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来自维基百科,自由的百科全书
严重复合型免疫缺乏症(英语:Severe combined immunodeficiency,缩写 SCID),泛指一群罕见的先天遗传性疾病,患者因为免疫功能缺乏 (例如 B 细胞或 T 细胞的发育不全、缺陷),使其几乎或完全无法对病原体具有免疫力,导致严重的重复性感染,来源包括细菌、病毒及霉菌,多数患者在出生后一年内死亡。[1]
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可导致 SCID 的基因非常多样,目前已经被证实的基因数量已经超过 20 个。[2]
名称 | 致病基因 | 淋巴球有无 | 遗传模式 | ||
---|---|---|---|---|---|
T 细胞 | B 细胞 | NK 细胞 | |||
X-linked SCID | γ chain for IL2,4,7,9,15,21 | - | +
(无功能) |
- | X-linked |
JAK3-SCID | JAK3 | - | +
(无功能) |
- | AR |
IL7Ra-SCID | IL7RA | - | + | + | AR |
CD45 deficiency | CD45 | - | + | - | AR |
ADA deficiency | ADA | - | - | - | AR |
RAG-deficient SCID | RAG1 | - | - | + | AR |
RAG2 | - | - | + | AR | |
Immunodeficiency 17 | CD3 | - | + | + | AR |
ZAP-70 kinase | ZAP70 | 仅有 CD4+ | + | + | AR |
MHC II deficiency | MHC class II | 仅有 CD8+ | + | + | AR |
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