title: Disseminated Mycobacterium scrofulaceum infection in a child with interferon-gamma receptor 1 deficiency.
abstract: Disseminated disease caused by non-tuberculous, environmental mycobacteria (EM) reflects impaired host immunity. Disseminated disease caused by Mycobacterium scrofulaceum has primarily been reported in patients with AIDS. Moreover, observing M. scrofulaceum as the agent of localized disease in childhood has become increasingly rare. We report the first case of disseminated disease caused by M. scrofulaceum in a child with inherited interferon-gamma receptor 1 (IFN-gammaR1) complete deficiency. As in this case, mycobacterial bone infections in IFN-gammaR1 deficiency can sometimes mimic the clinical picture of chronic recurrent multifocal osteomyelitis.
authors.affiliation: Infectious Unit and University of Genoa, G. Gaslini Scientific Institute, Largo G. Gaslini 5, 16147 Genoa, Italy. mgmarazzi@ospedale-gaslini.ge.it
authors.forename: Maria Grazia
authors.initials: MG
authors.lastname: Marazzi
authors.forename: Ariane
authors.initials: A
authors.lastname: Chapgier
authors.forename: Anna-Carla
authors.initials: AC
authors.lastname: Defilippi
authors.forename: Vito
authors.initials: V
authors.lastname: Pistoia
authors.forename: Sara
authors.initials: S
authors.lastname: Mangini
authors.forename: Cesarina
authors.initials: C
authors.lastname: Savioli
authors.forename: Anna
authors.initials: A
authors.lastname: Dell'Acqua
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Feinberg
authors.forename: Enrico
authors.initials: E
authors.lastname: Tortoli
authors.forename: Jean-Laurent
authors.initials: JL
authors.lastname: Casanova
mesh_terms: D002675:Child, Preschool; D005528:Foot / Q000382:microbiology / Q000473:pathology; D006225:Hand / Q000382:microbiology / Q000473:pathology; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications*; D007866:Leg / Q000382:microbiology / Q000473:pathology; D008297:Male; D009165:Mycobacterium Infections, Nontuberculous / Q000382:microbiology / Q000473:pathology; D015359:Mycobacterium scrofulaceum / Q000302:isolation & purification*; D017471:Receptors, Interferon / Q000172:deficiency*; D014394:Tuberculosis, Osteoarticular / Q000382:microbiology / Q000473:pathology; D000096743:Interferon gamma Receptor
chemical_list: D017471:Receptors, Interferon; D000096743:Interferon gamma Receptor