Douglass M C, Lamberg S I, Lorincz A L, Good R A, Day N K
Arch Dermatol. 1976 May;112(5):671-4.
Several cases of isolated C2 deficiency in man have been reported in the medical literature. The earliest cases did not seem to be associated with known diseases or syndromes; more recently, reports of C2 deficiency associated with systemic lupus erythematosus; anaphylactoid purpura, recurrent infections, and dermatomyositis have appeared. We report here another case of C2 deficiency. The propositus, a 24-year-old woman, had a lupus erythematosus-like rash and a history of arthralgia, as well as a selective deficiency of C2. Studies of hemolytic C2 of the immediate members of her family indicate an autosomal-recessive mode of inheritance. These findings add to the increasing evidence that a C2 deficiency predisposes some persons to serious vascular diseases.
医学文献中已报道了数例人类孤立性C2缺乏症病例。最早的病例似乎与已知疾病或综合征无关；最近，出现了与系统性红斑狼疮、过敏性紫癜、反复感染和皮肌炎相关的C2缺乏症报告。我们在此报告另一例C2缺乏症病例。先证者是一名24岁女性，有类似红斑狼疮的皮疹和关节痛病史，同时存在选择性C2缺乏。对其家族直系成员的溶血C2研究表明为常染色体隐性遗传模式。这些发现进一步证明了C2缺乏使一些人易患严重血管疾病这一越来越多的证据。
