Riccardi S, Giordano D, Schettini F, De Mattia D, Lovecchio T, Santoro N, Fumarulo R
Scand J Haematol. 1986 Oct;37(4):333-6. doi: 10.1111/j.1600-0609.1986.tb02322.x.
Chronic granulomatous disease (CGD), an immunodeficiency syndrome characterized by extreme susceptibility to bacterial infections, is due to a defect of the respiratory burst in human phagocytes. NADPH oxidase, the enzyme that catalyzes the reduction of oxygen and the release of oxidative radicals, was studied in polymorphonuclear leucocytes (PMNs) in a family affected by an x-linked inheritance form at high penetrance of the disease. The contents of cytochrome b, suggested as the terminal component of the oxidase electron transport chain, and FAD, the hypothetical proximal component of the chain, were determined in patients and in carriers. Cytochrome b showed the typical behaviour of x-linked CGD: total absence in patients, intermediate values in carriers. FAD content evaluated on plasma membranes was less decreased than cytochrome b. Carriers also showed a decrease of this flavoprotein. Cytochrome b and FAD contents were compared to NBT test and superoxide production: a clear correlation was observed for the cytochrome b, but FAD plasma membrane evaluation could also be an interesting tool for the metabolic characterization of the disease in patients and in carriers.
慢性肉芽肿病（CGD）是一种免疫缺陷综合征，其特征是极易受到细菌感染，这是由于人类吞噬细胞呼吸爆发缺陷所致。研究了受X连锁显性遗传形式影响且疾病外显率高的一个家族中多形核白细胞（PMN）内的NADPH氧化酶，该酶催化氧的还原和氧化自由基的释放。测定了患者和携带者细胞色素b（被认为是氧化酶电子传递链的末端成分）以及黄素腺嘌呤二核苷酸（FAD，该链假定的近端成分）的含量。细胞色素b呈现出X连锁CGD的典型表现：患者体内完全缺失，携带者为中间值。在质膜上评估的FAD含量下降程度低于细胞色素b。携带者的这种黄素蛋白也有所减少。将细胞色素b和FAD含量与硝基四氮唑蓝（NBT）试验及超氧化物生成进行比较：观察到细胞色素b有明显相关性，但FAD质膜评估也可能是用于对患者和携带者疾病进行代谢特征分析的一个有趣工具。
