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Article

Severe disseminated mycobacterial infection in a boy with a novel mutation leading to IFN-γR2 deficiency.

The Journal of infection - 1 Dec 2012

Kilic Sara Sebnem, van Wengen Annelies, de Paus Roelof A, Celebi Solmaz, Meziane Bouchra, Hafizoglu Demet, van Dissel Jaap T, van de Vosse Esther

Abstract excerpt

Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare syndrome characterized by predisposition to severe, sometimes lethal, disease caused by otherwise poorly virulent mycobacteria. We report here a boy with a recurrent mycobacterial infection from the age of five months. Immunological analyses revealed an inability to respond to IFN-γ, subsequent genetic analyses revealed a novel homozygous...

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Source

Identifiers

PMID: 22902943
DOI: 10.1016/j.jinf.2012.08.008

Genes

IFNGR2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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