VSE knjižnice (vzajemna bibliografsko-kataložna baza podatkov COBIB.SI)
  • Chronic granulomatous disease - clinical and molecular genetic aspects = Kronična granulomatozna bolezen - klinični in molekularno-genetski vidik
    Markelj, Gašper, 1978- ; Debeljak, Maruša ; Avčin, Tadej
    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 tothe 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 onlycurative therapeutic modality currently available for CGD is haemopoetic stem cell transplantation. In the future, stem cell gene therapy could become available.
    Vir: Slovenska pediatrija : revija Združenja pediatrov Slovenije in Združenja specialistov šolske in visokošolske medicine Slovenije. - ISSN 1318-4423 (Letn. 15, št. 1, 2008, str. 82-86)
    Vrsta gradiva - članek, sestavni del
    Leto - 2008
    Jezik - angleški
    COBISS.SI-ID - 24523993

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