X連鎖重症複合免疫不全症

英

X-linked severe combined immunodeficiency, X-linked combined immunodeficiency disease, XSCID, X-linked SCID

同

X連鎖重症複合免疫不全

関

SCID、ジトリン症候群

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X連鎖重症複合免疫不全症 : 約 7,330 件
X連鎖重症複合免疫不全 : 約 8,020 件
X連鎖性複合免疫不全症 : 27 件

病因

• deficiency in IL-2 receptor γ chain (common gamma chain(γ_c))
• deficiency in JAK3
• deficiency in IL-7 receptor

病態

• T cell and NK cells fail to develop normally, whereas B-cell numbers, but not function, are normal(IMM.517)