Desjardins Anne, Coignard-Biehler Hélène, Mahlaoui Nizar, Frange Pierre, Bougnoux Marie-Elisabeth, Blanche Stéphane, Fischer Alain, Blumental Sophie, Lortholary Olivier
Service de maladies infectieuses et tropicales, Hôpital Necker Enfants-malades, Paris, France.
Med Sci (Paris). 2012 Nov;28(11):963-9. doi: 10.1051/medsci/20122811015. Epub 2012 Nov 12.
Chronic granulomatous disease is a genetic disorder responsible for a defect in the NADPH oxidase of phagocytic cells. It impairs the oxidative burst necessary to the intracellular inactivation of microorganisms and predisposes to an increased risk of infections by various microorganisms, including fungi like Aspergillus spp. and other less frequently encountered or emerging fungal species. Here we review the genetic basis, pathogenesis and clinical presentation associated with fungal infections in chronic granulomatous disease as well as the current prophylaxis and newly available therapies.
慢性肉芽肿病是一种遗传性疾病，是由吞噬细胞的烟酰胺腺嘌呤二核苷酸磷酸（NADPH）氧化酶缺陷引起的。它损害了细胞内灭活微生物所必需的氧化爆发，并使机体易受各种微生物感染的风险增加，包括曲霉菌等真菌以及其他较少见或新出现的真菌种类。在此，我们综述了与慢性肉芽肿病真菌感染相关的遗传基础、发病机制和临床表现，以及目前的预防措施和新出现的治疗方法。
