Common variable immunodeficiency

• TAKAHASHI Naomi

  Department of Pediatrics and Developmental Biology Tokyo Medical and Dental University, Graduate School

• MORIO Tomohiro

  Department of Pediatrics and Developmental Biology Tokyo Medical and Dental University, Graduate School

Bibliographic Information

Other Title

• 分類不能型免疫不全症

Abstract

  Common variable immunodeficiency (CVID) is a primary immunodeficiency that is characterized by low level of serum immunoglobulins and an increased susceptibility to infections. The patients show a variety of clinical, cellular, and immunological defects, may develop autoimmune disease, and are susceptible to malignancy. The recent identification of four genetic defects that result in the CVID phenotype demonstrates that the genetic basis of CVID is highly variable. The responsible gene products include, ICOS, TACI, BAFF-R, CD19. Insufficiency of each molecule disrupts B cell maturation, function and differentiation at a different stage. Despite the elucidation of responsible genes, the molecular mechanisms leading to the immune defects are still yet to be understood. In this paper, we overview the molecular basis of CVID, and will provide some data on how the defect leads to autoimmunity.<br>

Journal

• Japanese Journal of Clinical Immunology

  Japanese Journal of Clinical Immunology 31 (1), 9-16, 2008

  The Japan Society for Clinical Immunology

Keywords

• CVID
• ICOS
• TACI
• BAFF-R
• CD19

Details

• CRID: 1390001204648292992
• NII Article ID: 10021242183
• NII Book ID: AN00357971
• DOI: 10.2177/jsci.31.9
• ISSN: 13497413
• ISSN: 09114300
• ISSN: http://id.crossref.org/issn/09114300
• Web Site: http://www.jstage.jst.go.jp/article/jsci/31/1/31_1_9/_pdf
• Web Site: https://search.jamas.or.jp/link/ui/2008175457
• Text Lang: ja
• Data Source:
  • JaLC
  • Crossref
  • CiNii Articles
  • KAKEN
• Abstract License Flag: Disallowed