Gelfand E W, Rao C P, Minta J O, Ham T, Purkall D B, Ruddy S
Am J Med. 1987 Mar 23;82(3 Spec No):671-5. doi: 10.1016/0002-9343(87)90122-7.
A nine-year-old white boy with recurrent pneumococcal bacteremia is described. His serum had no hemolytic activity in either the classic or alternative complement pathways. Absence of classic pathway activity was secondary to a homozygous deficiency of C2. The parents had half-normal levels of C2, compatible with an autosomal recessive mode of inheritance. Measurement of serum properdin levels by radial immunodiffusion and enzyme-linked immunoabsorbent assay revealed a profound deficiency in the patient, normal levels in the father, and half-normal levels in the mother, suggesting X-linked inheritance of the deficiency. Addition of purified properdin to the patient's serum fully reconstituted the alternative pathway function. This patient's unique combination of inherited deficiencies of properdin and C2 is a likely explanation for his susceptibility to bacterial infection.
本文描述了一名患有复发性肺炎球菌菌血症的9岁白人男孩。他的血清在经典补体途径和替代补体途径中均无溶血活性。经典途径活性缺失继发于C2纯合缺陷。父母的C2水平为正常水平的一半，符合常染色体隐性遗传模式。通过放射免疫扩散法和酶联免疫吸附测定法检测血清备解素水平，结果显示该患者严重缺乏备解素，父亲水平正常，母亲水平为正常水平的一半，提示该缺陷为X连锁遗传。向患者血清中添加纯化的备解素可完全恢复替代途径功能。该患者备解素和C2遗传性缺陷的独特组合可能是其易患细菌感染的原因。
