Fischer A, Seger R, Durandy A, Grospierre B, Virelizier J L, Le Deist F, Griscelli C, Fischer E, Kazatchkine M, Bohler M C
J Clin Invest. 1985 Dec;76(6):2385-92. doi: 10.1172/JCI112251.
A patient presenting delayed umbilical cord detachment, severe recurrent bacterial infections, and inability to form pus exhibited a profound defect in the expression of alpha- and beta-chains of the receptor for the C3bi fragment of C3 (CR3), lymphocyte function antigen 1 (LFA-1) molecule, and the p150,95 molecule found on neutrophils, monocytes, and lymphocyte membranes. This was shown by immunofluorescence studies using specific monoclonal antibodies, rosette formation with C3bi-coated erythrocytes, and immunoprecipitation for the LFA-1 complex. These membrane defects were responsible for abnormal phagocytic cell functions including adherence to nylon wool, cell movement, phagocytosis, and opsonized particle-induced oxidative response and for defective natural killer cell activity. In addition, lymphocyte function deficiencies previously unobserved in this disease were found. Cytolytic T lymphocyte activity was profoundly reduced; alpha- and gamma-interferon production were impaired. Finally, there was no antibody production to vaccinal antigens whereas the antibody responses to polysaccharides and to cytomegalovirus were found to be normal. The cytotoxic T cell deficiency could be expected from previous blocking experiments of this function with monoclonal antibodies to LFA-1 and is probably related to an extremely severe deficiency in LFA-1 expression in this patient. Anomalies in interferon and in antibody production suggest additional role(s) of the LFA-1 complex in monocyte/T lymphocyte/B lymphocyte cell interactions that have not yet been envisaged.
一名出现脐带延迟脱落、严重反复细菌感染且无法形成脓液的患者,其C3(补体3)的C3bi片段受体的α链和β链、淋巴细胞功能相关抗原1(LFA - 1)分子以及在中性粒细胞、单核细胞和淋巴细胞膜上发现的p150,95分子的表达存在严重缺陷。这通过使用特异性单克隆抗体的免疫荧光研究、与C3bi包被红细胞的花环形成以及对LFA - 1复合物的免疫沉淀得以证实。这些膜缺陷导致吞噬细胞功能异常,包括对尼龙毛的黏附、细胞移动、吞噬作用以及调理素化颗粒诱导的氧化反应,还导致自然杀伤细胞活性缺陷。此外,发现了该疾病先前未观察到的淋巴细胞功能缺陷。细胞毒性T淋巴细胞活性显著降低;α干扰素和γ干扰素的产生受损。最后,对疫苗抗原无抗体产生,而对多糖和巨细胞病毒的抗体反应正常。细胞毒性T细胞缺陷可从先前用LFA - 1单克隆抗体阻断该功能的实验中预期到,并且可能与该患者LFA - 1表达的极其严重缺陷有关。干扰素和抗体产生的异常表明LFA - 1复合物在单核细胞/T淋巴细胞/B淋巴细胞细胞相互作用中还有尚未被设想的其他作用。