Abstract
Chronic granulomatous disease (CGD) is an uncommon primary immunodeficiency typically with X-linked inheritance caused by mutation in the gene encoding p91-phox (CYBB; 300481). Advances in management include more efficacious antimicrobial and antifungal prophylaxis with trimethoprim-sulfamethoxazole (Bactrim), use of interferon-gamma (IFN-γ), and use of hematopoietic stem cell transplantation (HSCT). The median age of death remains 30 to 40 years.
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