Atypical x-linked chronic granulomatous disease
JKH Brunner, S Aliani, A Baan, P Habermehl, J Roesler, G Dockter · Aktuelle Rheumatologie · 2003 · Heft 11
Bibliografische Angaben
Zusammenfassung
Introduction: Chronic granulomatous disease (CGD) is an inherited phagocyte disorder caused by mutations in nicotinamide dinucleotide phosphate (NADPH) oxidase subunits. Phagocytic cells of CGD patients are unable to produce superoxide anions and their efficiency in bacterial killing is significantly impaired. It results in a susceptibility to infections of catalase-positive bacteria and fungi (especially Aspergillus species). Severe and recurrent skin infections and lymph node abscesses are the most common manifestations of CGD during early childhood. Intrahepatic abscesses occur later on. Case report: We repor…