Multifocal infection due to Mycobacterium intracellulare: first case of interferon gamma receptor partial dominant deficiency in tropical French territory

• Published in: Archives de pédiatrie : organe officiel de la Société française de pédiatrie 2007-03, Vol.14 (3), p.270-272
• Main Authors: Muszlak, M, Chapgier, A, Barry Harivelo, R, Castella, C, Crémades, F, Goulois, E, Laporte, R, Casanova, J-L, Ranaivoarivony, V, Hebert, J-C, Santiago, J, Picard, C
• Format: Article
• Language: fre
• Subjects: Child; Female; France; Humans; Interferon gamma Receptor; Lung Diseases - microbiology; Mutation; Mycobacterium avium-intracellulare Infection - diagnosis; Mycobacterium avium-intracellulare Infection - etiology; Osteomyelitis - complications; Osteomyelitis - microbiology; Receptors, Interferon - deficiency; Receptors, Interferon - genetics; Respiratory Tract Infections - complications; Tropical Medicine
• ISSN: 0929-693X
• DOI: 10.1016/j.arcped.2006.11.023

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.