Adult-diagnosed Chronic Granulomatous Disease: The Need to Increase Awareness

Abstract

Chronic granulomatous disease is genetic disorder characterized by the inability of phagocytes to produce sufficient oxidative burst needed to kill intracellular organisms. Patients have recurrent, life-threatening infections involving multiple systems including the lungs, skin, lymph nodes, and liver. The majority of patients with chronic granulomatous disease are diagnosed in childhood although some may present in adulthood due to a milder phenotype. Unfortunately, these patients may also present with concomitant autoimmune diseases. We describe a 48-year-old woman with a history of immune thrombocytopenia and systemic lupus erythematosus on immunosuppressive therapy. She developed subsequent bacterial and fungal infections initially attributed to immunosuppressive drugs. Further evaluation revealed the diagnosis of chronic granulomatous disease. We review the diagnosis and treatment of chronic granulomatous disease in hopes to increase awareness of this disease in adulthood in order to initiate potential life-saving prophylactic antibiotics.