IL-12R beta 1 Deficiency in Two of Fifty Children with Severe Tuberculosis from Iran, Morocco, and Turkey

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dc.contributor.authorBoisson-Dupuis, Stephanie
dc.contributor.authorEl Baghdadi, Jamila
dc.contributor.authorParvaneh, Nima
dc.contributor.authorBousfiha, Aziz
dc.contributor.authorBustamante, Jacinta
dc.contributor.authorFeinberg, Jacqueline
dc.contributor.authorSamarina, Arina
dc.contributor.authorGrant, Audrey V.
dc.contributor.authorJanniere, Lucile
dc.contributor.authorEl Hafidi, Naima
dc.contributor.authorHassani, Amal
dc.contributor.authorNolan, Daniel
dc.contributor.authorNajib, Jilali
dc.contributor.authorCamcioglu, Yildiz
dc.contributor.authorHatipoglu, Nevin
dc.contributor.authorAydogmus, Cigdem
dc.contributor.authorTanir, Gonul
dc.contributor.authorAytekin, Caner
dc.contributor.authorKeser, Melike
dc.contributor.authorSomer, Ayper
dc.contributor.authorAksu, Guside
dc.contributor.authorKutukculer, Necil
dc.contributor.authorMansouri, Davood
dc.contributor.authorMahdaviani, Alireza
dc.contributor.authorMamishi, Setareh
dc.contributor.authorAlcais, Alexandre
dc.contributor.authorAbel, Laurent
dc.contributor.authorCasanova, Jean-Laurent
dc.date.accessioned2019-10-27T21:24:26Z
dc.date.available2019-10-27T21:24:26Z
dc.date.issued2011
dc.departmentEge Üniversitesien_US
dc.description.abstractBackground and Objectives: In the last decade, autosomal recessive IL-12R beta 11 deficiency has been diagnosed in four children with severe tuberculosis from three unrelated families from Morocco, Spain, and Turkey, providing proof-of-principle that tuberculosis in otherwise healthy children may result from single-gene inborn errors of immunity. We aimed to estimate the fraction of children developing severe tuberculosis due to IL-12R beta 1 deficiency in areas endemic for tuberculosis and where parental consanguinity is common. Methods and Principal Findings: We searched for IL12RB1 mutations in a series of 50 children from Iran, Morocco, and Turkey. All children had established severe pulmonary and/or disseminated tuberculosis requiring hospitalization and were otherwise normally resistant to weakly virulent BCG vaccines and environmental mycobacteria. In one child from Iran and another from Morocco, homozygosity for loss-of-function IL12RB1 alleles was documented, resulting in complete IL-12R beta 1 deficiency. Despite the small sample studied, our findings suggest that IL-12R beta 1 deficiency is not a very rare cause of pediatric tuberculosis in these countries, where it should be considered in selected children with severe disease. Significance: This finding may have important medical implications, as recombinant IFN-gamma is an effective treatment for mycobacterial infections in IL-12R beta 1-deficient patients. It also provides additional support for the view that severe tuberculosis in childhood may result from a collection of single-gene inborn errors of immunity.en_US
dc.description.sponsorshipSchlumberger Foundation; BNP-Paribas Foundation; Foundation for Medical Research (FRM)Fondation pour la Recherche Medicale; Institut Universitaire de France; French National Agency for Research (ANR)French National Research Agency (ANR); EUEuropean Union (EU) [HEALTH-F3-2008-200732]; Bill and Melinda Gates FoundationGates Foundation; St. Giles Foundation; Jeffrey Modell Foundation; Talecris Biotherapeutics; Rockefeller University Center for Clinical and Translational Science [5UL1RR024143]; Rockefeller University; National Institute of Allergy and Infectious DiseasesUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Institute of Allergy & Infectious Diseases (NIAID) [1U01AI088685]en_US
dc.description.sponsorshipThe Laboratory of Human Genetics of Infectious Diseases is supported in part by grants from the Schlumberger Foundation, the BNP-Paribas Foundation, The Foundation for Medical Research (FRM), the "Institut Universitaire de France," the French National Agency for Research (ANR), the EU-grant HOMITB (HEALTH-F3-2008-200732), the Bill and Melinda Gates Foundation, the St. Giles Foundation, the Jeffrey Modell Foundation and Talecris Biotherapeutics, the Rockefeller University Center for Clinical and Translational Science grant number 5UL1RR024143, the Rockefeller University, and the National Institute of Allergy and Infectious Diseases grant number 1U01AI088685. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. No additional external funding received for this study.en_US
dc.identifier.doi10.1371/journal.pone.0018524en_US
dc.identifier.issn1932-6203
dc.identifier.issue4en_US
dc.identifier.pmid21533230en_US
dc.identifier.urihttps://doi.org/10.1371/journal.pone.0018524
dc.identifier.urihttps://hdl.handle.net/11454/44537
dc.identifier.volume6en_US
dc.identifier.wosWOS:000289458800016en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherPublic Library Scienceen_US
dc.relation.ispartofPlos Oneen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.titleIL-12R beta 1 Deficiency in Two of Fifty Children with Severe Tuberculosis from Iran, Morocco, and Turkeyen_US
dc.typeArticleen_US

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