Hillmen P, Bessler M, Crawford D H, Luzzatto L
Department of Haematology, Royal Postgraduate Medical School, Hammersmith Hospital, London, UK.
Blood. 1993 Jan 1;81(1):193-9.
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired hemolytic disorder caused by a somatic mutation in a hematopoietic stem cell. The fact that, in some cases, not only myeloid but also lymphoid cells are affected suggests that the mutation has occurred in a multipotent stem cell. By studying the expression of CD59 antigen (membrane inhibitor of reactive lysis) and of decay accelerating factor (DAF) on the lymphocytes of 16 patients with PNH, we found an abnormal population of lymphocytes (with absent CD59 and DAF) in 10 cases. From 4 of these patients we were able to produce Epstein-Barr virus-immortalized lymphoblastoid cell lines (LCLs) that have a PNH phenotype (absent CD59, DAF, and CD48). PNH LCL cells have apparently normal DAF messenger RNA despite not having DAF on their surface. These cell lines will be a valuable resource for further investigation of the defect or defects underlying PNH.
阵发性睡眠性血红蛋白尿症（PNH）是一种由造血干细胞体细胞突变引起的获得性溶血性疾病。在某些情况下，不仅髓系细胞，而且淋巴系细胞也受到影响，这一事实表明该突变发生在多能干细胞中。通过研究16例PNH患者淋巴细胞上CD59抗原（反应性溶解膜抑制剂）和衰变加速因子（DAF）的表达，我们在10例患者中发现了异常淋巴细胞群（CD59和DAF缺失）。从其中4例患者中，我们成功建立了具有PNH表型（CD59、DAF和CD48缺失）的爱泼斯坦-巴尔病毒永生化淋巴母细胞系（LCLs）。尽管PNH LCL细胞表面没有DAF，但其DAF信使核糖核酸（mRNA）显然正常。这些细胞系将为进一步研究PNH潜在的一种或多种缺陷提供宝贵资源。
