Glöckel U, Schneider P M, Beck J D, Brade V
Klinik für Kinder und Jugendliche, Universität Erlangen-Nürnberg.
Monatsschr Kinderheilkd. 1990 Jul;138(7):399-402.
The 1-year old girl died of recurrent bacterial meningitis. Streptococcus pneumoniae was isolated from the cerebrospinal fluid. The analysis of the immune system revealed only a defect of the complement system. The following results were obtained: 1. No function of the classical complement pathway. 2. Reduced function of the alternative complement pathway. 3. No functional C2 activity. 4. No C2 protein. The parents had half normal C2 titers. HLA typing was only possible for the parents with the following results: A1, A32(w19), B18, DR2, DRw11(5) (father) and A3, A10, B18, B7, DR2 (mother). These data are compatible with a B18, DR2 haplotype of the child which is found in most cases of homozygous C2 deficiency. Our patient list another example for the high risk of recurrent severe infectious diseases in persons with a total complement defect.
这名1岁女童死于复发性细菌性脑膜炎。脑脊液中分离出肺炎链球菌。免疫系统分析显示仅补体系统存在缺陷。获得了以下结果：1. 经典补体途径无功能。2. 替代补体途径功能降低。3. 无功能性C2活性。4. 无C2蛋白。父母的C2滴度为正常水平的一半。仅对父母进行了HLA分型，结果如下：A1、A32（w19）、B18、DR2、DRw11（5）（父亲）和A3、A10、B18、B7、DR2（母亲）。这些数据与该儿童的B18、DR2单倍型相符，在大多数纯合C2缺乏病例中都能发现这种单倍型。我们的患者为全补体缺陷者复发性严重感染性疾病的高风险提供了另一个例证。
