Open AccessEnfermedad granulomatosa crónica: infecciones múltiples como forma de presentación. Caso clínico pediátrico
Author(s) -
Mara Maydana,
Diana Cabanillas,
Lorena Regairaz,
Sofía Bastons,
Valeria Uriarte,
Mariel García,
María F Sosa,
Marta Vinuesa,
Paula Del Palacio,
J. Morales
Publication year - 2018
Publication title -
archivos argentinos de pediatría
Language(s) - Spanish
Resource type - Journals
SCImago Journal Rank - 0.236
H-Index - 19
eISSN - 1668-3501
pISSN - 0325-0075
DOI - 10.5546/aap.2018.e744
Subject(s) - medicine , microbiology and biotechnology , chronic granulomatous disease , serratia marcescens , staphylococcus aureus , bacteria , biology , immunology , escherichia coli , gene , biochemistry , genetics
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.