Please use this identifier to cite or link to this item: http://hdl.handle.net/2445/180375
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dc.contributor.authorAsano, Takaki-
dc.contributor.authorBoisson, Bertrand-
dc.contributor.authorOnodi, Fanny-
dc.contributor.authorMatuozzo, Daniela-
dc.contributor.authorMoncada Velez, Marcela-
dc.contributor.authorMaglorius Renkilaraj, Majistor Raj Luxman-
dc.contributor.authorZhang, Peng-
dc.contributor.authorMeertens, Laurent-
dc.contributor.authorBolze, Alexandre-
dc.contributor.authorMaterna, Marie-
dc.contributor.authorKorniotis, Sarantis-
dc.contributor.authorLifton, Richard P.-
dc.contributor.authorBastard, Paul-
dc.contributor.authorAbel, Laurent-
dc.contributor.authorJouanguy, Emmanuelle-
dc.contributor.authorAmara, Ali-
dc.contributor.authorSoumelis, Vassili-
dc.contributor.authorCobat, Aurélie-
dc.contributor.authorZhang, Qian-
dc.contributor.authorCasanova, Jean-Laurent-
dc.contributor.authorCOVID Human Genetic Effort-
dc.contributor.authorFrench COVID Cohort Study Group-
dc.contributor.authorCOVID-STORM Clinicians-
dc.contributor.authorAmsterdam UMC Covid-19 Biobank-
dc.contributor.authorCOVID Clinicians-
dc.contributor.authorGervais, Adrian-
dc.contributor.authorImagine COVID Group-
dc.contributor.authorCoV-Contact Cohort-
dc.contributor.authorNIAID-USUHS COVID Study Group-
dc.contributor.authorTalouarn, Estelle-
dc.contributor.authorBigio, Benedetta-
dc.contributor.authorSeeleuthner, Yoann-
dc.contributor.authorBilguvar, Kaya-
dc.contributor.authorZhang, Yu-
dc.contributor.authorNeehus, Anna-Lena-
dc.contributor.authorOgishi, Masato-
dc.contributor.authorSoler Palacín, Pere-
dc.contributor.authorPelham, Simon J.-
dc.contributor.authorMartin Nalda, Andrea-
dc.contributor.authorLe Voyer, Tom-
dc.contributor.authorRosain, Jérémie-
dc.contributor.authorPhilippot, Quentin-
dc.contributor.authorColobran, Roger-
dc.contributor.authorRivière, Jacques G.-
dc.contributor.authorTandjaoui-Lambiotte, Yacine-
dc.contributor.authorChaïbi, Khalil-
dc.contributor.authorShahrooei, Mohammad-
dc.contributor.authorDarazam, Ilad Alavi-
dc.contributor.authorOlyaei, Nasrin Alipour-
dc.contributor.authorMansouri, Davood-
dc.contributor.authorHatipoğlu, Nevin-
dc.contributor.authorCasari, Giorgio-
dc.contributor.authorPalabiyik, Figen-
dc.contributor.authorCarrera, Paola-
dc.contributor.authorOzcelik, Tayfun-
dc.contributor.authorNovelli, Giuseppe-
dc.contributor.authorNovelli, Antonio-
dc.contributor.authorAiuti, Alessandro-
dc.contributor.authorBondesan, Simone-
dc.contributor.authorBarzaghi, Federica-
dc.contributor.authorRovere-Querini, Patrizia-
dc.contributor.authorTresoldi, Cristina-
dc.contributor.authorFranco, Jose Luis-
dc.contributor.authorRojas, Julian-
dc.contributor.authorReyes, Luis Felipe-
dc.contributor.authorBustos, Ingrid G.-
dc.contributor.authorPlanas Serra, Laura-
dc.contributor.authorArias, Andres Augusto-
dc.contributor.authorGut, Marta-
dc.contributor.authorMorelle, Guillaume-
dc.contributor.authorChristèle, Kyheng-
dc.contributor.authorTroya, Jesús-
dc.contributor.authorSchlüter, Agatha-
dc.contributor.authorPujol, Aurora-
dc.contributor.authorAllende, Luis M.-
dc.contributor.authorRodriguez Gallego, Carlos-
dc.contributor.authorFlores, Carlos-
dc.contributor.authorCabrera Marante, Oscar-
dc.contributor.authorPleguezuelo, Daniel E.-
dc.contributor.authorPérez de Diego, Rebeca-
dc.contributor.authorKeles, Sevgi-
dc.contributor.authorBrodin, Petter-
dc.contributor.authorAytekin, Gokhan-
dc.contributor.authorSmith, C.I. Edvard-
dc.contributor.authorAkcan, Ozge Metin-
dc.contributor.authorBryceson, Yenan T.-
dc.contributor.authorBergman, Peter-
dc.contributor.authorSmole, Daniel-
dc.contributor.authorNorlin, Anna-Carin-
dc.contributor.authorCampbell, Tessa M.-
dc.contributor.authorCovill, Laura E.-
dc.contributor.authorHammarström, Lennart-
dc.contributor.authorPan-Hammarström, Qiang-
dc.contributor.authorAbolhassani, Hassan-
