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

Kilic S. Ş., van Wengen A., de Paus R. A., ÇELEBİ S., Meziane B., Hafizoglu D., ...More

The Journal of infection, vol.65, no.6, pp.568-72, 2012 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 65 Issue: 6
  • Publication Date: 2012
  • Doi Number: 10.1016/j.jinf.2012.08.008
  • Journal Name: The Journal of infection
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.568-72
  • Keywords: Mendelian susceptibility to mycobacterial disease, IFN-gamma R2, Mycobacterial infection, Mutation, Immunodeficiency, IFNGR2, Primary immunodeficiency, INTERFERON-GAMMA RECEPTOR, GLYCOSYLATION, PATIENT, COMPLEX, CHAIN
  • Bursa Uludag University Affiliated: Yes


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. (C) 2012 The British Infection Association. Published by Elsevier Ltd. All rights reserved.