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Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
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-...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
American Association for the Advancement of Science
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7857407/ https://www.ncbi.nlm.nih.gov/pubmed/32972995 http://dx.doi.org/10.1126/science.abd4570 |
| _version_ | 1783646441376317440 |
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| author | Zhang, Qian Bastard, Paul Liu, Zhiyong Le Pen, Jérémie Moncada-Velez, Marcela Chen, Jie Ogishi, Masato Sabli, Ira K. D. Hodeib, Stephanie Korol, Cecilia Rosain, Jérémie Bilguvar, Kaya Ye, Junqiang Bolze, Alexandre Bigio, Benedetta Yang, Rui Arias, Andrés Augusto Zhou, Qinhua Zhang, Yu Onodi, Fanny Korniotis, Sarantis Karpf, Léa Philippot, Quentin Chbihi, Marwa Bonnet-Madin, Lucie Dorgham, Karim Smith, Nikaïa 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, Aurélien Kerner, Gaspard Zhang, Peng Rapaport, Franck Seeleuthner, Yoann Manry, Jeremy Masson, Cecile Schmitt, Yohann Schlüter, 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 Çölkesen, Fatma Ozcelik, Tayfun Yasar, Kadriye Kart Senoglu, Sevtap Karabela, Şemsi Nur Rodríguez-Gallego, Carlos Novelli, Giuseppe Hraiech, Sami Tandjaoui-Lambiotte, Yacine Duval, Xavier Laouénan, Cédric Snow, Andrew L. Dalgard, Clifton L. Milner, Joshua D. Vinh, Donald C. Mogensen, Trine H. Marr, Nico Spaan, András N. Boisson, Bertrand Boisson-Dupuis, Stéphanie Bustamante, Jacinta Puel, Anne Ciancanelli, Michael J. Meyts, Isabelle Maniatis, Tom Soumelis, Vassili Amara, Ali Nussenzweig, Michel García-Sastre, Adolfo Krammer, Florian Pujol, Aurora Duffy, Darragh Lifton, Richard P. Zhang, Shen-Ying Gorochov, Guy Béziat, Vivien Jouanguy, Emmanuelle Sancho-Shimizu, Vanessa Rice, Charles M. Abel, Laurent Notarangelo, Luigi D. Cobat, Aurélie Su, Helen C. Casanova, Jean-Laurent |
| author_facet | Zhang, Qian Bastard, Paul Liu, Zhiyong Le Pen, Jérémie Moncada-Velez, Marcela Chen, Jie Ogishi, Masato Sabli, Ira K. D. Hodeib, Stephanie Korol, Cecilia Rosain, Jérémie Bilguvar, Kaya Ye, Junqiang Bolze, Alexandre Bigio, Benedetta Yang, Rui Arias, Andrés Augusto Zhou, Qinhua Zhang, Yu Onodi, Fanny Korniotis, Sarantis Karpf, Léa Philippot, Quentin Chbihi, Marwa Bonnet-Madin, Lucie Dorgham, Karim Smith, Nikaïa 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, Aurélien Kerner, Gaspard Zhang, Peng Rapaport, Franck Seeleuthner, Yoann Manry, Jeremy Masson, Cecile Schmitt, Yohann Schlüter, 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 Çölkesen, Fatma Ozcelik, Tayfun Yasar, Kadriye Kart Senoglu, Sevtap Karabela, Şemsi Nur Rodríguez-Gallego, Carlos Novelli, Giuseppe Hraiech, Sami Tandjaoui-Lambiotte, Yacine Duval, Xavier Laouénan, Cédric Snow, Andrew L. Dalgard, Clifton L. Milner, Joshua D. Vinh, Donald C. Mogensen, Trine H. Marr, Nico Spaan, András N. Boisson, Bertrand Boisson-Dupuis, Stéphanie Bustamante, Jacinta Puel, Anne Ciancanelli, Michael J. Meyts, Isabelle Maniatis, Tom Soumelis, Vassili Amara, Ali Nussenzweig, Michel García-Sastre, Adolfo Krammer, Florian Pujol, Aurora Duffy, Darragh Lifton, Richard P. Zhang, Shen-Ying Gorochov, Guy Béziat, Vivien Jouanguy, Emmanuelle Sancho-Shimizu, Vanessa Rice, Charles M. Abel, Laurent Notarangelo, Luigi D. Cobat, Aurélie Su, Helen C. Casanova, Jean-Laurent |
| author_sort | Zhang, Qian |
| collection | PubMed |
| description | 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. |
| format | Online Article Text |
| id | pubmed-7857407 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2020 |
