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与复发性脑膜炎球菌感染相关的补体第七成分家族性缺乏症。

Familial deficiency of the seventh component of complement associated with recurrent meningococcal infections.

作者信息

Nürnberger W, Pietsch H, Seger R, Bufon T, Wahn V

机构信息

Abteilung für Neonatologie und Gastroenterologie der Universität, Düsseldorf, Federal Republic of Germany.

出版信息

Eur J Pediatr. 1989 Aug;148(8):758-60. doi: 10.1007/BF00443104.

Abstract

We describe an 11-year-old girl suffering from recurrent meningitis with a complete absence of the seventh component of complement (C7). Diagnosis was established by haemolytic titration and western blotting. The patient's serum lacked the 85 kDa C7 chain. Haemolytic activity of serum was reconstituted with either pooled normal human serum or with purified C7. The relatives (parents and one sister) had half-normal levels of both immunochemically and functionally determined C7, indicating a heterozygous state for C7 deficiency.

摘要

我们描述了一名11岁患有复发性脑膜炎的女孩,其补体第七成分(C7)完全缺失。通过溶血滴定和蛋白质印迹法确诊。患者血清缺乏85 kDa的C7链。用正常人混合血清或纯化的C7均可重建血清的溶血活性。亲属(父母和一个姐姐)免疫化学和功能测定的C7水平均为正常水平的一半,表明C7缺乏呈杂合状态。

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