Awais Tahir, Faisal Raza Malik, Tahir Aziz Ahmed.
Chronic granulomatous disease with recurrent pneumonia and skin abscesses.
J Rawal Med Coll Jan ;17(2):304-5.

Chronic granulomatous disease (CGD), previously known as fatal granulomatosis of childhood, is a primary immunodeficiency disorder resulting from the absence or malfunction of nicotinamide adenine dinucleotide phosphate (NADPH) oxidase subunits in phagocytic cells.1-4 A defect in any one of 4 components of the NADPH oxidase complex (gp91- phox, p22-phox, p47-phox, p67-phox) encoded by the X-linked CYBB gene and the autosomal NCF1, NCF2, CYBA, and Rac2 genes abolishes the activity of the oxidase and leads to CGD. 4-7 The major clinical manifestations of CGD are pneumonia, lymphadenitis, liver abscess, pyoderma, inflammation of the gastrointestinal tract, and osteomyelitis.3 Severe recurrent life-threatening infections develop due to bacteria and fungi that produce catalase, such as Staphylococci species, Burkholderia cepacia, Serratia marcescens, Nocardia species, and Aspergillus species. Salmonella species, Bacille Calmette-Guérin (BCG), Mycobacterium and Candida species are also important infectious agents. 2-5 Another important manifestation of CGD is an enhanced and persistent inflammatory response, which presents as hypergammaglobulinemia and anaemia. 5 We report a patient diagnosed with CGD associated with recurrent skin abscesses

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