Agnello V
Arthritis Rheum. 1978 Jun;21(5 Suppl):S146-52.
The most prominent association of rheumatic diseases with hereditary complement deficiency is systemic lupus erythematosus (SLE) and discoid lupus erythematosus with homozygous C2 deficiency in females. The lupus disease in these patients differ from classic lupus in 1) the increased incidence of discoid lesions, 2) the low incidence of renal disease, 3) the low or absent titers of antibodies to native DNA, and 4) the infrequent finding of immunoglobulin and complement in skin lesions. The strong positive linkage disequilibrium between C2 deficiency and HLA genes raises the possibility that genes other than those determining C2 levels may have the primary role in determining predisposition to disease in these patients. However, the finding of similar diseases in certain patients with hereditary angioedema and SLE-related syndrome who have acquired deficiency of the early components of complement supports a primary role of the C2 deficiency gene in predisposing to lupus disease in these patients.
风湿性疾病与遗传性补体缺乏最显著的关联是女性系统性红斑狼疮（SLE）和盘状红斑狼疮伴纯合子C2缺乏。这些患者的狼疮疾病与典型狼疮的不同之处在于：1）盘状皮损发生率增加；2）肾脏疾病发生率低；3）抗天然DNA抗体滴度低或无；4）皮肤病变中免疫球蛋白和补体的发现不常见。C2缺乏与HLA基因之间强烈的正连锁不平衡增加了一种可能性，即除了决定C2水平的基因外，其他基因可能在决定这些患者的疾病易感性方面起主要作用。然而，在某些患有遗传性血管性水肿和SLE相关综合征且已获得补体早期成分缺乏的患者中发现类似疾病，支持了C2缺乏基因在这些患者易患狼疮疾病方面的主要作用。
