title: [Chronic granulomatous disease--not only the lack of oxygen radicals].
abstract: Chronic granulomatous disease (CGD) is caused by mutations in the phox-family of superoxide ion generating enzymes. The clinical manifestations of CGD include increased infection susceptibility, a lupus like dermatitis and inflammatory bowel disease. The severe consequences of this rare disorder need to be handled by specialists, experienced in the care of CGD patients. Many CGD manifestations are due to the lack of superoxide ions, but some also to deficient pumping of protons to the extracellular space. An excessive inflammatory component, e.g. the granuloma formation in various organs, might be secondary to impaired superoxide ion dependent inactivation of inflammatory mediators. CGD can be successfully treated by hematopoietic stem cell transplantation, and gene therapy might become an alternative in the future.
authors.affiliation: Karolinska Universitetssjukhuset Huddinge, Stockholm. jan.palmblad@medhs.ki.se
authors.forename: Jan
authors.initials: J
authors.lastname: Palmblad
authors.forename: Hans
authors.initials: H
authors.lastname: Gyllenhammar
authors.forename: Johan
authors.initials: J
authors.lastname: Bratt
authors.forename: Anders
authors.initials: A
authors.lastname: Ahlin
mesh_terms: D000818:Animals; D001424:Bacterial Infections / Q000209:etiology / Q000378:metabolism; D003937:Diagnosis, Differential; D004198:Disease Susceptibility; D005609:Free Radicals / Q000378:metabolism; D006098:Granulocytes / Q000378:metabolism; D006105:Granulomatous Disease, Chronic / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D006801:Humans; D018836:Inflammation Mediators / Q000378:metabolism; D009154:Mutation; D019255:NADPH Oxidases / Q000235:genetics; D010545:Peroxides / Q000378:metabolism; D010586:Phagocytes / Q000201:enzymology; D013481:Superoxides / Q000378:metabolism
chemical_list: D005609:Free Radicals; D018836:Inflammation Mediators; D010545:Peroxides; D013481:Superoxides; D019255:NADPH Oxidases