Segal A W
Department of Medicine, University College London, UK.
Mol Med Today. 1996 Mar;2(3):129-35. doi: 10.1016/1357-4310(96)88723-5.
Chronic granulomatous disease (CGD) is characterized by severe, protracted and often fatal infection, which results from a failure of the NADPH oxidase enzyme system in the patient's phagocytes to produce superoxide. The NADPH oxidase enzyme system is composed of a number of interacting components, the absence of any one of which causes failure of the system as a whole. Investigation of individuals with CGD has led to the identification of the different protein components and the genes coding for them. CGD is particularly well suited to treatment by gene therapy and is likely to be one of the earliest monogenic conditions to be successfully treated in this way.
慢性肉芽肿病（CGD）的特征是严重、持久且往往致命的感染，这是由于患者吞噬细胞中的NADPH氧化酶系统无法产生超氧化物所致。NADPH氧化酶系统由多个相互作用的成分组成，其中任何一个成分的缺失都会导致整个系统失效。对CGD患者的研究已导致鉴定出不同的蛋白质成分及其编码基因。CGD特别适合通过基因疗法进行治疗，并且很可能是最早通过这种方式成功治疗的单基因疾病之一。
