Abstract

MAYDANA, Mara et al. Chronic granulomatous disease: multiple infections as clinical presentation. Pediatric case report. Arch. argent. pediatr. [online]. 2018, vol.116, n.6, pp.e744-e748. ISSN 0325-0075.  http://dx.doi.org/10.5546/aap.2018.e744.

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.

Keywords : Chronic granulomatous disease; Pulmonary aspergillosis; Osteomyelitis; Granuloma; Immunologic deficiency syndromes.

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