Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines

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dc.contributor.authorHernandez, Nicholas
dc.contributor.authorBucciol, Giorgia
dc.contributor.authorMoens, Leen
dc.contributor.authorLe Pen, Jeremie
dc.contributor.authorShahrooei, Mohammad
dc.contributor.authorGoudouris, Ekaterini
dc.contributor.authorShirkani, Afshin
dc.date.accessioned2024-02-23T14:20:45Z
dc.date.available2024-02-23T14:20:45Z
dc.date.issued2019
dc.departmentNEÜen_US
dc.description.abstractVaccination against measles, mumps, and rubella (MMR) and yellow fever (YF) with live attenuated viruses can rarely cause life-threatening disease. Severe illness by MMR vaccines can be caused by inborn errors of type I and/or III interferon (IFN) immunity (mutations in IFNAR2, STAT1, or STAT2). Adverse reactions to the YF vaccine have remained unexplained. We report two otherwise healthy patients, a 9-yr-old boy in Iran with severe measles vaccine disease at 1 yr and a 14-yr-old girl in Brazil with viscerotropic disease caused by the YF vaccine at 12 yr. The Iranian patient is homozygous and the Brazilian patient compound heterozygous for loss-of-function IFNAR1 variations. Patient-derived fibroblasts are susceptible to viruses, including the YF and measles virus vaccine strains, in the absence or presence of exogenous type I IFN. The patients' fibroblast phenotypes are rescued with WT IFNAR1. Autosomal recessive, complete IFNAR1 deficiency can result in life-threatening complications of vaccination with live attenuated measles and YF viruses in previously healthy individuals.en_US
dc.description.sponsorshipNational Center for Research Resources [UL1TR001866]; National Center for Advancing Translational Sciences [UL1TR001866]; National Institute of Allergy and Infectious Diseases (NIAID) [U19AI111825, U19AI057229]; National Vaccine Program Office of the US Department of Health and Human Services [VSRNV000006]; St. Giles Foundation; Agence Nationale de la Recherche under the Investments for the Future program [ANR-10-IAHU-01]; Institut National de la Sante et de la Recherche Medicale; National Institute of Allergy and Infectious Diseases [R21AI137371, R01AI124690]; Agence Nationale de la Recherche under Laboratoire d'Excellence Integrative Biology of Emerging Infectious Diseases [ANR-10-LABX-62-IBEID]; National Immunization Program; Institute of Technology in Immunobiology (Bio-Manguinhos), Ministry of Health, Brazil; KU Leuven [GOA/13/013]; Hercules Foundation [ZW13-02]; Rega Foundation, KU Leuven [ZW13-02]; Fonds Wetenschappelijk Onderzoek Vlaanderen grant [G0C8517N]; Universite Paris Descartes; Medical Scientist Training Program grant from the National Institute of General Medical Sciences of the National Institutes of Health [T32GM007739]; Francois Wallace Monahan Postdoctoral Fellowship at the Rockefeller University; European Molecular Biology Organization Long-Term Fellowship [ALTF 380-2018]en_US
dc.description.sponsorshipThis work was supported by National Center for Research Resources and National Center for Advancing Translational Sciences grant UL1TR001866; the National Institute of Allergy and Infectious Diseases (NIAID) for Cooperative Center on Human Immunology grants U19AI111825 and U19AI057229; National Institute of Allergy and Infectious Diseases grants R21AI137371 and R01AI124690; National Vaccine Program Office of the US Department of Health and Human Services grant VSRNV000006; the St. Giles Foundation; the Agence Nationale de la Recherche under the Investments for the Future program grant ANR-10-IAHU-01 and the Laboratoire d'Excellence Integrative Biology of Emerging Infectious Diseases (ANR-10-LABX-62-IBEID); Institut National de la Sante et de la Recherche Medicale; National Immunization Program; Institute of Technology in Immunobiology (Bio-Manguinhos), Ministry of Health, Brazil; KU Leuven research grant (GOA/13/013); Caps-It research infrastructure (project ZW13-02) financially supported by the Hercules Foundation and Rega Foundation, KU Leuven; Fonds Wetenschappelijk Onderzoek Vlaanderen grant G0C8517N; and Universite Paris Descartes. N. Hernandez was supported by the Medical Scientist Training Program grant from the National Institute of General Medical Sciences of the National Institutes of Health under award number T32GM007739 to the Weill Cornell/Rockefeller/Sloan-Kettering Tri-Institutional MD-PhD Program. J. Le Pen was supported in part by funds from a Francois Wallace Monahan Postdoctoral Fellowship at the Rockefeller University and by a European Molecular Biology Organization Long-Term Fellowship (ALTF 380-2018).en_US
dc.identifier.doi10.1084/jem.20182295
dc.identifier.endpage2070en_US
dc.identifier.issn0022-1007
dc.identifier.issn1540-9538
dc.identifier.issue9en_US
dc.identifier.pmid31270247en_US
dc.identifier.scopus2-s2.0-85071786268en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage2057en_US
dc.identifier.urihttps://doi.org/10.1084/jem.20182295
dc.identifier.urihttps://hdl.handle.net/20.500.12452/13298
dc.identifier.volume216en_US
dc.identifier.wosWOS:000484027100010en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherRockefeller Univ Pressen_US
dc.relation.ispartofJournal Of Experimental Medicineen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subject[Keyword Not Available]en_US
dc.titleInherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccinesen_US
dc.typeArticleen_US

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