经典途径晚期补体缺乏所致免疫缺陷

Immunodeficiency due to a late component of complement deficiency

ORPHA:169150疾病

定义

补体终末成分缺乏所致免疫缺陷病是一种原发性免疫缺陷病，由于补体成分C5、C6、C7、C8或C9异常所致，其典型临床表现为脑膜炎球菌反复感染而导致脑膜炎反复发作，总体预后良好。

C5至C9补体缺乏所致免疫缺陷

基因	名称	关联类型
C5	complement C5	Disease-causing germline mutation(s) in
C6	complement C6	Disease-causing germline mutation(s) in
C7	complement C7	Disease-causing germline mutation(s) in
C8A	complement C8 alpha chain	Disease-causing germline mutation(s) in
C8B	complement C8 beta chain	Disease-causing germline mutation(s) in
C8G	complement C8 gamma chain	Disease-causing germline mutation(s) in
C9	complement C9	Disease-causing germline mutation(s) in

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