Kalra Neelu, Ghaffari Gisoo
Department of Allergy, Asthma, and Immunology, Penn State University Hershey Medical Center, Hershey, Pennsylvania.
Pediatr Allergy Immunol Pulmonol. 2014 Sep;27(3):147-150. doi: 10.1089/ped.2014.0369. Epub 2014 Jul 16.
Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by recurrent bacterial and fungal infections, as well as dysregulated granuloma formation. It results from functional defect of the phagocytic nicotinamide adenine dinucleotide phosphate oxidase (NADPH). Autoimmune disorders have been reported more commonly in CGD patients than in the general population. Early diagnosis and management of autoimmune disorders may affect the course of CGD. We present a case of CGD with type 1 diabetes mellitus, a literature review reporting association of CGD and autoimmune diseases, and proposed mechanisms for the pathogenesis of autoimmune diseases in CGD.
慢性肉芽肿病（CGD）是一种原发性免疫缺陷病，其特征为反复发生细菌和真菌感染以及肉芽肿形成失调。它是由吞噬性烟酰胺腺嘌呤二核苷酸磷酸氧化酶（NADPH）的功能缺陷引起的。据报道，CGD患者中自身免疫性疾病的发生率高于普通人群。自身免疫性疾病的早期诊断和管理可能会影响CGD的病程。我们报告一例患有1型糖尿病的CGD病例，对有关CGD与自身免疫性疾病关联的文献进行综述，并提出CGD中自身免疫性疾病发病机制的相关假说。
