Lee S L, Wallace S L, Barone R, Blum L, Chase P H
Arthritis Rheum. 1978 Nov-Dec;21(8):958-67. doi: 10.1002/art.1780210813.
Complete absence of C1r and almost complete absence of C1s were found in 4 of 8 living siblings. Two of the 4 suffer from a syndrome that combines discoid lupus erythematosus and nondeforming rheumatoid-like arthritis; one of the siblings has mild nephritis. The other 2 C1 deficient family members are clinically well. Evidence from this and other families suggests that deficiency of C1 components or C4 is associated with higher risk of developing a lupus-like disease than is deficiency of C2.
在8名在世的兄弟姐妹中，有4人被发现完全缺乏C1r且几乎完全缺乏C1s。这4人中，有2人患有盘状红斑狼疮和非变形类风湿样关节炎相结合的综合征；其中一名兄弟姐妹患有轻度肾炎。另外2名C1缺乏的家庭成员临床状况良好。来自这个家族以及其他家族的证据表明，与C2缺乏相比，C1成分或C4缺乏会增加患狼疮样疾病的风险。
