Chronic Granulomatous Disease; Three Different Clinical Presentation

Abstract

Chronic granulomatous disease is an inherited disorder of nicotinamide-adenine dinucleotide phosphate oxidase and results in a defect in intracellular killing of ingested microorganisms characterized by recurrent life threatening bacterial and fungal infections. The disease is classified by mutations in specific subunits of the NADPH oxidase enzyme. There are one X-linked and fourautosomal recessive forms of disease. The organisms cultured from lesion of patients with chronic granulomatous disease are generally catalase-producing including Staphylococci, Escherichia coli, Serratia; or fungi such as Aspergillus species. Recurrent or serious infections usually lead to diagnosis of disease in early childhood. We report three male patients who were diagnosed 5, 10, 13 years old, respectively and showed different clinical presentation.