McCarty D J, Tan E M, Zvaifler N J, Koethe S, Duquesnoy R J
Am J Med. 1981 Dec;71(6):945-8. doi: 10.1016/0002-9343(81)90311-9.
Twelve family members of a patient with systemic lupus erythematosus (SLE) and heterozygous deficiency of the second component of complement (C2) were studied. Histocompatibility (HLA) typing was determined for A, B, and DR and MB antigens. Serum samples were tested for a variety of antinuclear antibodies (ANA), lymphocytotoxic antibodies and rheumatoid factors, and C2 levels were determined by hemolytic titration. Inheritance of C2D, the gene coding for C2, was limited to the haplotype HLA-A25, B18, DR2. Low but significant titers of ANA, rheumatoid arthritis nuclear antigen (RANA) and/or rheumatoid factors were found in eight of the nine adult family members without association with HLA haplotype. The sister of the proband had persistently strongly positive LE cell preparations for more than a decade and had joint pains while taking sulfa drugs. The son of the proband had leukemia. All other family members were healthy. We conclude that the increased incidence of rheumatic disease in persons with C2D deficiency is multifactorial and requires environmental factors or other hereditary factors unrelated to the HLA-A25, B18, DR2 haplotype. The C2D gene is clearly not associated with positive ANA tests or immunoprecipitins to RANA.
对一名患有系统性红斑狼疮（SLE）且补体第二成分（C2）杂合缺陷的患者的12名家庭成员进行了研究。对A、B、DR和MB抗原进行了组织相容性（HLA）分型。检测血清样本中的多种抗核抗体（ANA）、淋巴细胞毒性抗体和类风湿因子，并通过溶血滴定法测定C2水平。编码C2的基因C2D的遗传仅限于单倍型HLA - A25、B18、DR2。在9名成年家庭成员中的8名中发现了低但显著的ANA、类风湿关节炎核抗原（RANA）和/或类风湿因子滴度，且与HLA单倍型无关。先证者的姐姐十多年来LE细胞制剂一直呈强阳性，服用磺胺类药物时有关节疼痛。先证者的儿子患有白血病。所有其他家庭成员均健康。我们得出结论，C2D缺陷者风湿性疾病发病率增加是多因素的，需要环境因素或与HLA - A25、B18、DR2单倍型无关的其他遗传因素。C2D基因显然与ANA检测阳性或针对RANA的免疫沉淀物无关。
