Division of Allergy, Immunology and Rheumatology, Department of Pediatrics, Columbia University Medical Center, New York, New York.
Division of Allergy and Clinical Immunology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.
J Pediatric Infect Dis Soc. 2018 May 9;7(suppl_1):S6-S11. doi: 10.1093/jpids/piy007.
Chronic granulomatous disease (CGD) is a rare primary immunodeficiency that is caused by defects in the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex. The disease presents in most patients initially with infection, especially of the lymph nodes, lung, liver, bone, and skin. Patients with CGD are susceptible to a narrow spectrum of pathogens, and Staphylococcus aureus, Burkholderia cepacia complex, Serratia marcescens, Nocardia species, and Aspergillus species are the most common organisms implicated in North America. Granuloma formation, most frequently in the gastrointestinal and genitourinary systems, is a common complication of CGD and can be seen even before diagnosis. An increased incidence of autoimmune disease has also been described in patients with CGD and X-linked female carriers. In patients who present with signs and symptoms consistent with CGD, a flow cytometric dihydrorhodamine neutrophil respiratory burst assay is a quick and cost-effective way to evaluate NADPH oxidase function. The purpose of this review is to highlight considerations for and challenges in the diagnosis of CGD.
慢性肉芽肿病（CGD）是一种罕见的原发性免疫缺陷病，由烟酰胺腺嘌呤二核苷酸磷酸（NADPH）氧化酶复合物缺陷引起。大多数患者最初表现为感染，尤其是淋巴结、肺、肝、骨和皮肤感染。CGD 患者易感染狭窄谱病原体，金黄色葡萄球菌、洋葱伯克霍尔德菌复合群、粘质沙雷氏菌、诺卡氏菌属和曲霉菌属是北美最常见的病原体。肉芽肿形成，最常见于胃肠道和泌尿生殖系统，是 CGD 的常见并发症，甚至在诊断之前就可以看到。CGD 患者和 X 连锁女性携带者也有自身免疫性疾病发病率增加的报道。对于有 CGD 临床表现和症状的患者，二氢罗丹明中性粒细胞呼吸爆发流式细胞术是一种快速且具有成本效益的方法，可以评估 NADPH 氧化酶功能。本文旨在强调 CGD 诊断中的注意事项和挑战。
