Zekanowski C, Skopczyńska H
Zakład Genetyki IMD, Warszawa.
Med Wieku Rozwoj. 1999 Jan-Mar;3(1):113-22.
Chronic granulomatous disease (CGD) is characterized by severe, protracted and often fatal infections, which results from a failure of the NADPH oxidase enzyme system in the patient's phagocytes to produce reactive oxygen species (ROS). The NADPH oxidase enzyme is a system composed of a number of interacting cytosol and membrane components. The absence of any of the components causes failure of the system. Mutations in the genes coding various parts of the oxidase system cause CGD.
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活性氧(ROS)所致。NADPH氧化酶是一个由许多相互作用的胞质溶胶和膜成分组成的系统。任何一个成分的缺失都会导致该系统失效。编码氧化酶系统各个部分的基因突变会导致慢性肉芽肿病。