Chronic granulamatous disease is caused by mutations in any of the four structural genes of the NADPH oxidase (gp91^phox, p22^phox, p47^phox, and p67^phox). Most cases (65%) involve mutations in gp91^phox and are inherited in an X-linked recessive manner. The remainder are autosomal recessive. Although CGD can be diagnosed at any age from early childhood to adulthood, the majority of the cases are diagnosed as toddlers or young children below five years old due to recurrent infections or granuloma formation. The frequent sites of infection are lung, skin, lymph nodes, and liver. The diagnosis is based on medical history, clinical signs and the neutrophil function test results indicating the absence of respiratory burst and is confirmed by genotyping. Currently, the main treatment modalities are antibiotic and antifungal prophylaxis, interferon-gamma prophylaxis, management of acute infections and inflammatory complications, hemopoietic stem cell transplantation and gene therapy. In this review, the pathogenesis, clinical manifestations, diagnosis and treatment of CGD were discussed.

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