臨床検査53巻5号

2009年05月発行

今月の主題 免疫不全症候群と遺伝子異常 各疾患の遺伝子異常，診断と治療

分類不能型免疫不全症候群および免疫グロブリンサブクラス欠損症

著者： 金子英雄¹ 近藤直実²

所属機関： ¹岐阜大学大学院医学系研究科地域医療医学センター ²岐阜大学大学院医学系研究科地域医療医学センター・小児病態学

ページ範囲：P.569 - P.574

　分類不能型免疫不全症候群(CVID)は先天性免疫不全症のなかで最も頻度の高い疾患であり，易感染と抗体産生不全を特徴とする．CVIDは様々な病態が混在している症候群であるが，その一部は病因遺伝子が明らかになってきた．CVIDの治療法は，免疫グロブリン置換療法が主体であるが，今後，個々の病態に合わせた治療開発が期待されている．免疫グロブリンサブクラス欠損症，IgA欠損症でも，一部の遺伝子異常が明らかにされてきたが，今後，さらに病態を明らかにしていく必要がある．

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