CASE REPORT Severe disseminated mycobacterial infection in a boy with a novel mutation leading to IFN-gR2 deficiency Sara Sebnem Kilic a , Annelies van Wengen b , Roelof A. de Paus b , Solmaz Celebi c , Bouchra Meziane b , Demet Hafizoglu a , Jaap T. van Dissel b , Esther van de Vosse b, * a Pediatric Immunology Division, Department of Pediatrics, Uludag University Medical Faculty, Gorukle-Bursa 16059, Turkey b Department of Infectious Diseases, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands c Division of Pediatric Infectious Diseases, Department of Pediatrics, Uludag University Medical Faculty, Gorukle-Bursa 16059, Turkey Accepted 9 August 2012 Available online 15 August 2012 KEYWORDS Mendelian susceptibility to mycobacterial disease; IFN-gR2; Mycobacterial infection; Mutation; Immunodeficiency; IFNGR2; Primary immunodeficiency 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-g, subsequent genetic analyses revealed a novel homozygous mutation, r.679G > A in the IFNGR2 gene, resulting in a G227R substitution, that caused IFN-gR2 deficiency. This is only the 8th mu- tation in IFN-gR2 known so far. The boy eventually died of hepatic coma due to liver failure at the age of five. ª 2012 The British Infection Association. Published by Elsevier Ltd. All rights reserved. * Corresponding author. Department of Infectious Diseases, Leiden University Medical Center, C5 Room 42, Albinusdreef 2, 2333 ZA Leiden, The Netherlands. Tel.: þ31 71 526 1782; fax: þ31 71 526 6758. E-mail address: E.van_de_Vosse@lumc.nl (E. van de Vosse). 0163-4453/$36 ª 2012 The British Infection Association. Published by Elsevier Ltd. All rights reserved. http://dx.doi.org/10.1016/j.jinf.2012.08.008 www.elsevierhealth.com/journals/jinf Journal of Infection (2012) 65, 568e572