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Establishment of diagnosis and stem cell transplantation therapy regarding severe combined immunodeficiency

Research Project

Project/Area Number 17591078
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Pediatrics
Research InstitutionSHINSHU UNIVERSITY

Principal Investigator

AGEMATSU Kazunaga  Shinshu Univ., Graduate School of Med., Associate prof., 医学研究科, 助教授 (60262721)

Co-Investigator(Kenkyū-buntansha) 小林 法元  信州大学, 医学部附属病院, 助手 (00362129)
Project Period (FY) 2005 – 2006
Project Status Completed (Fiscal Year 2006)
Budget Amount *help
¥3,400,000 (Direct Cost: ¥3,400,000)
Fiscal Year 2006: ¥1,200,000 (Direct Cost: ¥1,200,000)
Fiscal Year 2005: ¥2,200,000 (Direct Cost: ¥2,200,000)
Keywordsimmunodeficiency / transplantation / T cell / 重症複合免疫不全症 / 造血幹細胞移植 / 放射性感受性 / 易感染性
Research Abstract

Patients with severe combined immunodeficiency (SCID) is a disorder of poor prognosis. A subgroup of SCID increased cellular radiation sensitivity (RS-SCID) have mutations of Artemis, a gene that encodes a protein essential for V(D)J recombination and DNA double-strand break repair. We have identified three Japanese boys and one girl from four unrelated families with RS-SCID caused by a genomic exon 3 deletion of the Artemis gene, resulting in loss of exon 3 and skipping of exon 4. Two patients were homozygous and two patients were heterozygous for this novel mutation. Those parents studied were heterozygous for this mutation. Although two infants underwent successful bone marrow transplantation and immune reconstitution, the long-term outcome of this procedure is uncertain, because Artemis is expressed in most tissues and lack of its function in cells other than those derived from hematopoietic stem cells may increase the risk of malignancies.
A diagnosis tends to be late, and because transplantation methods are not unified, the treatment of SCID is different the hospital. We are able to establish a genetic analysis in Japan, and develop early diagnosis and hematopoietic stem cell transplantation methods of severe combined immunodeficiency by this study. In these two years, we were able to make transplantation protocol of severe combined immunodeficiency jointly. In addition, we] could do presentation of severe combined immunodeficiency and other immunodeficiency.

Report

(3 results)
  • 2006 Annual Research Report   Final Research Report Summary
  • 2005 Annual Research Report
  • Research Products

    (38 results)

All 2006 2005 Other

All Journal Article (37 results) Book (1 results)

  • [Journal Article] Role of tonsillar IgD^+CD27^+ memory B cells in humoral immunity against pneumococcal infection.2006

    • Author(s)
      Takizawa M, Sugane K, Agematsu K
    • Journal Title

      Human Immunoloey 67

      Pages: 966-975

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2006 Final Research Report Summary
  • [Journal Article] Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity.2006

    • Author(s)
      Minegishi Y, Saito M, Morio T, Watanabe K, Agematsu K, Tsuchiya S, Takada H, Hara T, Kawamura N, Karasuyama H
    • Journal Title

      Immunity 25

      Pages: 745-755

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2006 Final Research Report Summary
  • [Journal Article] X-linked agammaglobulinemia diagnosed in adulthood : a case report.2006

    • Author(s)
      Mitsui T, Tsukamoto N, Kanegane H, Agematsu K, Sekigami T, Irisawa H, Saitoh T, Uchiumi H, Handa H, Matsushima T, Karasawa M, Murakami H, Miyawaki T, Nojima Y
    • Journal Title

      Int J Hematol. 84

      Pages: 154-157

    • NAID

      10019284876

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2006 Final Research Report Summary
  • [Journal Article] Secretory IgA, salivary peroxidase, and catalase-mediated microbicidal activity during hydrogen peroxide catabolism in viridans streptococci : pathogen coaggregation.2006

    • Author(s)
      Uehara Y, Agematsu K, Sugai M
    • Journal Title

      J Infect Dis. 194

      Pages: 98-107

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2006 Final Research Report Summary
  • [Journal Article] Differential effects of short-acting beta2-agonists on human granulocyte functions.2006

    • Author(s)
      Yasui K, Kobayashi N, Yamazaki T, Agematsu K, Matsuzaki S, Nakata S, Baba A
    • Journal Title

