Stohl W, Crow M K, Kunkel H G
N Engl J Med. 1985 Jun 27;312(26):1671-8. doi: 10.1056/NEJM198506273122604.
Three black Jamaicans with systemic lupus erythematosus (SLE) were identified whose T helper/inducer cells lacked the T4 epitope (T4 epitope-deficient phenotype). All three patients had lymphadenopathy as part of their syndromes. The asymptomatic and otherwise healthy T4 epitope-deficient brother of one of these patients also had lymphadenopathy in a distribution identical to that of his sister with SLE. Family studies pointed to an autosomal codominant mode of inheritance not linked to the HLA locus for the T4 epitope phenotype. Cultures of peripheral-blood mononuclear cells revealed impaired B-cell differentiation upon stimulation with pokeweed mitogen in cells originating from the T4 epitope-deficient family members as compared with those originating from their T4 epitope-intermediate relatives. Ratios of T helper/inducer cells to T suppressor/cytotoxic cells, the presence of various autoantibodies, and proliferation in response to mitogens and in the mixed lymphocyte reactions did not correlate with T4 epitope phenotype. We suggest that SLE in association with the T4 epitope-deficient phenotype may represent a unique subset of patients with SLE that has distinct clinical and immunologic properties.
我们发现了三名患有系统性红斑狼疮（SLE）的牙买加黑人，他们的辅助性T/诱导性T细胞缺乏T4表位（T4表位缺陷型）。这三名患者都有淋巴结病，是其综合征的一部分。其中一名患者无症状且健康的T4表位缺陷型兄弟也有淋巴结病，其分布与他患SLE的姐姐相同。家族研究表明，T4表位表型的遗传方式为常染色体共显性，与HLA位点无关。与来自T4表位中间型亲属的外周血单个核细胞相比，来自T4表位缺陷型家族成员的外周血单个核细胞在用商陆有丝分裂原刺激后，B细胞分化受损。辅助性T/诱导性T细胞与抑制性T/细胞毒性T细胞的比例、各种自身抗体的存在以及对有丝分裂原和混合淋巴细胞反应的增殖情况与T4表位表型无关。我们认为，与T4表位缺陷型相关的SLE可能代表了具有独特临床和免疫学特性的SLE患者的一个独特亚组。
