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Title of Journal: Eur J Pediatr

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Abbravation: European Journal of Pediatrics

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Springer-Verlag

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1432-1076

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Disseminated nontuberculous mycobacterial infectio

Authors: Maria N Tsolia Ariane Chapgier Polyxeni Taprantzi Marina Servitzoglou Ioannis Tassios Nikolaos Spyridis Fotini Papageorgiou Orchidée Filipe Santos JeanLaurent Casanova Panayotis Spyridis
Publish Date: 2006/04/07
Volume: 165, Issue: 7, Pages: 458-461
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Abstract

We describe the case of a 2yearold 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 interferonγ 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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