      Int Arch Allergy Immunol. 139

      Pages: 1-8

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2006 Final Research Report Summary
  • [Journal Article] ICOS-ligand B7H2, expressed on human type II alveolar epithelial cells, plays a role in pulmonary host defense system.2006

    • Author(s)
      Qian X, Agematsu K, Freeman GJ, Tagawa Y, Sugane K, Hayashi T.
    • Journal Title

      Eur J Immunol 36

      Pages: 906-918

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2006 Final Research Report Summary
  • [Journal Article] Regulation of Aged Humoral Immune Defense against Pneumococcal Bacteria by IgM Memory B Cell.2006

    • Author(s)
      Shi Y, Okubo, Yoshio Y, Uehara Y, Sugane K, Agematsu K
    • Journal Title

      J Immunol. 175

      Pages: 3267-3267

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2006 Final Research Report Summary
  • [Journal Article] Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity.2006

    • Author(s)
      Minegishi Y, Saito M, Morio T, Watanabe K, Agematsu K, Tsuchiya S, Takada H, Hara T, Kawamura N, Ariga T, Kaneko H, Kondo N, Tsuge I, Yachie A, Sakiyama Y, Iwata T, Bessho F, Ohishi T, Joh K, Imai K, Kogawa K, Shinohara M, Fujieda M, Wakiguchi H, Pasic S, Abinun M, Ochs HD, Renner ED, Jansson A, Belohradsky BH, Metin A, Shimizu N, Mizutani S, Miyawaki T, Nonoyama S, Karasuyama H.
    • Journal Title

      Immunity 25

      Pages: 745-755

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2006 Final Research Report Summary
  • [Journal Article] X-linked agammaglobulinemia diagnosed in adulthood : a case report.2006

    • Author(s)
      Mitsui T, Tsukamoto N, Kanegane H, Agematsu K, Sekigami T, Irisawa H, Saitoh T, Uchiumi H, Handa H, Matsushima T, Karasawa M, Murakami H, Miyawaki T, Nojima Y.
    • Journal Title

      Int J Hematol. 84

      Pages: 154-7

    • NAID

      10019284876

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2006 Final Research Report Summary
  • [Journal Article] Secretory IgA, salivary peroxidase, and catalase-mediated microbicidal activity during hydrogen peroxide catabolism in viridans streptococci : pathogen coaggregation.2006

    • Author(s)
      Uehara Y, Agematsu K, Kikuchi K, Matsuzaki S, Imai S, Takamoto M, Sugane K, Sugiura T, Konishi Y, YoshinoN, Takeuchi S, Seo H, Kuramoto S, Sugai M.
    • Journal Title

      J Infect Dis. 194

      Pages: 98-107

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2006 Final Research Report Summary
  • [Journal Article] ICOS-ligand B7H2, expressed on human type II alveolar epithelial cells, plays a role in pulmonary host defense system.2006

    • Author(s)
      Qian X, Agematsu K, Freeman GJ, Tagawa Y, Sugane K, Hayashi T.
    • Journal Title

      Eur J Immunol. 36

      Pages: 906-18

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2006 Final Research Report Summary
  • [Journal Article] Role of tonsillar IgD^+CD27^+ memory B cells in humoral immunity against pneumococcal infection.2006

    • Author(s)
      Takizawa M, Sugane K, Agematsu K
    • Journal Title

      Humman Immunology 67

      Pages: 966-975

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

    • Author(s)
      Mitsui T, Tsukamoto N, Kanegane H, Agematsu K, Sekigami T, Irisawa H, Saitoh T, Uchiumi H, Handa H, Matsushita T, Karasawa M, Murakami H, Miyawaki T, Nojima Y
    • Journal Title

      Int H Hematol. 84

      Pages: 154-157

    • NAID

      10019284876

    • Related Report
      2006 Annual Research Report
  • [Journal Article] ICOS-ligand B7H2, expressed on human type II alveolar epithelial cells, plays a role in pulmonary host defense system.2006

    • Author(s)
      Qian X, Agematsu K, Freeman GJ, Tagawa Y, Sugane K, Hayashi T
    • Journal Title

      Eur J Immunol. 36

      Pages: 906-918

    • Related Report
      2006 Annual Research Report
  • [Journal Article] 小児期より感染を繰り返し28歳で初めて診断された1型高IgM症候群2006

