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DC Field | Value | Language |
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dc.contributor.author | Asano, Takaki | - |
dc.contributor.author | Boisson, Bertrand | - |
dc.contributor.author | Onodi, Fanny | - |
dc.contributor.author | Matuozzo, Daniela | - |
dc.contributor.author | Moncada Velez, Marcela | - |
dc.contributor.author | Maglorius Renkilaraj, Majistor Raj Luxman | - |
dc.contributor.author | Zhang, Peng | - |
dc.contributor.author | Meertens, Laurent | - |
dc.contributor.author | Bolze, Alexandre | - |
dc.contributor.author | Materna, Marie | - |
dc.contributor.author | Korniotis, Sarantis | - |
dc.contributor.author | Lifton, Richard P. | - |
dc.contributor.author | Bastard, Paul | - |
dc.contributor.author | Abel, Laurent | - |
dc.contributor.author | Jouanguy, Emmanuelle | - |
dc.contributor.author | Amara, Ali | - |
dc.contributor.author | Soumelis, Vassili | - |
dc.contributor.author | Cobat, Aurélie | - |
dc.contributor.author | Zhang, Qian | - |
dc.contributor.author | Casanova, Jean-Laurent | - |
dc.contributor.author | COVID Human Genetic Effort | - |
dc.contributor.author | French COVID Cohort Study Group | - |
dc.contributor.author | COVID-STORM Clinicians | - |
dc.contributor.author | Amsterdam UMC Covid-19 Biobank | - |
dc.contributor.author | COVID Clinicians | - |
dc.contributor.author | Gervais, Adrian | - |
dc.contributor.author | Imagine COVID Group | - |
dc.contributor.author | CoV-Contact Cohort | - |
dc.contributor.author | NIAID-USUHS COVID Study Group | - |
dc.contributor.author | Talouarn, Estelle | - |
dc.contributor.author | Bigio, Benedetta | - |
dc.contributor.author | Seeleuthner, Yoann | - |
dc.contributor.author | Bilguvar, Kaya | - |
dc.contributor.author | Zhang, Yu | - |
dc.contributor.author | Neehus, Anna-Lena | - |
dc.contributor.author | Ogishi, Masato | - |
dc.contributor.author | Soler Palacín, Pere | - |
dc.contributor.author | Pelham, Simon J. | - |
dc.contributor.author | Martin Nalda, Andrea | - |
dc.contributor.author | Le Voyer, Tom | - |
dc.contributor.author | Rosain, Jérémie | - |
dc.contributor.author | Philippot, Quentin | - |
dc.contributor.author | Colobran, Roger | - |
dc.contributor.author | Rivière, Jacques G. | - |
dc.contributor.author | Tandjaoui-Lambiotte, Yacine | - |
dc.contributor.author | Chaïbi, Khalil | - |
dc.contributor.author | Shahrooei, Mohammad | - |
dc.contributor.author | Darazam, Ilad Alavi | - |
dc.contributor.author | Olyaei, Nasrin Alipour | - |
dc.contributor.author | Mansouri, Davood | - |
dc.contributor.author | Hatipoğlu, Nevin | - |
dc.contributor.author | Casari, Giorgio | - |
dc.contributor.author | Palabiyik, Figen | - |
dc.contributor.author | Carrera, Paola | - |
dc.contributor.author | Ozcelik, Tayfun | - |
dc.contributor.author | Novelli, Giuseppe | - |
dc.contributor.author | Novelli, Antonio | - |
dc.contributor.author | Aiuti, Alessandro | - |
dc.contributor.author | Bondesan, Simone | - |
dc.contributor.author | Barzaghi, Federica | - |
dc.contributor.author | Rovere-Querini, Patrizia | - |
dc.contributor.author | Tresoldi, Cristina | - |
dc.contributor.author | Franco, Jose Luis | - |
dc.contributor.author | Rojas, Julian | - |
dc.contributor.author | Reyes, Luis Felipe | - |
dc.contributor.author | Bustos, Ingrid G. | - |
dc.contributor.author | Planas Serra, Laura | - |
dc.contributor.author | Arias, Andres Augusto | - |
dc.contributor.author | Gut, Marta | - |
dc.contributor.author | Morelle, Guillaume | - |
dc.contributor.author | Christèle, Kyheng | - |
dc.contributor.author | Troya, Jesús | - |
dc.contributor.author | Schlüter, Agatha | - |
dc.contributor.author | Pujol, Aurora | - |
