Chronic granulomatous disease in childhood

Chronic granulomatous disease (GCD) of childhood is a rare inherited immunodeficiency. It is characterized clinically by the occurrence of severe and recurrent uncontrollable infections, which often lead to death in early childhood. The underlying biologic anomaly is a defective microbicidal capacity of phagocytosis with abnormal oxidative response during phagocytosis. Histologically, the GCD is characterized by a spectrum of histopathological features in a wide range of tissue specimens, often demonstrating features of active chronic inflammation, with or without non-caseating granuloma formation. The presence of numerous pigmented macrophages in association with such an inflammation should raise suspicion of the diagnosis. We report a case of a GCD in an 11-year-old boy and study the anatomoclinic features of this rare entity. (C) 2008 Elsevier Masson SAS. Tous droits reserves.