X連鎖重症複合免疫不全症

重症複合免疫不全症(SCID)はT細胞に分化障害があり,さらにB細胞, NK細胞の機能異常などを伴う原発性の免疫不全症で,発症頻度は約10万人に1人と比較的稀な疾患である.患児は生後数カ月以内から呼吸器系や腸管の感染症を繰り返し,骨髄移植などの根本的治療が施されなければ乳幼児期に死亡する重篤な疾患である. X連鎖重症複合免疫不全症(X-SCID)はSCIDの約半数を占め,免疫学的特徴としてはT細胞およびNK細胞が欠如あるいは著減し, B細胞も機能的に異常であることが挙げられる. 本稿ではX-SCIDについて,その原因遺伝子である共通γ鎖(γc鎖)の発見,病態形成におけるサイトカインの役割,特に...

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Published in日本臨床免疫学会会誌 Vol. 25; no. 1; pp. 140 - 145
Main Author 久間木, 悟
Format Journal Article
LanguageJapanese
Published 日本臨床免疫学会 2002
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Abstract 重症複合免疫不全症(SCID)はT細胞に分化障害があり,さらにB細胞, NK細胞の機能異常などを伴う原発性の免疫不全症で,発症頻度は約10万人に1人と比較的稀な疾患である.患児は生後数カ月以内から呼吸器系や腸管の感染症を繰り返し,骨髄移植などの根本的治療が施されなければ乳幼児期に死亡する重篤な疾患である. X連鎖重症複合免疫不全症(X-SCID)はSCIDの約半数を占め,免疫学的特徴としてはT細胞およびNK細胞が欠如あるいは著減し, B細胞も機能的に異常であることが挙げられる. 本稿ではX-SCIDについて,その原因遺伝子である共通γ鎖(γc鎖)の発見,病態形成におけるサイトカインの役割,特に最近発見されたIL-21の関与,診断および治療法について解説する。
AbstractList 重症複合免疫不全症(SCID)はT細胞に分化障害があり,さらにB細胞, NK細胞の機能異常などを伴う原発性の免疫不全症で,発症頻度は約10万人に1人と比較的稀な疾患である.患児は生後数カ月以内から呼吸器系や腸管の感染症を繰り返し,骨髄移植などの根本的治療が施されなければ乳幼児期に死亡する重篤な疾患である. X連鎖重症複合免疫不全症(X-SCID)はSCIDの約半数を占め,免疫学的特徴としてはT細胞およびNK細胞が欠如あるいは著減し, B細胞も機能的に異常であることが挙げられる. 本稿ではX-SCIDについて,その原因遺伝子である共通γ鎖(γc鎖)の発見,病態形成におけるサイトカインの役割,特に最近発見されたIL-21の関与,診断および治療法について解説する。
Author 久間木, 悟
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