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Disseminated nontuberculous mycobacterial infection in a child with interferon-γ receptor 1 deficiency

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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-γ receptor 1 gene (IFNγR1) 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 IFNγR1 deficiency. The spectrum of IFNγR1 genotypes associated with this immunological disorder is expanding.

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Authors and Affiliations

  1. Second Department of Pediatrics, P. and A. Kyriakou Children’s Hospital, Athens University School of Medicine, 115 27, Athens, Greece

    Maria N. Tsolia, Polyxeni Taprantzi, Marina Servitzoglou, Ioannis Tassios, Nikolaos Spyridis, Fotini Papageorgiou & Panayotis Spyridis

  2. Laboratory of Human Genetics of Infectious Diseases, University of Paris, René Descartes-INSERM U550, Necker Medical School, Paris, France

    Ariane Chapgier, Orchidée Filipe Santos & Jean-Laurent Casanova

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  1. Maria N. Tsolia
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  2. Ariane Chapgier
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  3. Polyxeni Taprantzi
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  4. Marina Servitzoglou
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  5. Ioannis Tassios
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  7. Fotini Papageorgiou
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  8. Orchidée Filipe Santos
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  9. Jean-Laurent Casanova
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  10. Panayotis Spyridis
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Correspondence to Maria N. Tsolia.

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Tsolia, M.N., Chapgier, A., Taprantzi, P. et al. Disseminated nontuberculous mycobacterial infection in a child with interferon-γ receptor 1 deficiency. Eur J Pediatr 165, 458–461 (2006). https://doi.org/10.1007/s00431-006-0110-7

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  • DOI: https://doi.org/10.1007/s00431-006-0110-7

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