Severe disseminated mycobacterial infection in a boy with a novel mutation leading to IFN-[gamma]R2 deficiency

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...

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Bibliographic Details
Published in:The Journal of infection 2012-12, Vol.65 (6), p.568-572
Main Authors: Kilic, Sara Sebnem, van Wengen, Annelies, de Paus, Roelof A, Celebi, Solmaz, Meziane, Bouchra, Hafizoglu, Demet, van Dissel, Jaap T, van de Vosse, Esther
Format: Article
Language:English
Subjects:
Age
Coma
Genetic analysis
Liver
Liver diseases
Mutation
Mycobacterium
Recurrent infection
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Summary: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-[gamma], subsequent genetic analyses revealed a novel homozygous mutation, r.679GANB>ANBA in the IFNGR2 gene, resulting in a G227R substitution, that caused IFN-[gamma]R2 deficiency. This is only the 8th mutation in IFN-[gamma]R2 known so far. The boy eventually died of hepatic coma due to liver failure at the age of five.
ISSN:0163-4453
DOI:10.1016/j.jinf.2012.08.008