Severe disseminated mycobacterial infection in a boy with a novel mutation leading to IFN-γR2 deficiency - 11/11/12
Corresponding author. Department of Infectious Diseases, Leiden University Medical Center, C5 Room 42, Albinusdreef 2, 2333 ZA Leiden, The Netherlands. Tel.: +31 71 526 1782; fax: +31 71 526 6758.Summary |
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.
Le texte complet de cet article est disponible en PDF.Keywords : Mendelian susceptibility to mycobacterial disease, IFN-γR2, Mycobacterial infection, Mutation, Immunodeficiency, IFNGR2, Primary immunodeficiency
Plan
Vol 65 - N° 6
P. 568-572 - décembre 2012 Retour au numéro
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