Walport M J, Ross G D, Mackworth-Young C, Watson J V, Hogg N, Lachmann P J
Clin Exp Immunol. 1985 Mar;59(3):547-54.
It has been claimed that patients with systemic lupus erythematosus (SLE) have an inherited deficiency of erythrocyte complement receptor type 1 (CR1, with ligand binding specificity for C3b, iC3b and C4b). CR1 functions as the only cofactor for factor I-mediated cleavage of iC3b to C3c and C3dg. The activity of this receptor on red cells may be an important mechanism for handling immune complexes which have bound C3b or iC3b. Radioligand binding studies were performed using a monoclonal antibody to CR1, E11, to enumerate these receptors accurately. The results confirmed that patients with SLE have a reduced number of CR1 molecules per red cell, but showed no reduction in CR1 levels amongst their consanguineous relatives. Study of 13 normal families suggested the presence of heritable factors controlling the numbers of erythrocyte CR1 molecules; in particular there was a correlation between mean parental CR1 numbers and CR1 numbers in their children. However, amongst 17 families of 19 patients with SLE, four families were identified in which genotypically 'high CR1' SLE patients had persistently low phenotypes. This is not compatible with the hypothesis that the reduction in erythrocyte CR1 numbers in these patients is inherited.
据称,系统性红斑狼疮(SLE)患者存在遗传性红细胞补体受体1(CR1,对C3b、iC3b和C4b具有配体结合特异性)缺陷。CR1作为I因子介导的iC3b裂解为C3c和C3dg的唯一辅助因子。红细胞上该受体的活性可能是处理已结合C3b或iC3b的免疫复合物的重要机制。使用抗CR1单克隆抗体E11进行放射性配体结合研究,以准确计数这些受体。结果证实,SLE患者每个红细胞的CR1分子数量减少,但在其近亲中CR1水平未降低。对13个正常家庭的研究表明存在控制红细胞CR1分子数量的遗传因素;特别是父母的平均CR1数量与其子女的CR1数量之间存在相关性。然而,在19例SLE患者的17个家庭中,发现有4个家庭中基因型为“高CR1”的SLE患者其表型持续较低。这与这些患者红细胞CR1数量减少是遗传性的假设不相符。