Author/Editor		Markelj, G; Debeljak, M; Avčin, T
Title		Chronic granulomatous disease - clinical and molecular genetic aspects
Translated title		Kronična granulomatozna bolezen - klinični in molekularno-genetski vidik
Type		članek
Source		Slov Pediatr
Vol. and No.		Letnik 15, št. 1
Publication year		2008
Volume		str. 82-6
Language		eng
Abstract		Chronic Granulomatous Disease (CGD) is a rare primary immunodeficiency disorder of phagocytic cells. Patients are susceptible to recurrent life-threatening bacterial and fungal infections and develop granulomas due to the inability to kill phagocytosed organisms. CGD is caused by a defect in the phagocytic nicotinamide adenine dinucleotide phosphate (NADPH) oxidase enzyme complex, which is responsible for producing superoxide anions (O2-) in a process called respiratory burst. NADPH oxidase complex is composed of at least 5 different subunits that can be affected. The functional diagnosis of CGD is based on demonstration of a defective respiratory burst. The cornerstones of current therapy for CGD are antimicrobial prophylaxis, early and aggressive treatment of infections, and in some cases, IFN-gamma. The only curative therapeutic modality currently available for CGD is haemopoetic stem cell transplantation. In the future, stem cell gene therapy could become available.
Descriptors		GRANULOMATOUS DISEASE, CHRONIC