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Zhang, Qian
ORCID: 0000-0002-9040-3289, Bastard, Paul
ORCID: 0000-0002-5926-8437, Liu, Zhiyong
ORCID: 0000-0001-6473-348X, Le Pen, Jérémie
ORCID: 0000-0001-7025-9526, Moncada-Velez, Marcela
ORCID: 0000-0002-3073-5345, Chen, Jie
ORCID: 0000-0002-5354-4170, Ogishi, Masato
ORCID: 0000-0003-2421-7389, Sabli, Ira KD
ORCID: 0000-0002-0170-2990, Hodeib, Stephanie
ORCID: 0000-0002-5978-6189, Korol, Cecilia
ORCID: 0000-0002-0023-8823 et al (show 128 more authors) , Rosain, Jérémie
ORCID: 0000-0002-2822-161X, Bilguvar, Kaya
ORCID: 0000-0002-7313-7652, Ye, Junqiang
ORCID: 0000-0002-4529-0713, Bolze, Alexandre
ORCID: 0000-0001-7399-2766, Bigio, Benedetta
ORCID: 0000-0001-7291-5638, Yang, Rui
ORCID: 0000-0003-4427-2158, Arias, Andrés Augusto
ORCID: 0000-0002-9478-8403, Zhou, Qinhua
ORCID: 0000-0002-5112-3727, Zhang, Yu, Onodi, Fanny, Korniotis, Sarantis, Karpf, Léa, Philippot, Quentin, Chbihi, Marwa
ORCID: 0000-0002-2771-851X, Bonnet-Madin, Lucie
ORCID: 0000-0002-9848-3287, Dorgham, Karim
ORCID: 0000-0001-9539-3203, Smith, Nikaïa
ORCID: 0000-0002-0202-612X, Schneider, William M
ORCID: 0000-0001-9407-6118, Razooky, Brandon S
ORCID: 0000-0002-5263-1512, Hoffmann, Hans-Heinrich
ORCID: 0000-0003-0554-0244, Michailidis, Eleftherios
ORCID: 0000-0002-9907-4346, Moens, Leen, Han, Ji Eun
ORCID: 0000-0003-1112-9320, Lorenzo, Lazaro
ORCID: 0000-0001-6648-8684, Bizien, Lucy
ORCID: 0000-0001-9163-9122, Meade, Philip
ORCID: 0000-0002-6754-7209, Neehus, Anna-Lena
ORCID: 0000-0002-8573-6820, Ugurbil, Aileen Camille
ORCID: 0000-0002-9450-3092, Corneau, Aurélien
ORCID: 0000-0003-1272-6872, Kerner, Gaspard
ORCID: 0000-0003-0146-9428, Zhang, Peng
ORCID: 0000-0002-6129-567X, Rapaport, Franck
ORCID: 0000-0001-6553-2110, Seeleuthner, Yoann, Manry, Jeremy
ORCID: 0000-0001-5998-2051, Masson, Cecile
ORCID: 0000-0001-7870-7821, Schmitt, Yohann, Schlüter, Agatha
ORCID: 0000-0001-6732-1528, Le Voyer, Tom
ORCID: 0000-0002-0630-8626, Khan, Taushif
ORCID: 0000-0002-7917-8965, Li, Juan, Fellay, Jacques
ORCID: 0000-0002-8240-939X, Roussel, Lucie
ORCID: 0000-0001-5355-702X, Shahrooei, Mohammad, Alosaimi, Mohammed F
ORCID: 0000-0002-8025-3491, Mansouri, Davood, Al-Saud, Haya, Al-Mulla, Fahd
ORCID: 0000-0001-5409-3829, Almourfi, Feras
ORCID: 0000-0002-5166-4662, Al-Muhsen, Saleh Zaid, Alsohime, Fahad
ORCID: 0000-0002-4979-3895, Al Turki, Saeed
ORCID: 0000-0001-7017-336X, Hasanato, Rana
ORCID: 0000-0002-4697-2222, van de Beek, Diederik
ORCID: 0000-0002-4571-044X, Biondi, Andrea
ORCID: 0000-0002-6757-6173, Bettini, Laura Rachele
ORCID: 0000-0002-0280-1704, D'Angio', Mariella, Bonfanti, Paolo
ORCID: 0000-0001-7289-8823, Imberti, Luisa
ORCID: 0000-0002-2075-8391, Sottini, Alessandra, Paghera, Simone, Quiros-Roldan, Eugenia, Rossi, Camillo, Oler, Andrew J
ORCID: 0000-0002-6310-0434, Tompkins, Miranda F
ORCID: 0000-0003-2941-7515, Alba, Camille
ORCID: 0000-0002-0458-1629, Vandernoot, Isabelle, Goffard, Jean-Christophe, Smits, Guillaume
ORCID: 0000-0003-2845-6758, Migeotte, Isabelle, Haerynck, Filomeen
ORCID: 0000-0001-9161-7361, Soler-Palacin, Pere
ORCID: 0000-0002-0346-5570, Martin-Nalda, Andrea
ORCID: 0000-0002-3590-0186, Colobran, Roger
ORCID: 0000-0002-5964-536X, Morange, Pierre-Emmanuel
ORCID: 0000-0002-9065-722X, Keles, Sevgi, Çölkesen, Fatma
ORCID: 0000-0001-9545-5179, Ozcelik, Tayfun, Yasar, Kadriye Kart
ORCID: 0000-0003-2963-4894, Senoglu, Sevtap
