title: [Chronic granulomatous disease: pathogenesis and therapy of associated fungal infections].
abstract: Chronic granulomatous disease is a genetic disorder responsible for a defect in the NADPH oxidase of phagocytic cells. It impairs the oxidative burst necessary to the intracellular inactivation of microorganisms and predisposes to an increased risk of infections by various microorganisms, including fungi like Aspergillus spp. and other less frequently encountered or emerging fungal species. Here we review the genetic basis, pathogenesis and clinical presentation associated with fungal infections in chronic granulomatous disease as well as the current prophylaxis and newly available therapies.
authors.affiliation: Service de maladies infectieuses et tropicales, Hôpital Necker Enfants-malades, Paris, France.
authors.forename: Anne
authors.initials: A
authors.lastname: Desjardins
authors.forename: Hélène
authors.initials: H
authors.lastname: Coignard-Biehler
authors.forename: Nizar
authors.initials: N
authors.lastname: Mahlaoui
authors.forename: Pierre
authors.initials: P
authors.lastname: Frange
authors.forename: Marie-Elisabeth
authors.initials: ME
authors.lastname: Bougnoux
authors.forename: Stéphane
authors.initials: S
authors.lastname: Blanche
authors.forename: Alain
authors.initials: A
authors.lastname: Fischer
authors.forename: Sophie
authors.initials: S
authors.lastname: Blumental
authors.forename: Olivier
authors.initials: O
authors.lastname: Lortholary
mesh_terms: D000818:Animals; D000893:Anti-Inflammatory Agents / Q000627:therapeutic use*; D000935:Antifungal Agents / Q000627:therapeutic use*; D001228:Aspergillosis / Q000209:etiology / Q000276:immunology / Q000628:therapy; D004198:Disease Susceptibility; D015316:Genetic Therapy; D006105:Granulomatous Disease, Chronic / Q000150:complications* / Q000201:enzymology / Q000453:epidemiology / Q000276:immunology / Q000601:surgery; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D016867:Immunocompromised Host; D015994:Incidence; D050503:Indoleamine-Pyrrole 2,3,-Dioxygenase / Q000378:metabolism; D016131:Lymphocyte Subsets / Q000276:immunology; D051379:Mice; D009181:Mycoses / Q000453:epidemiology / Q000209:etiology* / Q000276:immunology / Q000517:prevention & control / Q000628:therapy; D019255:NADPH Oxidases / Q000172:deficiency / Q000235:genetics / Q000502:physiology; D009504:Neutrophils / Q000201:enzymology / Q000276:immunology; D021122:Protein Subunits; D016897:Respiratory Burst; D014364:Tryptophan / Q000378:metabolism
chemical_list: D000893:Anti-Inflammatory Agents; D000935:Antifungal Agents; D050503:Indoleamine-Pyrrole 2,3,-Dioxygenase; D021122:Protein Subunits; D014364:Tryptophan; D019255:NADPH Oxidases