Chronic granulomatous disease

Caused by genetic deficiency of components of nicotinamide adenine dinucleotide phosphate (NADPH) oxidase, which is necessary for effective phagocyte killing.

Results in recurrent serious bacterial and fungal infections, most commonly with Staphylococcus aureus, Aspergillus spp., Nocardia spp., Serratia marcescens, and Burkholderia cepacia.

Infections include pneumonia, superficial and deep abscesses, lymphadenitis, and osteomyelitis.

Antibiotic prophylaxis and early treatment of infections are imperative.

Hematopoietic stem cell transplantation should be undertaken early if human leukocyte antigen (HLA) genotypically matched donors are available.

Somatic gene therapy is effective at least transiently for restoration of NADPH oxidase activity.

Chronic granulomatous disease (CGD) is a rare primary immunodeficiency caused by genetic defects in components of the NADPH oxidase complex. NADPH oxidase is responsible for optimal phagocyte killing through production of superoxide and regulation of ionic content within the phagosome. As a result, affected patients suffer recurrent serious bacterial and fungal infections, most commonly with Staphylococcus aureus, Aspergillus spp., Nocardia spp., Serratia marcescens, and Burkholderia cepacia, as well as abnormal inflammatory responses that result in granuloma formation.[1]Rosenzweig SD, Uzel G, Holland SM. Phagocyte disorders. In: Stiehm ER, Ochs HD, Winkelstein JA, eds. Immunologic disorders in infants and children. Philadelphia, PA: Elsevier Saunders; 2004:618-51.[2]Segal BH, Leto TL, Gallin JI, et al. Genetic, biochemical, and clinical features of chronic granulomatous disease. Medicine (Baltimore). 2000 May;79(3):170-200. http://www.ncbi.nlm.nih.gov/pubmed/10844936?tool=bestpractice.com