Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3374793 | Journal of Infection | 2012 | 5 Pages |
Abstract
SummaryMendelian 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 mutation, r.679G > A in the IFNGR2 gene, resulting in a G227R substitution, that caused IFN-γR2 deficiency. This is only the 8th mutation in IFN-γR2 known so far. The boy eventually died of hepatic coma due to liver failure at the age of five.
Keywords
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Authors
Sara Sebnem Kilic, Annelies van Wengen, Roelof A. de Paus, Solmaz Celebi, Bouchra Meziane, Demet Hafizoglu, Jaap T. van Dissel, Esther van de Vosse,