Thrasher A, Chetty M, Casimir C, Segal A W
Department of Medicine, Rayne Institute, University College London, UK.
Blood. 1992 Sep 1;80(5):1125-9.
Failure of a superoxide generating system, the NADPH oxidase, present in neutrophils and other phagocytes gives rise to chronic granulomatous disease (CGD), a group of single-gene inherited disorders all characterized by an extreme susceptibility to pyogenic infection, with potentially fatal consequences. About 30% of CGD cases are caused by an autosomally inherited deficiency of a 47-Kd cytoplasmic component of the oxidase (p47-phox). Epstein-Barr virus (EBV) immortalized B-lymphocyte lines established from these CGD patients also express this NADPH oxidase defect and consequently are rendered incapable of generating superoxide on stimulation. We have used a p47-phox-deficient EBV-transformed B-cell line as a recipient for retroviral transfer of a functional p47-phox cDNA. The presence and activity of the retrovirally encoded p47-phox in the transduced cells is demonstrated and we show that this restores their capacity to generate superoxide.
存在于中性粒细胞和其他吞噬细胞中的超氧化物生成系统——NADPH氧化酶功能缺失会引发慢性肉芽肿病（CGD），这是一组单基因遗传性疾病，其共同特征是极易发生化脓性感染，可能会导致致命后果。约30%的CGD病例是由常染色体遗传的氧化酶47-Kd细胞质成分（p47-phox）缺陷引起的。从这些CGD患者身上建立的爱泼斯坦-巴尔病毒（EBV）永生化B淋巴细胞系也表现出这种NADPH氧化酶缺陷，因此在受到刺激时无法产生超氧化物。我们使用了一种p47-phox缺陷的EBV转化B细胞系作为功能性p47-phox cDNA逆转录病毒转移的受体。证明了转导细胞中逆转录病毒编码的p47-phox的存在和活性，并且我们表明这恢复了它们产生超氧化物的能力。
