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Development of molecular biological methods for diagnosis and treatment of severe combined immunodeficiency

Research Project

Project/Area Number 06670783
Research Category

Grant-in-Aid for General Scientific Research (C)

Allocation TypeSingle-year Grants
Research Field Pediatrics
Research InstitutionNagoya University

Principal Investigator

TSUGE Ikuya  Nagoya University School of medicine Assistant Professor, 医学部, 助手 (00231431)

Project Period (FY) 1994 – 1995
Project Status Completed (Fiscal Year 1995)
Budget Amount *help
¥2,100,000 (Direct Cost: ¥2,100,000)
Fiscal Year 1995: ¥1,200,000 (Direct Cost: ¥1,200,000)
Fiscal Year 1994: ¥900,000 (Direct Cost: ¥900,000)
KeywordsSevere Combined Immunodeficiency / mutation analysis / 遺伝子診断法 / 遺伝子治療法
Research Abstract

Severe combined immunodeficiency (SCID) is an inherited immunodeficiency disease in man, characterized by profound abnormalities of both the cellular and humoral arms of the immune system. Among the classic types of SCID,SCID with a normal number of BETA lymphocytes usually demonstrates an CHI-linked inheritance and now is regarded as common gamma-chain gene defect. Here, we report the characterization of mutations in the common gamma-chain gene of eight unrelated SCID with BETA cells patients. One large deletion, one short deletion, one nonsense mutation and four single missense mutations were identified. Three missense mutations were located near the motifs common to members of the class IOTA cytokine receptor family and a methionine at the beginning of the translation was mutated in remaining one patient.
Of these eight patients, five received bone marrow transplantation (BMT). Although three patients developed full TAU-and BETA-cell response after HLA-genotypically identical BMT,antibody response remain absent in two patients who received HLA-partially phenotypically identical BMT.In both cases, patient derived BETA cells remain for a long period. As EB-virus transformed BETA cells from patients produce immunoglobulins in vitro, BETA cells in patients might be in an anagy-like state. The exact mechanism of antibody deficiency after BMT remained to be determined.

Report

(3 results)
  • 1995 Annual Research Report   Final Research Report Summary
  • 1994 Annual Research Report
  • Research Products

    (13 results)

All Other

All Publications (13 results)

  • [Publications] Kimura,H.et al: "Intacf antigen presentatition for Epstein-Bcvv virus (EBV)-specific CTL by a lymphobbastoid cell line established from a patient with seueve chvcn actuve EBV in fection" Medical Microbial Immunology. 184. 63-68 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Tsuge I et al: "Comparison of antibody specificities of four anti-thymocyte/anti-lymphocyte globulin products" Current Therapeutic Research. 56. 671-677 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Kuzushima K et al: "Establishuemt of arti-Epsten-Bauv Virus (EBV)cellular immunity by adoptive transfer of virus specificcytotoxic T lynphocytes from an HLN matcvod sirling te patient uits saueve clavnlc actoue EBV infection" Clinical Experimental Immunology. 103. 192-198 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] 柘植 郁哉 他: "伴性無γグロブリン血症とB+K遺伝子の発現異常" 炎症と免疫. 2. 494-495 (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Kimura H,Tsuge I,Imai S,Yamamoto M,Kuzushima K,Osato T,Morishima T: "Intact antigen presentation for Epstein-Barr virus (EBV)-specific CTL by a lymphoblastoid cell line established from a patient with severe chronic" Medical Microbial Immunology. 184. 63-68 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Tsuge I and Kojima S: "Comparison of antibody specificities of four anti-thymocyte/antilymphocyte globulin products." Current Therapeutic Research. 56. 671-677 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Kuzushima K,Yamamoto M,Kimura H,Ando Y,Kudo T,Tsuge I,Morishima T: "Establishment of anti-Epstein-Barr virus (EBV) cellular immunity by adoptive transfer of virus-specific cytotoxic TAU lymphocytes from an HLA-matched sibling to a patient with severe chronic avtive EBV infection." Clinical Experimental Immunology. 103. 192-198 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Kimura H.et al: "Intact antigen presentatition for Epstein-Barr virus(EBV)-specificCTL by a lymphobllastoid cell line established from a patient with seveve chronic active EBV intection" Meclical Micvobial Immuuology. 184. 63-68 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] Tsuge I et al: "Comparison of antibody specificities of fow anti-thymocyte/anti-lymphocyte globulin products." Current Therapeutic Pesearvh. 56. 671-677 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] Kuzushima K et al: "Establishneut of arti-Epstein-Barr virua(EBV)cellulav immunity by adoptive tvensfer of vinus specific cytotoxic Tlyinphocytes fvom an HLA matcled sibling to a patient with seveve chronlcacfive EBV infection" Chnical Experimental Immunology. 103. 192-198 (1996)

    • Related Report
      1995 Annual Research Report
  • [Publications] 柘植郁哉 他: "伴性無γグロブリン血症とBtk遺伝子の発現異常" 炎症と免疫. 2. 492-495 (1994)

    • Related Report
      1995 Annual Research Report
  • [Publications] T.Abe: "Evidence for defects in V(D)J rearrangements in patients with severe combined immunodeficiency" Journal of Immundogy. 152. 5504-5513 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] 柘植郁哉: "免疫不全症候群に対するHLA適合者からの骨髄移植" 小児科診療. 57. 1078-1082 (1994)

    • Related Report
      1994 Annual Research Report

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Published: 1994-04-01   Modified: 2016-04-21  

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