Severe disseminated mycobacterial infection in a boy with a novel mutation leading to IFN-gamma R2 deficiency

van Wengen, Anneliesde Paus, Roelof A.Meziane, Bouchravan Dissel, Jaap T.van de Vosse, Esther2022-04-152022-04-152012-12Kılıç, S. Ş. vd. (2012). "Severe disseminated mycobacterial infection in a boy with a novel mutation leading to IFN-gamma R2 deficiency". Journal of Infection, 65(6), 568-572.0163-44531532-2742https://doi.org/10.1016/j.jinf.2012.08.008https://www.sciencedirect.com/science/article/pii/S0163445312002253http://hdl.handle.net/11452/25797Mendelian 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.eninfo:eu-repo/semantics/closedAccessInfectious diseasesMendelian susceptibility to mycobacterial diseaseIFN-gamma r2Mycobacterial infectionMutationIFNGR2ImmunodeficiencyPrimary immunodeficiencyInterferon-gamma receptorGlycosylationPatientComplexChainAmino acid substitutionChild, preschoolFatal outcomeGenetic predisposition to diseaseHumansImmunologic deficiency syndromesInfantMaleMutationMycobacterium infectionsMycobacterium tuberculosisReceptors, interferonSevere disseminated mycobacterial infection in a boy with a novel mutation leading to IFN-gamma R2 deficiencyArticle0003110873000112-s2.0-8486900520956857265622902943Infectious diseasesMycobacteriosis; Lymphadenitis; BCG VaccineAmikacinCefotaximeCefuroximeClarithromycinClindamycinCorticosteroidErythromycinGamma interferon receptorGamma interferon receptor 2HemoglobinIsoniazidPhenytoinPyrazinamideRifampicinStreptomycinSultamicillinUnclassified drugAcid fast bacteriumAntibiotic resistanceArticleBacterial geneCase reportCerebrospinal fluid cultureChildDisease severityErythrocyte sedimentation rateFatigueFeverFollow upGene identificationGranulomatosisHeadacheHepatic comaHistopathologyHomozygosityHumanHuman tissueHydrocephalusIfn gamma r2 geneIntracranial pressureIntracutaneous testLiver failureLiver toxicityLymphadenopathyLymphocyte countMaleMeningitisMonocyteMutational analysisMycobacterium tuberculosisNeutrophil countPhysical examinationPreschool childProtein deficiencyRecurrent infectionRespiratory distressStomach lavageSubstitution reactionThrombocyte countTonic seizureTreatment durationTuberculosisTuberculous lymphadenitisVomiting