Levy S B, Pinnell S R, Meadows L, Snyderman R, Ward F E
Arch Dermatol. 1979 Jan;115(1):57-61.
Selective congenital deficiency in the second component of complement has been described in association with lupus erythematosus (LE) and other connective tissue disorders. We identified a 59-year-old woman with a 13-year history of cutaneous LE and no detectable serum C2. The patient's photosensitivity, large polycyclic erosive cutaneous lesions, lack of renal disease, paucity of serological findings, and high incidence of bacterial infection is consistent with previously described patients with this association. Uniquely, the patient demonstrated secondary infection with Staphylococcus aureus and Trichophyton rubrum in the skin lesions themselves. Immunologic studies disclosed depression in both humoral and cellular immunity. Moderation in her clinical disease and immunologic measurements has been observed after treatment with levamisole hydrochloride. Immunogenetic studies of the patient's four-generation kindred was consistent with an autosomal recessive inheritance of C2 deficiency genetically linked to HLA, segregating with the B18 allele. Mixed lymphocyte culture determinations reinforce evidence for linkage between the HLA-D locus and the trait for C2 deficiency.
已报道选择性先天性补体第二成分缺乏与红斑狼疮（LE）及其他结缔组织疾病相关。我们发现一名59岁女性，有13年皮肤型LE病史，血清中检测不到C2。该患者的光敏性、巨大的多环糜烂性皮肤损害、无肾脏疾病、血清学检查结果较少以及细菌感染发生率高，与先前描述的患有这种关联疾病的患者一致。独特的是，该患者在皮肤损害本身出现了金黄色葡萄球菌和红色毛癣菌的继发感染。免疫学研究显示体液免疫和细胞免疫均有抑制。用盐酸左旋咪唑治疗后，观察到其临床疾病和免疫指标有所缓解。对该患者四代亲属的免疫遗传学研究结果符合与HLA基因连锁的C2缺乏的常染色体隐性遗传，与B18等位基因分离。混合淋巴细胞培养测定进一步证实了HLA - D位点与C2缺乏性状之间存在连锁关系。
