Severe disseminated mycobacterial infection in a boy with a novel mutation leading to IFN-gamma R2 deficiency
Date
2012-12
Authors
van Wengen, Annelies
de Paus, Roelof A.
Meziane, Bouchra
van Dissel, Jaap T.
van de Vosse, Esther
Journal Title
Journal ISSN
Volume Title
Publisher
W B Saunders
Abstract
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.679G > A 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.
Description
Keywords
Infectious diseases, Mendelian susceptibility to mycobacterial diseaseI, FN-gamma r2, Mycobacterial infection, Mutation, IFNGR2, Immunodeficiency, Primary immunodeficiency, Interferon-gamma receptor, Glycosylation, Patient, Complex, Chain
Citation
Kılıç, S. Ş. vd. (2012). "Severe disseminated mycobacterial infection in a boy with a novel mutation leading to IFN-gamma R2 deficiency". Journal of Infection, 65(6), 568-572.