Delâge J M, Lehner-Netsch G, Lafleur R, Simard J, Brun G, Prochazka E
Immunology. 1979 Jun;37(2):419-28.
The sera of four sisters were found to lack the sixth component of complement (C6) and the serum of one was also partially deficient in the second component (C2). Two other blood relatives were found to be heterozygous for both deficiencies, while only one sibling had normal values. The father of these eight siblings was heterozygous for C2D and C6D and in the third generation, six children were heterozygous for C6 deficiency was treated for chronic active brucel-transmitted; the C6 deficiency was not linked to the HLA system, while the C2-deficiency segregated with the haplotype A10,B18. The proband, homozygous for C6 deficiency was treated for chronic active Brucellosis and in another sibling with C6 deficiency, toxoplasmosis was diagnosed. Neither bleeding disorders nor a tendency to collagen diseases have been observed and the opsonic activity was normal in the sera of all family members.
发现四姐妹的血清缺乏补体第六成分(C6),其中一人的血清还部分缺乏第二成分(C2)。另外两名血亲被发现这两种缺陷均为杂合子,而只有一个兄弟姐妹的值正常。这八个兄弟姐妹的父亲C2D和C6D为杂合子,在第三代中,六个孩子C6缺陷为杂合子,因慢性活动性布鲁氏菌传播而接受治疗;C6缺陷与HLA系统无关,而C2缺陷与单倍型A10、B18分离。先证者C6缺陷纯合子因慢性活动性布鲁氏菌病接受治疗,另一个有C6缺陷的兄弟姐妹被诊断为弓形虫病。未观察到出血性疾病或患胶原病的倾向,所有家庭成员血清中的调理活性均正常。