dc.contributor.author | Allende, Luis M. | - |
dc.contributor.author | Rodriguez Gallego, Carlos | - |
dc.contributor.author | Flores, Carlos | - |
dc.contributor.author | Cabrera Marante, Oscar | - |
dc.contributor.author | Pleguezuelo, Daniel E. | - |
dc.contributor.author | Pérez de Diego, Rebeca | - |
dc.contributor.author | Keles, Sevgi | - |
dc.contributor.author | Brodin, Petter | - |
dc.contributor.author | Aytekin, Gokhan | - |
dc.contributor.author | Smith, C.I. Edvard | - |
dc.contributor.author | Akcan, Ozge Metin | - |
dc.contributor.author | Bryceson, Yenan T. | - |
dc.contributor.author | Bergman, Peter | - |
dc.contributor.author | Smole, Daniel | - |
dc.contributor.author | Norlin, Anna-Carin | - |
dc.contributor.author | Campbell, Tessa M. | - |
dc.contributor.author | Covill, Laura E. | - |
dc.contributor.author | Hammarström, Lennart | - |
dc.contributor.author | Pan-Hammarström, Qiang | - |
dc.contributor.author | Abolhassani, Hassan | - |
dc.contributor.author | Mane, Shrikant | - |
dc.contributor.author | Marr, Nico | - |
dc.contributor.author | Dalgard, Clifton L. | - |
dc.contributor.author | Ata, Manar | - |
dc.contributor.author | Biondi, Andrea | - |
dc.contributor.author | Al Ali, Fatima | - |
dc.contributor.author | Khan, Taushif | - |
dc.contributor.author | Spaan, András N. | - |
dc.contributor.author | Bonfanti, Paolo | - |
dc.contributor.author | Tubiana, Sarah | - |
dc.contributor.author | Burdet, Charles | - |
dc.contributor.author | Nussbaum, Robert L. | - |
dc.contributor.author | Kahn-Kirby, Amanda | - |
dc.contributor.author | Snow, Andrew L. | - |
dc.contributor.author | Bustamante, Jacinta | - |
dc.contributor.author | Puel, Anne | - |
dc.contributor.author | Boisson-Dupuis, Stéphanie | - |
dc.contributor.author | Notarangelo, Luigi D. | - |
dc.contributor.author | Zhang, Shen-Ying | - |
dc.contributor.author | Su, Helen C. | - |
dc.contributor.author | Béziat, Vivien | - |
dc.date.accessioned | 2021-10-04T09:39:36Z | - |
dc.date.available | 2021-10-04T09:39:36Z | - |
dc.date.issued | 2021-08-19 | - |
dc.identifier.issn | 2470-9468 | - |
dc.identifier.uri | http://hdl.handle.net/2445/180375 | - |
dc.description.abstract | Autosomal 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.extent | 22 p. | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | - |
dc.publisher | American Association for the Advancement of Science (AAAS) | - |
dc.relation.isformatof | Reproducció del document publicat a: https://doi.org/10.1126/sciimmunol.abl4348 | - |
dc.relation.ispartof | Science Immunology, 2021, vol. 6, num. 62 | - |
dc.relation.uri | https://doi.org/10.1126/sciimmunol.abl4348 | - |
dc.rights | cc by (c) Asano, Takaki et al, 2021 | - |
dc.rights.uri | http://creativecommons.org/licenses/by/3.0/es/ | * |
dc.source | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) | - |
dc.subject.classification | COVID-19 | - |
dc.subject.classification | Proteïnes | - |
dc.subject.classification | Resposta immunitària | - |
dc.subject.other | COVID-19 | - |
dc.subject.other | Proteins | - |
dc.subject.other | Immune response | - |
dc.title | X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19 | - |
dc.type | info:eu-repo/semantics/article | - |
dc.type | info:eu-repo/semantics/publishedVersion | - |
dc.date.updated | 2021-10-01T11:49:37Z | - |
dc.relation.projectID | info:eu-repo/grantAgreement/EC/H2020/824110/EU//EASI-Genomics | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
dc.identifier.pmid | 34413140 | - |
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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sciimmunol.abl4348.pdf | 2.06 MB | Adobe PDF | View/Open |
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