Dinauer M C, Orkin S H
Division of Hematology/Oncology, Children's Hospital, Dana Farber Cancer Institute, Boston, Massachusetts.
Annu Rev Med. 1992;43:117-24. doi: 10.1146/annurev.me.43.020192.001001.
Chronic granulomatous disease (CGD) encompasses a group of rare inherited disorders characterized by defects in a phagocyte-specific NADPH-oxidase complex that forms the superoxide radical during the respiratory burst. In this chapter, the protein components and cellular biochemistry of the oxidase are reviewed in light of recent genetic and biochemical studies of CGD. The classification and molecular genetic analysis of CGD is discussed. Finally, the use of recombinant human interferon-gamma as a new therapeutic agent for management of the disorder is reviewed.
慢性肉芽肿病（CGD）是一组罕见的遗传性疾病，其特征是吞噬细胞特异性NADPH氧化酶复合物存在缺陷，该复合物在呼吸爆发过程中形成超氧阴离子自由基。在本章中，根据最近对CGD的遗传学和生物化学研究，对氧化酶的蛋白质成分和细胞生物化学进行了综述。讨论了CGD的分类和分子遗传学分析。最后，综述了重组人干扰素-γ作为治疗该疾病的新型治疗药物的应用。
