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[慢性肉芽肿病:以多种感染为临床表现。儿科病例报告]

[Chronic granulomatous disease: multiple infections as clinical presentation. Pediatric case report].

作者信息

Maydana Mara, Cabanillas Diana, Regairaz Lorena, Bastons Sofía, Uriarte Valeria, García Mariel, Sosa María F, Vinuesa Marta, Del Palacio Paula, Morales Juan

机构信息

Servicio de Infectología, Hospital de Niños Sor María Ludovica.

Unidad de Inmunología, Hospital de Niños Sor María Ludovica.

出版信息

Arch Argent Pediatr. 2018 Dec 1;116(6):e744-e748. doi: 10.5546/aap.2018.e744.

Abstract

Chronic granulomatous disease is an uncommon primary immunodeficiency due to a defect of the killing activity of phagocytes, caused by mutations in any of the genes encoding subunits of the superoxide-generating phagocyte NADPH oxidase system. The incidence is 1 in 250 000 live births. It can occur from infancy to adulthood, usually in children under 2 years. Bacterial and fungal infections in association with granuloma lesions are the most common manifestations of the disease. Aspergillus species, Staphylococcus aureus, Serratia marcescens, Nocardia species are the most common microorganisms isolated. We describe here a case of a 1-year-old boy with chronic granulomatous disease and invasive pulmonary aspergillosis, Serratia marcescens osteomyelitis and Enterobacter cloacae cervical granuloma.

摘要

慢性肉芽肿病是一种罕见的原发性免疫缺陷病,由于吞噬细胞杀伤活性缺陷所致,该缺陷由编码超氧化物生成吞噬细胞NADPH氧化酶系统亚基的任何基因发生突变引起。发病率为每25万活产中有1例。可发生于婴儿期至成年期,通常见于2岁以下儿童。伴有肉芽肿病变的细菌和真菌感染是该病最常见的表现。曲霉菌属、金黄色葡萄球菌、粘质沙雷菌、诺卡菌属是最常分离出的微生物。我们在此描述一例1岁男孩,患有慢性肉芽肿病,并发侵袭性肺曲霉病、粘质沙雷菌骨髓炎和阴沟肠杆菌颈部肉芽肿。

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