ORCID: 0000-0003-4796-9583, Karabela, Şemsi Nur
ORCID: 0000-0003-2562-3004, Rodríguez-Gallego, Carlos
ORCID: 0000-0002-4344-8644, Novelli, Giuseppe
ORCID: 0000-0002-7781-602X, Hraiech, Sami, Tandjaoui-Lambiotte, Yacine
ORCID: 0000-0003-1123-4788, Duval, Xavier, Laouénan, Cédric
ORCID: 0000-0002-3681-6314, COVID-STORM Clinicians, , COVID Clinicians, , Imagine COVID Group, , French COVID Cohort Study Group, , CoV-Contact Cohort, , Amsterdam UMC Covid-19 Biobank, , COVID Human Genetic Effort, , NIAID-USUHS/TAGC COVID Immunity Group, , Snow, Andrew L
ORCID: 0000-0002-8728-6691, Dalgard, Clifton L
ORCID: 0000-0003-2025-8239, Milner, Joshua D, Vinh, Donald C
ORCID: 0000-0003-1347-7767, Mogensen, Trine H
ORCID: 0000-0002-1853-9704, Marr, Nico, Spaan, András N
ORCID: 0000-0001-5981-7259, Boisson, Bertrand
ORCID: 0000-0001-5240-3555, Boisson, Bertrand
ORCID: 0000-0002-1927-7072, Boisson-Dupuis, Stéphanie
ORCID: 0000-0002-7115-116X, Bustamante, Jacinta
ORCID: 0000-0002-3439-2482, Puel, Anne
ORCID: 0000-0003-2603-0323, Ciancanelli, Michael J
ORCID: 0000-0002-4623-852X, Meyts, Isabelle
ORCID: 0000-0003-1214-0302, Maniatis, Tom
ORCID: 0000-0002-2722-8633, Soumelis, Vassili, Amara, Ali
ORCID: 0000-0002-0283-1815, Nussenzweig, Michel
ORCID: 0000-0003-0592-8564, García-Sastre, Adolfo
ORCID: 0000-0002-6551-1827, Krammer, Florian
ORCID: 0000-0003-4121-776X, Pujol, Aurora
ORCID: 0000-0002-9606-0600, Duffy, Darragh
ORCID: 0000-0002-8875-2308, Lifton, Richard P, Zhang, Shen-Ying, Gorochov, Guy
ORCID: 0000-0003-2097-9677, Béziat, Vivien
ORCID: 0000-0002-4020-824X, Jouanguy, Emmanuelle
ORCID: 0000-0002-7358-9157, Sancho-Shimizu, Vanessa
ORCID: 0000-0002-3519-0727, Rice, Charles M, Abel, Laurent
ORCID: 0000-0001-7016-6493, Notarangelo, Luigi D
ORCID: 0000-0002-8335-0262, Cobat, Aurélie
ORCID: 0000-0001-7209-6257, Su, Helen C
ORCID: 0000-0002-5582-9110 and Casanova, Jean-Laurent
ORCID: 0000-0002-7782-4169
(2020)
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.
Science (New York, N.Y.), 370 (6515).
eabd4570-.
Access the full-text of this item by clicking on the
Open Access link.
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.
Item Type: |
Article
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Uncontrolled Keywords: |
COVID-STORM Clinicians, COVID Clinicians, Imagine COVID Group, French COVID Cohort Study Group, CoV-Contact Cohort, Amsterdam UMC Covid-19 Biobank, COVID Human Genetic Effort, NIAID-USUHS/TAGC COVID Immunity Group, Humans, Pneumonia, Viral, Coronavirus Infections, Genetic Predisposition to Disease, Interferon Type I, Alleles, Adolescent, Adult, Aged, Aged, 80 and over, Middle Aged, Child, Child, Preschool, Infant, Female, Male, Interferon Regulatory Factor-7, Toll-Like Receptor 3, Receptor, Interferon alpha-beta, Young Adult, Genetic Loci, Asymptomatic Infections, Pandemics, Betacoronavirus, Loss of Function Mutation, COVID-19, SARS-CoV-2 |
Divisions: |
Faculty of Health and Life Sciences Faculty of Health and Life Sciences > Institute of Infection, Veterinary and Ecological Sciences |
Depositing User: |
Symplectic Admin
|
Date Deposited: |
26 May 2021 10:30 |
Last Modified: |
11 Feb 2023 02:57 |
DOI: |
10.1126/science.abd4570 |
Open Access URL: |
https://science.sciencemag.org/content/370/6515/ea... |
Related URLs: |
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URI: |
https://livrepository.liverpool.ac.uk/id/eprint/3124105 |