    • Author(s)
      小池道明, 押味和夫, 植松一永, 二谷 武
    • Journal Title

      臨床血液 47

      Pages: 1377-1380

    • Related Report
      2006 Annual Research Report
  • [Journal Article] CD72-mediated suppression of human naive B cell differentiation by down-regulating X-box bindingprotein 1.2005

    • Author(s)
      Yamazaki T, Nagumo H, Hayashi T, Sugane K, Agematsu K
    • Journal Title

      Eur J Immunol. 35

      Pages: 2325-2334

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2006 Final Research Report Summary
  • [Journal Article] Oligoclonal expansion of T lymphocytes with multiple second-site mutations leads to Omenn syndrome in a patient with RAG1-deficient severe combined immunodeficiency.2005

    • Author(s)
      Wada T, Toma T, Agematsu K, Kimura H, Kato M, Yachie A
    • Journal Title

      Blood 106

      Pages: 2099-2101

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2006 Final Research Report Summary
  • [Journal Article] Effective combination therapy using interferon-gamma and interleukin-2 for disseminated Mycobacterium avium complex infection in a pediatric patient with AIDS.2005

    • Author(s)
      Sekiguchi Y, Yasui K, Yamazaki T, Agematsu K, Kobayashi N, Koike K
    • Journal Title

      Clin Infect Dis. 41

      Pages: 104-106

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2006 Final Research Report Summary 2005 Annual Research Report
  • [Journal Article] Polarization of Th1/Th2 gene expression in subpopulations of human CD45RO^+CD4^+ T lymphocytes distinguished by CD62L.2005

    • Author(s)
      Matsuzaki S, Shinozaki K, Kobayashi N, Agematsu K
    • Journal Title

      Allergy 60

      Pages: 780-787

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2006 Final Research Report Summary
  • [Journal Article] Thalidomide as an immunotherapeutic agent : the effects on neutrophil-mediated inflammation.2005

    • Author(s)
      Yasui k, Kobayasi N, Yamazaki T, AgematsuK
    • Journal Title

      Curr Pharm Design 1

      Pages: 395-4012

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2006 Final Research Report Summary
  • [Journal Article] Superoxide dismutase (SOD) as a potential inhibitory mediator of inflammation via neutrophil apoptosis.2005

    • Author(s)
      Yasui K, Kobayashi N, Yamazaki T, Agematsu K, Matsuzaki S, Ito S, Nakata S, Baba A, Koike K
    • Journal Title

      Free Radic Res. 39

      Pages: 755-762

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2006 Final Research Report Summary
  • [Journal Article] CD72-mediated suppression of human naive B cell differentiation by down-regulating X-box bindingprotein 1.2005

    • Author(s)
      Yamazaki T, Nagumo H, Hayashi T, Sugane K, Agematsu K.
    • Journal Title

      Eur J Immunol. 35

      Pages: 2325-34

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2006 Final Research Report Summary
  • [Journal Article] Oligoclonal expansion of T lymphocytes with multiple second-site mutations leads to Omenn syndrome in a patient with RAG1-deficient severe combined immunodeficiency.2005

    • Author(s)
      Wada T, Toma T, Okamoto H, Kasahara Y, Koizumi S, Agematsu K, Kimura H, Shimada A, Hayashi Y, Kato M, Yachie A.
    • Journal Title

      Blood 106

      Pages: 2099-101

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2006 Final Research Report Summary 2005 Annual Research Report
  • [Journal Article] Regulation of Aged Humoral Immune Defense against Pneumococcal Bacteria by IgM Memory B Cell.2005

    • Author(s)
      Shi Y, Okubo, Yoshio Y, Uehara Y, Sugane K, Agematsu K
    • Journal Title

      J Immunol. 175

      Pages: 3267-7

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2006 Final Research Report Summary 2005 Annual Research Report
  • [Journal Article] Effective combination therapy using interferon-gamma and interleukin-2 for disseminated Mycobacterium avium complex infection in a pediatric patient with AIDS.2005

    • Author(s)
      Sekiguchi Y, Yasui K, Yamazaki T, Agematsu K, Kobayashi N, Koike K.
    • Journal Title

      Clin Infect Dis. 41

      Pages: 104-6

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2006 Final Research Report Summary
  • [Journal Article] Polarization of Thl/Th2 gene expression in subpopulations of human CD45RO^+CD4^+ T lymphocytes distinguished by CD62L.2005

    • Author(s)
      Matsuzaki S, Shinozaki K, Kobayashi N, Agematsu K.
    • Journal Title

