Autor segons l'article: Zhang, Qian; Bastard, Paul; Liu, Zhiyong; Le Pen, Jeremie; Moncada-Velez, Marcela; Chen, Jie; Ogishi, Masato; Sabli, Ira K D; Hodeib, Stephanie; Korol, Cecilia; Rosain, Jeremie; Bilguvar, Kaya; Ye, Junqiang; Bolze, Alexandre; Bigio, Benedetta; Yang, Rui; Arias, Andres Augusto; Zhou, Qinhua; Zhang, Yu; Onodi, Fanny; Korniotis, Sarantis; Karpf, Lea; Philippot, Quentin; Chbihi, Marwa; Bonnet-Madin, Lucie; Dorgham, Karim; Smith, Nikaia; Schneider, William M; Razooky, Brandon S; Hoffmann, Hans-Heinrich; Michailidis, Eleftherios; Moens, Leen; Han, Ji Eun; Lorenzo, Lazaro; Bizien, Lucy; Meade, Philip; Neehus, Anna-Lena; Ugurbil, Aileen Camille; Corneau, Aurelien; Kerner, Gaspard; Zhang, Peng; Rapaport, Franck; Seeleuthner, Yoann; Manry, Jeremy; Masson, Cecile; Schmitt, Yohann; Schlueter, Agatha; Le Voyer, Tom; Khan, Taushif; Li, Juan; Fellay, Jacques; Roussel, Lucie; Shahrooei, Mohammad; Alosaimi, Mohammed F; Mansouri, Davood; Al-Saud, Haya; Al-Mulla, Fahd; Almourfi, Feras; Al-Muhsen, Saleh Zaid; Alsohime, Fahad; Al Turki, Saeed; Hasanato, Rana; van de Beek, Diederik; Biondi, Andrea; Bettini, Laura Rachele; D'Angio, Mariella; Bonfanti, Paolo; Imberti, Luisa; Sottini, Alessandra; Paghera, Simone; Quiros-Roldan, Eugenia; Rossi, Camillo; Oler, Andrew J; Tompkins, Miranda F; Alba, Camille; Vandernoot, Isabelle; Goffard, Jean-Christophe; Smits, Guillaume; Migeotte, Isabelle; Haerynck, Filomeen; Soler-Palacin, Pere; Martin-Nalda, Andrea; Colobran, Roger; Morange, Pierre-Emmanuel; Keles, Sevgi; Colkesen, Fatma; Ozcelik, Tayfun; Yasar, Kadriye Kart; Senoglu, Sevtap; Karabela, Semsi Nur; Rodriguez-Gallego, Carlos; Novelli, Giuseppe; Hraiech, Sami; Tandjaoui-Lambiotte, Yacine; Duval, Xavier; Laouenan, Cedric; Snow, Andrew L; Dalgard, Clifton L; Milner, Joshua D; Vinh, Donald C; Mogensen, Trine H; Marr, Nico; Spaan, Andras N; Boisson, Bertrand; Boisson-Dupuis, Stephanie; Bustamante, Jacinta; Puel, Anne; Ciancanelli, Michael J; Meyts, Isabelle; Maniatis, Tom; Soumelis, Vassili; Amara, Ali; Nussenzweig, Michel; Garcia-Sastre, Adolfo; Krammer, Florian; Pujol, Aurora; Duffy, Darragh; Lifton, Richard P; Zhang, Shen-Ying; Gorochov, Guy; Beziat, Vivien; Jouanguy, Emmanuelle; Sancho-Shimizu, Vanessa; Rice, Charles M; Abel, Laurent; Notarangelo, Luigi D; Cobat, Aurelie; Su, Helen C; Casanova, Jean-Laurent
Departament: Medicina i Cirurgia
Autor/s de la URV: Auguet Quintillà, Maria Teresa
Paraules clau: Susceptibility Nf-kappa-b Herpes-simplex encephalitis Deficiency
Resum: Clinical outcome upon infection with SARS-CoV-2 ranges from silent infection to lethal 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 TLR3- and 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 define LOF variants in 23 patients (3.5%), aged 17 to 77 years, underlying autosomal recessive or dominant deficiencies. We show that human fibroblasts with mutations affecting this pathway 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.Copyright © 2020, American Association for the Advancement of Science.
Àrees temàtiques: Zootecnia / recursos pesqueiros Saúde coletiva Química Psychology Psicología Planejamento urbano e regional / demografia Multidisciplinary sciences Multidisciplinary Medicina veterinaria Medicina ii Medicina i Materiais Interdisciplinar History and philosophy of science Geografía Geociências General o multidisciplinar General medicine Farmacia Ensino Engenharias iv Engenharias iii Engenharias ii Engenharias i Educação física Economia Direito Ciencias sociales Ciências biológicas iii Ciências biológicas ii Ciências biológicas i Ciências ambientais Ciências agrárias i Ciência política e relações internacionais Biotecnología Biodiversidade Astronomia / física Antropologia / arqueologia Administração pública e de empresas, ciências contábeis e turismo
Accès a la llicència d'ús: https://creativecommons.org/licenses/by/3.0/es/
Adreça de correu electrònic de l'autor: mariateresa.auguet@urv.cat
Identificador de l'autor: 0000-0003-0396-6428
Data d'alta del registre: 2024-09-28
Versió de l'article dipositat: info:eu-repo/semantics/publishedVersion
Enllaç font original: https://science.sciencemag.org/content/370/6515/eabd4570
URL Document de llicència: https://repositori.urv.cat/ca/proteccio-de-dades/
Referència a l'article segons font original: Science. 370 (6515): 422-+
Referència de l'ítem segons les normes APA: Zhang, Qian; Bastard, Paul; Liu, Zhiyong; Le Pen, Jeremie; Moncada-Velez, Marcela; Chen, Jie; Ogishi, Masato; Sabli, Ira K D; Hodeib, Stephanie; Korol (2020). Inborn errors of type I IFN immunity in patients with life-threatening COVID-19. Science, 370(6515), 422-+. DOI: 10.1126/science.abd4570
DOI de l'article: 10.1126/science.abd4570
Entitat: Universitat Rovira i Virgili
Any de publicació de la revista: 2020
Tipus de publicació: Journal Publications
Repositori URV