title: Disseminated histoplasmosis in persons with interferon-gamma receptor 1 deficiency.
abstract: Mutations in the interferon (IFN)-gamma receptor predispose to infection with bacille Calmette-Guérin, nontuberculous mycobacteria, and Salmonella organisms. We identified a patient with recurrent disseminated Histoplasma capsulatum osteomyelitis who had an autosomal dominant form of IFN-gamma receptor 1 deficiency (i.e., a 4-bp deletion at or near base 818). IFN-gamma-mediated immunity is important in the control of histoplasmosis.
authors: University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
authors: Christa S
authors: CS
authors: Zerbe
authors: Steven M
authors: SM
authors: Holland
mesh_terms: D002675:Child, Preschool; D006658:Histoplasma; D006660:Histoplasmosis / Q000276:immunology*; D006801:Humans; D016867:Immunocompromised Host / Q000235:genetics*; D008297:Male; D009154:Mutation; D010019:Osteomyelitis / Q000382:microbiology*; D017471:Receptors, Interferon / Q000172:deficiency* / Q000235:genetics; D018123:Receptors, Interleukin / Q000172:deficiency / Q000235:genetics; D053707:Receptors, Interleukin-12; D012008:Recurrence; D000096743:Interferon gamma Receptor
chemical_list: D017471:Receptors, Interferon; D018123:Receptors, Interleukin; D053707:Receptors, Interleukin-12; D000096743:Interferon gamma Receptor