Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by recurrent bacterial and fungal infections, as well as dysregulated granuloma formation. It results from functional defect of the phagocytic nicotinamide adenine dinucleotide phosphate oxidase (NADPH). Autoimmune disorders have been reported more commonly in CGD patients than in the general population. Early diagnosis and management of autoimmune disorders may affect the course of CGD. We present a case of CGD with type 1 diabetes mellitus, a literature review reporting association of CGD and autoimmune diseases, and proposed mechanisms for the pathogenesis of autoimmune diseases in CGD.
All Science Journal Classification (ASJC) codes
- Pediatrics, Perinatology, and Child Health
- Immunology and Allergy
- Pulmonary and Respiratory Medicine