McPherson A J, McKenzie I, Castaldi P A, Stewart G J
Aust J Exp Biol Med Sci. 1978 Feb;56(1):81-98. doi: 10.1038/icb.1978.9.
A patient presenting with a syndrome probably due to immune complex deposition was investigated and found to possess an inherited C2 complement deficiency. Family studies indicated that the deficiency was transmitted as an autosomal recessive trait. HLA typing for the HLA-A and HLA-B specificities and HLA-D specificities indicated a close linkage between the HLA and C2 genes, as has been described elsewhere. The HLA-A and B locus specificities HLA-AW25 and HLA-B18 were coded for by each of the two chromosomes carrying the C2(0) gene. However, the two chromosomes differed at the HLA-D locus, as one coded for HLA-DW2 whilst the other did not. This case, therefore, provides a unique haplotype and may be of importance in mapping the C2(0) locus, as it suggests that the gene order on chromosome 6 is HLA-D, C2(0), HLA-B, HLA-A. Extensive complement component assays indicated that utilization of complement in the patient was occurring via the alternate complement pathway. It is suggested that, as a result of the C2 deficiency, infections with viruses and other agents could lead to an immune complex disease due to an impaired capacity to effectively eliminate circulating complexes.
一名表现出可能由免疫复合物沉积引起的综合征的患者接受了检查，发现其患有遗传性C2补体缺陷。家族研究表明，这种缺陷以常染色体隐性性状遗传。对HLA - A和HLA - B特异性以及HLA - D特异性进行的HLA分型表明，HLA与C2基因之间存在紧密连锁，这在其他地方已有描述。携带C2(0)基因的两条染色体各自编码HLA - A和B位点特异性HLA - AW25和HLA - B18。然而，这两条染色体在HLA - D位点存在差异，一条编码HLA - DW2，而另一条则不编码。因此，该病例提供了一种独特的单倍型，可能对绘制C2(0)位点图谱具有重要意义，因为它表明6号染色体上的基因顺序是HLA - D、C2(0)、HLA - B、HLA - A。广泛的补体成分检测表明，该患者体内补体的利用是通过替代补体途径进行的。有人提出，由于C2缺陷，病毒和其他病原体感染可能会导致免疫复合物疾病，因为有效清除循环复合物的能力受损。