dc.contributor.authorMane, Shrikant-
dc.contributor.authorMarr, Nico-
dc.contributor.authorDalgard, Clifton L.-
dc.contributor.authorAta, Manar-
dc.contributor.authorBiondi, Andrea-
dc.contributor.authorAl Ali, Fatima-
dc.contributor.authorKhan, Taushif-
dc.contributor.authorSpaan, András N.-
dc.contributor.authorBonfanti, Paolo-
dc.contributor.authorTubiana, Sarah-
dc.contributor.authorBurdet, Charles-
dc.contributor.authorNussbaum, Robert L.-
dc.contributor.authorKahn-Kirby, Amanda-
dc.contributor.authorSnow, Andrew L.-
dc.contributor.authorBustamante, Jacinta-
dc.contributor.authorPuel, Anne-
dc.contributor.authorBoisson-Dupuis, Stéphanie-
dc.contributor.authorNotarangelo, Luigi D.-
dc.contributor.authorZhang, Shen-Ying-
dc.contributor.authorSu, Helen C.-
dc.contributor.authorBéziat, Vivien-
dc.date.accessioned2021-10-04T09:39:36Z-
dc.date.available2021-10-04T09:39:36Z-
dc.date.issued2021-08-19-
dc.identifier.issn2470-9468-
dc.identifier.urihttp://hdl.handle.net/2445/180375-
dc.description.abstractAutosomal inborn errors of type I IFN immunity and autoantibodies against these cytokines underlie at least 10% of critical COVID-19 pneumonia cases. We report very rare, biochemically deleterious X-linked TLR7 variants in 16 unrelated male individuals aged 7 to 71 years (mean: 36.7 years) from a cohort of 1,202 male patients aged 0.5 to 99 years (mean: 52.9 years) with unexplained critical COVID-19 pneumonia. None of the 331 asymptomatically or mildly infected male individuals aged 1.3 to 102 years (mean: 38.7 years) tested carry such TLR7 variants (p = 3.5 × 10-5). The phenotypes of five hemizygous relatives of index cases infected with SARS-CoV-2 include asymptomatic or mild infection (n=2, 5 and 38 years), or moderate (n=1, 5 years), severe (n=1, 27 years), or critical (n=1, 29 years) pneumonia. Two boys (aged 7 and 12 years) from a cohort of 262 male patients with severe COVID-19 pneumonia (mean: 51.0 years) are hemizygous for a deleterious TLR7 variant. The cumulative allele frequency for deleterious TLR7 variants in the male general population is < 6.5x10-4 We also show that blood B cell lines and myeloid cell subsets from the patients do not respond to TLR7 stimulation, a phenotype rescued by wild-type TLR7 The patients' blood plasmacytoid dendritic cells (pDCs) produce low levels of type I IFNs in response to SARS-CoV-2. Overall, X-linked recessive TLR7 deficiency is a highly penetrant genetic etiology of critical COVID-19 pneumonia, in about 1.8% of male patients below the age of 60 years. Human TLR7 and pDCs are essential for protective type I IFN immunity against SARS-CoV-2 in the respiratory tract.-
dc.format.extent22 p.-
dc.format.mimetypeapplication/pdf-
dc.language.isoeng-
dc.publisherAmerican Association for the Advancement of Science (AAAS)-
dc.relation.isformatofReproducció del document publicat a: https://doi.org/10.1126/sciimmunol.abl4348-
dc.relation.ispartofScience Immunology, 2021, vol. 6, num. 62-
dc.relation.urihttps://doi.org/10.1126/sciimmunol.abl4348-
dc.rightscc by (c) Asano, Takaki et al, 2021-
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/es/*
dc.sourceArticles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))-
dc.subject.classificationCOVID-19-
dc.subject.classificationProteïnes-
dc.subject.classificationResposta immunitària-
dc.subject.otherCOVID-19-
dc.subject.otherProteins-
dc.subject.otherImmune response-
dc.titleX-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19-
dc.typeinfo:eu-repo/semantics/article-
dc.typeinfo:eu-repo/semantics/publishedVersion-
dc.date.updated2021-10-01T11:49:37Z-
dc.relation.projectIDinfo:eu-repo/grantAgreement/EC/H2020/824110/EU//EASI-Genomics-
dc.rights.accessRightsinfo:eu-repo/semantics/openAccess-
dc.identifier.pmid34413140-
Appears in Collections:Publicacions de projectes de recerca finançats per la UE
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

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