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

Wiskott-Aldrich症候群

著者： 川村信明¹

所属機関： ¹北海道大学大学院医学研究科生殖発達医学講座小児科学分野

ページ範囲：P.581 - P.586

　Wiskott-Aldrich症候群(WAS)は湿疹・血小板減少・易感染性を3主徴とし，自己免疫・悪性疾患を高率に合併するX連鎖遺伝形式の疾患である．1994年に原因遺伝子(WASP)が同定され，その後X連鎖血小板減少症(XLT)やX連鎖好中球減少症(XLN)でもWASP遺伝子変異が確認された．WASPはアクチン細胞骨格調節に重要な蛋白であり，その機能障害ではWAS/XLTの臨床像を呈し，その過剰発現ではXLNを呈する．WASP発現細胞を認め臨床的に軽症化している体細胞モザイク症例も存在し，遺伝子変異の反転が確認されている．根治療法として，造血幹細胞移植以外にも遺伝子治療研究が進められている．

参考文献

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