1. Severe disseminated mycobacterial infection in a boy with a novel mutation leading to IFN-γR2 deficiency.
- Author
-
Kilic SS, van Wengen A, de Paus RA, Celebi S, Meziane B, Hafizoglu D, van Dissel JT, and van de Vosse E
- Subjects
- Amino Acid Substitution, Child, Preschool, Fatal Outcome, Genetic Predisposition to Disease, Humans, Immunologic Deficiency Syndromes genetics, Immunologic Deficiency Syndromes immunology, Immunologic Deficiency Syndromes metabolism, Infant, Male, Mutation, Mycobacterium Infections immunology, Mycobacterium Infections metabolism, Mycobacterium tuberculosis, Receptors, Interferon immunology, Interferon gamma Receptor, Mycobacterium Infections genetics, Receptors, Interferon deficiency, Receptors, Interferon genetics
- 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-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., (Copyright © 2012 The British Infection Association. Published by Elsevier Ltd. All rights reserved.)
- Published
- 2012
- Full Text
- View/download PDF