[Multifocal infection due to Mycobacterium intracellulare: first case of interferon gamma receptor partial dominant deficiency in tropical French territory].
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.
Muszlak
M
M
Service de pédiatrie et néonatologie, centre hospitalier de Mayotte, Mamoudzou, Mayotte, France. m.muszlak@chmayotte.fr
Chapgier
A
A
Barry Harivelo
R
R
Castella
C
C
Crémades
F
F
Goulois
E
E
Laporte
R
R
Casanova
J-L
JL
Ranaivoarivony
V
V
Hebert
J-C
JC
Santiago
J
J
Picard
C
C
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
D017471:Receptors, Interferon; D000096743:Interferon gamma Receptor