| publisher | American Association for the Advancement of Science |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-78574072021-02-05 Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 Zhang, Qian Bastard, Paul Liu, Zhiyong Le Pen, Jérémie Moncada-Velez, Marcela Chen, Jie Ogishi, Masato Sabli, Ira K. D. Hodeib, Stephanie Korol, Cecilia Rosain, Jérémie Bilguvar, Kaya Ye, Junqiang Bolze, Alexandre Bigio, Benedetta Yang, Rui Arias, Andrés Augusto Zhou, Qinhua Zhang, Yu Onodi, Fanny Korniotis, Sarantis Karpf, Léa Philippot, Quentin Chbihi, Marwa Bonnet-Madin, Lucie Dorgham, Karim Smith, Nikaïa 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, Aurélien Kerner, Gaspard Zhang, Peng Rapaport, Franck Seeleuthner, Yoann Manry, Jeremy Masson, Cecile Schmitt, Yohann Schlüter, 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 Çölkesen, Fatma Ozcelik, Tayfun Yasar, Kadriye Kart Senoglu, Sevtap Karabela, Şemsi Nur Rodríguez-Gallego, Carlos Novelli, Giuseppe Hraiech, Sami Tandjaoui-Lambiotte, Yacine Duval, Xavier Laouénan, Cédric Snow, Andrew L. Dalgard, Clifton L. Milner, Joshua D. Vinh, Donald C. Mogensen, Trine H. Marr, Nico Spaan, András N. Boisson, Bertrand Boisson-Dupuis, Stéphanie Bustamante, Jacinta Puel, Anne Ciancanelli, Michael J. Meyts, Isabelle Maniatis, Tom Soumelis, Vassili Amara, Ali Nussenzweig, Michel García-Sastre, Adolfo Krammer, Florian Pujol, Aurora Duffy, Darragh Lifton, Richard P. Zhang, Shen-Ying Gorochov, Guy Béziat, Vivien Jouanguy, Emmanuelle Sancho-Shimizu, Vanessa Rice, Charles M. Abel, Laurent Notarangelo, Luigi D. Cobat, Aurélie Su, Helen C. Casanova, Jean-Laurent Science Research Articles 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. American Association for the Advancement of Science 2020-10-23 2020-09-24 /pmc/articles/PMC7857407/ /pubmed/32972995 http://dx.doi.org/10.1126/science.abd4570 Text en Copyright © 2020 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works https://creativecommons.org/licenses/by/4.0/ https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution license (https://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
| spellingShingle | Research Articles Zhang, Qian Bastard, Paul Liu, Zhiyong Le Pen, Jérémie Moncada-Velez, Marcela Chen, Jie Ogishi, Masato Sabli, Ira K. D. Hodeib, Stephanie Korol, Cecilia Rosain, Jérémie Bilguvar, Kaya Ye, Junqiang Bolze, Alexandre Bigio, Benedetta Yang, Rui Arias, Andrés Augusto Zhou, Qinhua Zhang, Yu Onodi, Fanny Korniotis, Sarantis Karpf, Léa Philippot, Quentin Chbihi, Marwa Bonnet-Madin, Lucie Dorgham, Karim Smith, Nikaïa 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, Aurélien Kerner, Gaspard Zhang, Peng Rapaport, Franck Seeleuthner, Yoann Manry, Jeremy Masson, Cecile Schmitt, Yohann Schlüter, 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 Çölkesen, Fatma Ozcelik, Tayfun Yasar, Kadriye Kart Senoglu, Sevtap Karabela, Şemsi Nur Rodríguez-Gallego, Carlos Novelli, Giuseppe Hraiech, Sami Tandjaoui-Lambiotte, Yacine Duval, Xavier Laouénan, Cédric Snow, Andrew L. Dalgard, Clifton L. Milner, Joshua D. Vinh, Donald C. Mogensen, Trine H. Marr, Nico Spaan, András N. Boisson, Bertrand Boisson-Dupuis, Stéphanie Bustamante, Jacinta Puel, Anne Ciancanelli, Michael J. Meyts, Isabelle Maniatis, Tom Soumelis, Vassili Amara, Ali Nussenzweig, Michel García-Sastre, Adolfo Krammer, Florian Pujol, Aurora Duffy, Darragh Lifton, Richard P. Zhang, Shen-Ying Gorochov, Guy Béziat, Vivien Jouanguy, Emmanuelle Sancho-Shimizu, Vanessa Rice, Charles M. Abel, Laurent Notarangelo, Luigi D. Cobat, Aurélie Su, Helen C. Casanova, Jean-Laurent Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 |
| title | Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 |
| title_full | Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 |
| title_fullStr | Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 |
| title_full_unstemmed | Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 |
| title_short | Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 |
| title_sort | inborn errors of type i ifn immunity in patients with life-threatening covid-19 |
| topic | Research Articles |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7857407/ https://www.ncbi.nlm.nih.gov/pubmed/32972995 http://dx.doi.org/10.1126/science.abd4570 |
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