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http://hdl.handle.net/2445/173758
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DC Field | Value | Language |
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dc.contributor.author | Zhang, Qian | - |
dc.contributor.author | Dorgham, Karim | - |
dc.contributor.author | Schlüter, Agatha | - |
dc.contributor.author | Quiros Roldan, Eugenia | - |
dc.contributor.author | Novelli, Giuseppe | - |
dc.contributor.author | Planas Serra, Laura | - |
dc.contributor.author | Rodríguez Palmero, Agustí | - |
dc.contributor.author | COVID-STORM Clinicians | - |
dc.contributor.author | COVID Clinicians | - |
dc.contributor.author | Imagine COVID Group | - |
dc.contributor.author | French COVID Cohort Study Group | - |
dc.contributor.author | CoV-Contact Cohort | - |
dc.contributor.author | Amsterdam UMC Covid-19 Biobank | - |
dc.contributor.author | COVID Human Genetic Effort | - |
dc.contributor.author | NIAID-USUHS/TAGC COVID Immunity Group | - |
dc.date.accessioned | 2021-02-09T09:34:22Z | - |
dc.date.available | 2021-02-09T09:34:22Z | - |
dc.date.issued | 2020-10-23 | - |
dc.identifier.uri | http://hdl.handle.net/2445/173758 | - |
dc.description.abstract | Clinical outcome upon infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) ranges from silent infection to lethal coronavirus disease 2019 (COVID-19). We have found an enrichment in rare variants predicted to be loss-of-function (LOF) at the 13 human loci known to govern Toll-like receptor 3 (TLR3)- and interferon regulatory factor 7 (IRF7)-dependent type I interferon (IFN) immunity to influenza virus in 659 patients with life-threatening COVID-19 pneumonia relative to 534 subjects with asymptomatic or benign infection. By testing these and other rare variants at these 13 loci, we experimentally defined LOF variants underlying autosomal-recessive or autosomal-dominant deficiencies in 23 patients (3.5%) 17 to 77 years of age. We show that human fibroblasts with mutations affecting this circuit are vulnerable to SARS-CoV-2. Inborn errors of TLR3-and IRF7-dependent type I IFN immunity can underlie life-threatening COVID-19 pneumonia in patients with no prior severe infection. | - |
dc.format.extent | 14 p. | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | - |
dc.publisher | American Association for the Advancement of Science | - |
dc.relation.isformatof | Reproducció del document publicat a: https://doi.org/10.1126/science.abd4570 | - |
dc.relation.ispartof | Science, 2020, vol. 370, num.6515, p. 422 | - |
dc.relation.uri | https://doi.org/10.1126/science.abd4570 | - |
dc.rights | cc by (c) Zhang et al., 2020 | - |
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 | SARS-CoV-2 | - |
dc.subject.classification | COVID-19 | - |
dc.subject.other | SARS-CoV-2 | - |
dc.subject.other | COVID-19 | - |
dc.title | Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 | - |
dc.type | info:eu-repo/semantics/article | - |
dc.type | info:eu-repo/semantics/publishedVersion | - |
dc.date.updated | 2021-02-08T10:24:13Z | - |
dc.relation.projectID | info:eu-repo/grantAgreement/EC/H2020/824110/EU//EASI-Genomics | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
dc.identifier.pmid | 32972995 | - |
Appears in Collections: | Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer) Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
Files in This Item:
File | Description | Size | Format | |
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ZhangQ.pdf | 1.42 MB | Adobe PDF | View/Open |
This item is licensed under a Creative Commons License