      Allergy 60

      Pages: 780-7

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2006 Final Research Report Summary
  • [Journal Article] Differential effects of short-acting beta2-agonists on human granulocyte functions.2005

    • Author(s)
      Yasui K, Kobayashi N, Yamazaki T, Agematsu K, Matsuzaki S, Nakata S, Baba A.
    • Journal Title

      Int Arch Allergy Immunol. 139

      Pages: 1-8

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2006 Final Research Report Summary 2005 Annual Research Report
  • [Journal Article] Thalidomide as an immunotherapeutic agent : the effects on neutrophil-mediated inflammation.2005

    • Author(s)
      Yasui k, Kobayasi N, Yamazaki T, AgematsuK.
    • Journal Title

      Curr Pharm Design (Review) 1

      Pages: 395-401

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2006 Final Research Report Summary
  • [Journal Article] Superoxide dismutase (SOD) as a potential inhibitory mediator of inflammation via neutrophil apoptosis.2005

    • Author(s)
      Yasui K, Kobayashi N, Yamazaki T, Agematsu K, Matsuzaki S, Ito S, Nakata S, Baba A, Koike K.
    • Journal Title

      Free Radic Res. 39

      Pages: 755-62

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2006 Final Research Report Summary 2005 Annual Research Report
  • [Journal Article] CD72-mediated suppression of human naive B cell differentiation by down-regulating X-box bindingprotein 1.2005

    • Author(s)
      Yamazaki T, Nagumo H, Hayashi T, Sugane K, Agematsu K.
    • Journal Title

      European Journal of Immunology 35

      Pages: 2325-2334

    • Related Report
      2005 Annual Research Report
  • [Journal Article] Polarization of Th1/Th2 gene expression in subpopulations of human CD45RO^+CD4^+ T lymphocytes distinguished by CD62L.2005

    • Author(s)
      Matsuzaki S, Shinozaki Kobayashi N, Agematsu K.
    • Journal Title

      Allergy 60

      Pages: 780-787

    • Related Report
      2005 Annual Research Report
  • [Journal Article] Thalidomide as an immunotherapeutic agent : the effects on neutrophil-mediated inflammation.2005

    • Author(s)
      Yasui K, Kobayasi N, Yamazaki T, Agematsu K.
    • Journal Title

      Curr Pharm Design 1

      Pages: 395-401

    • Related Report
      2005 Annual Research Report
  • [Journal Article] 【原発性免疫不全症候群における最近の知見】原発性免疫不全症候群診断のアプローチ2005

    • Author(s)
      小林真二, 上松一永
    • Journal Title

      小児科 47

      Pages: 17-23

    • Related Report
      2005 Annual Research Report
  • [Journal Article] 【発熱を伴う皮膚病】臨床例小児MCTD2005

    • Author(s)
      徳田安孝, 野呂瀬昇, 飯島みわ子, 畑由紀子, 平林佳奈枝, 上松一永
    • Journal Title

      皮膚病診療 27

      Pages: 1415-1418

    • Related Report
      2005 Annual Research Report
  • [Journal Article] 小児医学最近の進歩 自己炎症疾患の病態2005

    • Author(s)
      上松一永
    • Journal Title

      小児科 46

      Pages: 1599-1604

    • NAID

      40006903349

    • Related Report
      2005 Annual Research Report
  • [Journal Article] 【小児科医に必要な遺伝カウンセリングの知識と実際】原発性免疫不全症候群と遺伝カウンセリング2005

    • Author(s)
      松崎聡, 上松一永, 小池健一
    • Journal Title

      小児科 46

      Pages: 973-985

    • Related Report
      2005 Annual Research Report
  • [Journal Article] Role of tonsillar IgD^+ CD27^+ memory B cells in humoral immunity against pneumococcal infection.

    • Author(s)
      Takizawa M, Sugane K, Agematsu K.
    • Journal Title

      Human Immunology 67

      Pages: 966-975

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2006 Final Research Report Summary
  • [Book] Eur J Immunol. 362006

    • Author(s)
      Qian X, Agematsu K, Freeman GJ, Tagawa Y, Sugane K, Hayashi T
    • Publisher
      ICOS-ligand B7H2, expressed on human type II alveolar epithelial cells, plays a role in pulmonary host defense system.
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2006 Final Research Report Summary

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Published: 2005-04-01   Modified: 2016-04-21  

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