Haeney M R, Thompson R A, Faulkner J, Mackintosh P, Ball A P
Clin Exp Immunol. 1980 Apr;40(1):16-24.
Isolated genetic deficiencies of complement components in man are rare. We describe two kindreds with inborn deficiencies of either C5 or C6 in which both propositi presented with recurrent bacterial meningitis. Neisseria meningitidis was isolated from the cerebrospinal fluid of the C5-deficient patient and bactericidal activity against his autologous meningococcus was absent from whole fresh patients' serum despite a rising titre of complement-fixing antibody. The stimulated movement of normal leucocytes was impaired in the presence of C5-deficient serum but not in the presence of C6-deficient serum; neither deficiency reduced significantly the complement-dependent opsonization of Saccharomyces cerevisiae. HLA typing and complement component phenotyping showed no segregation with the complement defect in either the C5- or C6-deficient families. Normal individuals and apparent heterozygotes with approximately half the normal levels of the relevant component were found in both families, in keeping with an autosomal codominant inheritance of the defects.
人类补体成分的孤立性遗传缺陷很少见。我们描述了两个家系,分别存在C5或C6的先天性缺陷,两个先证者均患有复发性细菌性脑膜炎。从C5缺陷患者的脑脊液中分离出脑膜炎奈瑟菌,尽管补体结合抗体滴度升高,但新鲜患者全血清中对其自身脑膜炎球菌的杀菌活性缺失。在存在C5缺陷血清的情况下,正常白细胞的刺激运动受损,但在存在C6缺陷血清的情况下则不受影响;两种缺陷均未显著降低酿酒酵母的补体依赖性调理作用。HLA分型和补体成分表型分析显示,在C5或C6缺陷家族中,补体缺陷均无分离现象。在两个家族中均发现了正常个体和相关成分水平约为正常水平一半的明显杂合子,这与缺陷的常染色体共显性遗传一致。