Severe disseminated mycobacterial infection in a boy with a novel Mutation LEADING to IFN-γR2 deficiency
Journal of Infection, 08/20/2012
Kilic SS et al. – 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.