title: [Multifocal infection due to Mycobacterium intracellulare: first case of interferon gamma receptor partial dominant deficiency in tropical French territory].
abstract: Nontuberculous mycobacterial infections are rare in immunocompetent children, and usually present as adenitis. We report a case of a 6-year-old girl with a multifocal chronic osteomyelitis and pulmonary localisation due to Mycobacterium intracellulare associated with an autosomal dominant mutation of interferon gamma receptor 1 gene (INFGR1) leading to a syndrome of mendelian predisposition to mycobacteria infections by partial deficiency of intracellular signalisation of gamma interferon. This child has been cured with anti-mycobacteria drugs and gamma interferon. This report focus on the importance of looking for a susceptibility of the host to infectious diseases, which can lead to a specific treatment. As far as we know, this is the first case described in a tropical area.
authors.affiliation: Service de pédiatrie et néonatologie, centre hospitalier de Mayotte, Mamoudzou, Mayotte, France. m.muszlak@chmayotte.fr
authors.forename: M
authors.initials: M
authors.lastname: Muszlak
authors.forename: A
authors.initials: A
authors.lastname: Chapgier
authors.forename: R
authors.initials: R
authors.lastname: Barry Harivelo
authors.forename: C
authors.initials: C
authors.lastname: Castella
authors.forename: F
authors.initials: F
authors.lastname: Crémades
authors.forename: E
authors.initials: E
authors.lastname: Goulois
authors.forename: R
authors.initials: R
authors.lastname: Laporte
authors.forename: J-L
authors.initials: JL
authors.lastname: Casanova
authors.forename: V
authors.initials: V
authors.lastname: Ranaivoarivony
authors.forename: J-C
authors.initials: JC
authors.lastname: Hebert
authors.forename: J
authors.initials: J
authors.lastname: Santiago
authors.forename: C
authors.initials: C
authors.lastname: Picard
mesh_terms: D002648:Child; D005260:Female; D005602:France; D006801:Humans; D008171:Lung Diseases / Q000382:microbiology; D009154:Mutation; D015270:Mycobacterium avium-intracellulare Infection / Q000175:diagnosis* / Q000209:etiology; D010019:Osteomyelitis / Q000150:complications / Q000382:microbiology; D017471:Receptors, Interferon / Q000172:deficiency* / Q000235:genetics; D012141:Respiratory Tract Infections / Q000150:complications; D014330:Tropical Medicine; D000096743:Interferon gamma Receptor
chemical_list: D017471:Receptors, Interferon; D000096743:Interferon gamma Receptor