What is Chronic Granulomatous Disease?

NADPH complex Chronic granulomatous disease is a rare genetic immunodeficiency associated with phagocyte function. It was first described in the 1950s. It is caused due to functional impairment in the NADPH oxidase complex and affects 1 in 200,000 live births in the USA. Usually diagnosed at an early age, CGD patients are susceptible to fatal bacterial and fungal infections. Patients are treated with antibiotics and antifungal prophylaxis to prevent infections.

Symptoms Clinically, CGD is highly variable, with symptoms ranging from infancy to late adulthood. The vast majority of people are diagnosed before the age of five. Children with CGD are typically short for their age. Mild diarrhea might progress to a serious condition of bloody diarrhea and malabsorption. Other types of persistent inflammation include non-infectious arthritis, gingivitis, and glomerulonephritis. Keratitis and uveitis are two ocular symptoms of CGD. Autoimmune diseases appear to be more common in X-linked female carriers. The most common skin signs are photosensitivity, discoid/malar rash, and the Raynaud phenomenon.

NADPH complex The active NADPH oxidase complex is a six-protein complex. It has two components in its basic state: a membrane-bound complex embedded in the walls of secondary granules and separate cytosolic components.

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