty of Medicine Department of Pediatrics Assistant Professor, 附属病院, 講師 (00293324)

Project Period (FY) 2001 – 2002
Project Status Completed (Fiscal Year 2002)
Budget Amount *help
¥3,400,000 (Direct Cost: ¥3,400,000)
Fiscal Year 2002: ¥1,400,000 (Direct Cost: ¥1,400,000)
Fiscal Year 2001: ¥2,000,000 (Direct Cost: ¥2,000,000)
KeywordsX-linked lymphoproliferative syndrome / Epstein-Barr virus / SAP gene / Fatal infectious mononucleosis / Malignant fymphoma / Dysgammaglobulinemia / Chronic active EBV infection / Flow cytometry / 低γ-グロブリン血症 / 慢性活動性EBウイルス感染症
Research Abstract

There are various types of Epstein-Barr virus (EBV)-associated illnesses, which may be caused by abnormality of virus strain or host immunosurveillance. X-linked lymphoprbliferative syndrome (XLP) is a primary immunodeficiency characterized by a vulnerability to EBV infection. The XLP patient presents with various symptoms such as fatal infectious mononucleosis, malignant lymphoma and dysgammaglobulinemia, and the clinical diagnosis may be difficult if he has no family history. Based on the discovery of its causative gene SAP in 1998, we searched for SAP mutations in 40 males with severe EBV-associated illnesses. Although it had been believed that we had no XLP patients in Japan, we identified 10 patients from 9 XLP families (Blood 98 : 1268, 2001). SAP mutations were not related to chronic active EBV infections. Approximately half of XLP patients present with fatal infectious mononucleosis, by which more than 90% patients are dead. These patients can be cured only by stem cell transplantation, and early diagnosis and immediate treatment is required. We have established a flow cytmetoric assay for X-linked agammaglobulinemia, and a similar method for XLP was required. Wfe established anti-SAP monoclonal antibody by rat immunization, and identified new 3 XLP families by flow cytormetric assay using this antibody (Int Immunol 14 : 1215, 2002). Recently, we diagnosed a 17-year-old boy who had IgG2 subclass deficiency and EBV-positive lymphoma as having XLP. The monoclonal antibody established by us can be uniquely applicable to flow cytometric assay, and we provided them to other laboratories all over the world. We hope that it is useful for not only the detection of XLP patient but also the analysis of SAP function.

Report

(3 results)
  • 2002 Annual Research Report   Final Research Report Summary
  • 2001 Annual Research Report
  • Research Products

    (24 results)

All Other

All Publications (24 results)

  • [Publications] Katamura K, et al.: "Non-progressive viral myelitis in X-linked agammaglobulinemia"Brain and Development. 24・2. 109-111 (2002)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Wang Y, et al.: "Novel Igα(CD79a) gene mutation in a Turkish patient with B cell-deficient agammaglobulinemia"American Journal of Medical Genetics. 108・4. 333-336 (2002)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Tani SM, et al.: "Identification of mutations of Bruton's tyrosine kinase gene (BTK) in Brazilian patients with X-linked agammaglobulinemia"Human Mutation. 20・3. 235-236 (2002)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Shinozaki K, et al.: "Activation-dependent T cell expression of the X-linked lymphoproliferative disease gene product SLAM-associated protein and its assessment for patient detection"International Immunology. 14・10. 1215-1223 (2002)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Hirata D, et al.: "von-Recklinghausen disease in a patient with X-linked agammaglobulinemia"Internal Medicine. 41・11. 1039-1043 (2002)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Kanegane H, et al.: "Biological aspects of Epstein-Barr virus (EBV)-infected lymphocytes in chronic active EBV infection and associated malignancies"Critical Reviews in Oncology/Hematology. 44・3. 239-249 (2002)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Katamura K, et al.: "Non-progressive viral myelitis in X-linked agammaglobulinemia"Brain and Development. 24(2). 109-111 (2002)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Wang Y, et al.: "Novel Iga (CD79a) gene mutation in a Turkish patient with B cell-deficient agammglobulinemia"American Journal of Medical Genetics. 108(4). 333-336 (2002)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Tani SM, et al.: "Identification of mutations of Bruton's tyrosine kinase gene (BTK) in Brazilian patients with X-linked agammaglobulinemia"Human Mutation. 20(3). 235-236 (2002)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Shinozaki K, et al.: "Activation-dependent T cell expression of the X-linked lymphoproliferative disease gene product SLAM-associated protein and its assessment for patient detection"International Immunology. 14(19). 1215-1223 (2002)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Hirata D, et al.: "von-Recklinghausen disease in a patient with X-linked agammaglobulinemia"Internal Medeicine. 41(11). 1039-1043 (2002)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Kanegane H, et al.: "Biological aspects of Epstein-Barr virus (EBV)-infected lymphocytes in chronic active EBV infection and associated malignancies"Critical Reviews in Oncology/Hematology. 44(3). 239-249 (2002)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Katamura K, et al.: "Non-progressive viral myelitis in X-linked agammaglobulinemia"Brain and Development. 24・2. 109-111 (2002)

    • Related Report
      2002 Annual Research Report
  • [Publications] Wang Y, et al.: "Novel Igα (CD79a) gene mutation in a Turkish patient with B cell-deficient agammaglobulinemia"American Journal of Medical Genetics. 108・4. 333-336 (2002)

    • Related Report
      2002 Annual Research Report
  • [Publications] Tani SM, et al.: "Identification of mutations of Bruton's tyrosine kinase gene (BTK) in Brazilian patients with X-linked agammaglobulinemia"Human Mutation. 20・3. 235-236 (2002)

    • Related Report
      2002 Annual Research Report
  • [Publications] Shinozaki K, et al.: "Activation-dependent T cell expression of the X-linked lymphoproliferative disease gene product SLAM-associated protein and its assessment for patient detection"International Immunology. 14・10. 1215-1223 (2002)

    • Related Report
      2002 Annual Research Report
  • [Publications] Hirata D, et al.: "von-Recklinghausen disease in a patient with X-linked agammaglobulinemia"Internal Medicine. 41・11. 1039-1043 (2002)

    • Related Report
      2002 Annual Research Report
  • [Publications] Kanegane H, et al.: "Biological aspects of Epstein-Barr virus (EBV)-infected lymphocytes in chronic active EBV infection and associated malignancies"Critical Reviews in Oncology/Hematology. 44・3. 239-249 (2002)

    • Related Report
      2002 Annual Research Report
  • [Publications] Kimura H, Hoshino Y, Kanegane H, et al.: "Clinical and virologic characteristics of chronic active Epstein-Barrvirus infection"Blood. Vol.98, No.2. 280-286 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] Sumazaki R, Kanegane H, et al.: "SH2D1A mutations in Japanese males with severe Epstein-Barrvirus-associated illnesses"Blood. Vol.98, No.4. 1268-1270 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] 金兼弘和, 他: "慢性活動性EBウイルス感染症におけるSAP/SH2D1A 遺伝子解析"小児感染免疫. 第13巻・第2号. 159-162 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] 金兼弘和: "先天性血液免疫異常症の診断の進歩"日本小児血液学会雑誌. 第15巻・第2号. 89-94 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] 篠崎健太郎, 金兼弘和, 他: "SAP(SLAM-associated protein)の異常とEBウイルス感染"免疫Immunology Frontier. Vol.11 No.2. 109-113 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] 金兼弘和: "X-linked lymphoproliferative syndrome"日本臨床免疫学会雑誌. 第25巻・第1号(印刷中). (2002)

    • Related Report
      2001 Annual Research Report

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Published: 2001-04-01   Modified: 2016-04-21  

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