分類不能型免疫不全症 Update  [in Japanese] Common variable immunodeficiency : an update on etiology, pathophysiology, and classification  [in Japanese]

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Author(s)

    • 森尾 友宏 MORIO Tomohiro
    • 東京医科歯科大学大学院発生発達病態学分野 Department of Developmental Biology and Pediatrics, Tokyo Medical and Dental University Graduate School of Medical and Dental Sciences

Abstract

  分類不能型免疫不全症はCommon variable immunodeficiency (CVID)と呼ばれ,最も頻度の高い先天性免疫不全症,かつ最も頻度の高い抗体産生不全型免疫不全症である.今までに判明した責任遺伝子には<i>ICOS</i>, <i>TACI</i>, <i>CD19</i>, <i>CD20</i>, <i>CD21</i>, <i>CD81</i>, <i>BAFF</i>-Rなどがあるが,いずれもその頻度は低く,<i>TACI</i>ではその変異が直接的にかつ単一で病態に関わっているかどうか不明である.臨床症状としては感染症,自己免疫疾患や悪性腫瘍の合併などがあり,成人型の免疫不全症としてきわめて重要な位置を占める.特に単一遺伝子異常に基づく,易感染性,自己免疫疾患・悪性腫瘍の発症という点で,様々な疾患の免疫異常基盤探索においても重要な疾患である.鑑別診断に加え,病態に応じた分類,責任遺伝子の究明,至適治療法の開発が重要である.<br>

  Common variable immunodeficiency is one of the most common primary immunodeficiency that is categorized into primary antibody deficiency. The responsible genes identified so far include <i>ICOS</i>, <i>TACI</i>, <i>CD19</i>, <i>CD20</i>, <i>CD21</i>, <i>CD81</i> and <i>BAFF</i>-R; and most of the CVID-causing genes are yet to be identified. <i>TACI</i> mutation is the most common one; however the direct contribution of TACI mutation to pathogenesis of CVID is not yet clear. One third to a half of the patients with CVID shows autoimmunity as well as malignancy in their course. It is of importance to develop diagnostic measure, to identify the disease causing genes, and to develop the optimal therapy.<br>

Journal

  • Japanese Journal of Clinical Immunology

    Japanese Journal of Clinical Immunology 35(1), 14-22, 2012-02-28

    The Japan Society for Clinical Immunology

References:  35

Cited by:  4

Codes

  • NII Article ID (NAID)
    10030465505
  • NII NACSIS-CAT ID (NCID)
    AN00357971
  • Text Lang
    JPN
  • Article Type
    Journal Article
  • ISSN
    09114300
  • Data Source
    CJP  CJPref  J-STAGE 
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