Molecular Genetics of Chronic Granulomatous Disease

摘要: Chronic granulomatous disease (COD) is an uncommon inherited disorder in which phagocytic cells (neutrophils, monocytes, macrophages, and eosinophils) fail to produce antimicrobial oxidants (1, 2). Affected individuals have traditionally suffered from recurrcnt often life­ threatening bacterial fungal infections . In fact, upon its recogni­ tion as a clinical entity nearly 30 years ago, the was termed "fatal disease" (3), attests severity pro­ gressive nature of witnessed CGD patients. Although it rare condition, has been focal point for research efforts define biochemical events that participate cellular production major oxidant, superoxide anion. The underlying theme identification specific defect(s) pathway generation characterize would provide understanding normal biochemistry this important host defense system and, perhaps, suggest new approaches treatment condition or modulation tissue oxidant damage inflammatory states. While physiologic deficiencies phagocytes COD patients recognized two decades (4), only late some components superoxide-generating fractionated more recently, shown be primarily affected gene products CGD. definitive genetic solutions long-standing questions posed by recently attained,