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Seven chronic granulomatous disease cases in a single-center experience and a review of the literature.
Asian Pacific Journal of Allergy and Immunology ( IF 2.3 ) Pub Date : 2017-6-5 , DOI: 10.12932/ap0859
Şeyhan Kutluğ 1 , Gülnar Şensoy 2 , Asuman Birinci 3 , Berkay Saraymen 4 , Mustafa Yavuz Köker 4, 5 , Alişan Yιldιran 1
Affiliation  

Chronic granulomatous disease (CGD) is a rare primary immunodeficiency caused by defects in the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase enzyme system. This disease causes the disordered functioning of phagocytic cells. It is characterized by life-threatening and/or recurrent infections by bacteria and fungi. CGD has both an X-linked recessive (X-CGD) and autosomal recessive (AR-CGD) phenotypes. AR form have four subtypes including defects with one of these NADPH oxidase components (p22, p40, p47 and p67phox).

中文翻译:

单中心经验的7例慢性肉芽肿病病例并文献复习。

慢性肉芽肿病(CGD)是由烟酰胺腺嘌呤二核苷酸磷酸(NADPH)氧化酶系统缺陷引起的罕见的原发性免疫缺陷。该疾病引起吞噬细胞功能紊乱。它的特征是细菌和真菌会威胁生命和/或反复感染。CGD具有X连锁隐性(X-CGD)和常染色体隐性(AR-CGD)表型。AR形式具有四个亚型,包括这些NADPH氧化酶成分之一的缺陷(p22,p40,p47和p67phox)。
更新日期:2020-08-21
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