title: Disseminated nontuberculous mycobacterial infection in a child with interferon-gamma receptor 1 deficiency.
abstract: We describe the case of a 2-year-old boy with disseminated infection by a rapidly growing, poorly pathogenic mycobacterial species that belonged to the Mycobacterium fortuitum-Mycobacterium peregrinum complex. He had a severe course characterized by a poor response to treatment and recurrent lymph node abscess formation. Sequencing of the interferon-gamma receptor 1 gene (IFNgammaR1) revealed that he was homozygous for a novel null mutation, 453delT. Patients presenting with disseminated infections by rapidly growing environmental mycobacteria must be investigated for complete IFNgammaR1 deficiency. The spectrum of IFNgammaR1 genotypes associated with this immunological disorder is expanding.
authors.affiliation: Second Department of Pediatrics, P. and A. Kyriakou Children's Hospital, Athens University School of Medicine, 115 27 Athens, Greece. matsolia@ath.forthnet.gr
authors.forename: Maria N
authors.initials: MN
authors.lastname: Tsolia
authors.forename: Ariane
authors.initials: A
authors.lastname: Chapgier
authors.forename: Polyxeni
authors.initials: P
authors.lastname: Taprantzi
authors.forename: Marina
authors.initials: M
authors.lastname: Servitzoglou
authors.forename: Ioannis
authors.initials: I
authors.lastname: Tassios
authors.forename: Nikolaos
authors.initials: N
authors.lastname: Spyridis
authors.forename: Fotini
authors.initials: F
authors.lastname: Papageorgiou
authors.forename: Orchidée Filipe
authors.initials: OF
authors.lastname: Santos
authors.forename: Jean-Laurent
authors.initials: JL
authors.lastname: Casanova
authors.forename: Panayotis
authors.initials: P
authors.lastname: Spyridis
mesh_terms: D006801:Humans; D007223:Infant; D008297:Male; D009165:Mycobacterium Infections, Nontuberculous / Q000235:genetics / Q000276:immunology* / Q000382:microbiology; D017471:Receptors, Interferon / Q000172:deficiency* / Q000235:genetics*; D000096743:Interferon gamma Receptor
chemical_list: D017471:Receptors, Interferon; D000096743:Interferon gamma Receptor