Lecturer in Paediatrics, Ain Shams University, Egypt.
Background: CGD is an immunodeficiency disease caused by mutations in genes encoding subunits of the leukocyte NADPH oxidase complex causing defective “respiratory burst”, and thus failure of clearance of micro-organisms. Its prevalence is 1∶250,000. The majority of CGD patients suffer from severe recurrent bacterial and fungal infections, dysregulated Th-17-lymphocyte-controlled inflammation causing granuloma formationand autoimmune phenomena. The most common offending organisms are Staphylococcus aureus, and Aspergillus. The leukocyte NADPH oxidase, consists of subunits, four of which are important for CGD; gp91phox ,p22phox (located in membranes) and p47phox, p67phox ( located in the cytosol). gp91phox gene mutations are responsible for 70% of CGD cases which are inherited as X-linked recessive. Mutations in the other subunits are autosomal recessive in inheritance (figure 1)1. Treatment includes long-term prophylactic antibiotics and antifungals and curative stem-cell transplantation.