Articles producció científicaMedicina i Cirurgia

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

  • Dades identificatives

    Identificador:  imarina:8681133
    Handle: https://hdl.handle.net/20.500.11797/imarina8681133
    Autors:  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
    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.

  • Altres:

    Enllaç font original: https://science.sciencemag.org/content/370/6515/eabd4570
    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
    Referència a l'article segons font original: Science. 370 (6515): 422-+
    DOI de l'article: 10.1126/science.abd4570
    Any de publicació de la revista: 2020-10-23
    Entitat: Universitat Rovira i Virgili
    Versió de l'article dipositat: info:eu-repo/semantics/publishedVersion
    Data d'alta del registre: 2026-03-02
    Autor/s de la URV: Auguet Quintillà, Maria Teresa
    Departament: Medicina i Cirurgia
    URL Document de llicència: https://repositori.urv.cat/ca/proteccio-de-dades/
    Tipus de publicació: Journal Publications
    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
    Accès a la llicència d'ús: https://creativecommons.org/licenses/by/3.0/es/
    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, Ciencias humanas, 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
    Adreça de correu electrònic de l'autor: mariateresa.auguet@urv.cat

  • Paraules clau:

    Susceptibility
    Nf-kappa-b
    Herpes-simplex encephalitis
    Good health and well-being
    Deficiency
    History and Philosophy of Science
    Multidisciplinary
    Multidisciplinary Sciences
    Zootecnia / recursos pesqueiros
    Saúde coletiva
    Química
    Psychology
    Psicología
    Planejamento urbano e regional / demografia
    Medicina veterinaria
    Medicina ii
    Medicina i
    Materiais
    Interdisciplinar
    Geografía
    Geociências
    General o multidisciplinar
    General medicine
    Farmacia
    Ensino
    Engenharias iv
    Engenharias iii
    Engenharias ii
    Engenharias i
    Educação física
    Economia
    Direito
    Ciencias sociales
    Ciencias humanas
    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

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