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

(2020) SCIENCE. 370(6515). p.422-+
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Organization
Abstract
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.
Keywords
Multidisciplinary, HERPES-SIMPLEX ENCEPHALITIS, NF-KAPPA-B, DEFICIENCY, SUSCEPTIBILITY

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MLA
Zhang, Qian, et al. “Inborn Errors of Type I IFN Immunity in Patients with Life-Threatening COVID-19.” SCIENCE, vol. 370, no. 6515, 2020, pp. 422-+, doi:10.1126/science.abd4570.
APA
Zhang, Q., Bastard, P., Liu, Z., Le Pen, J., Moncada-Velez, M., Chen, J., … TAGC COVID Immunity Group, [missing]. (2020). Inborn errors of type I IFN immunity in patients with life-threatening COVID-19. SCIENCE, 370(6515), 422-+. https://doi.org/10.1126/science.abd4570
Chicago author-date
Zhang, Qian, Paul Bastard, Zhiyong Liu, Jérémie Le Pen, Marcela Moncada-Velez, Jie Chen, Masato Ogishi, et al. 2020. “Inborn Errors of Type I IFN Immunity in Patients with Life-Threatening COVID-19.” SCIENCE 370 (6515): 422-+. https://doi.org/10.1126/science.abd4570.
Chicago author-date (all authors)
Zhang, Qian, Paul Bastard, Zhiyong Liu, Jérémie Le Pen, Marcela Moncada-Velez, Jie Chen, Masato Ogishi, Ira K. D. Sabli, Stephanie Hodeib, Cecilia Korol, Jérémie Rosain, Kaya Bilguvar, Junqiang Ye, Alexandre Bolze, Benedetta Bigio, Rui Yang, Andrés Augusto Arias, Qinhua Zhou, Yu Zhang, Fanny Onodi, Sarantis Korniotis, Léa Karpf, Quentin Philippot, Marwa Chbihi, Lucie Bonnet-Madin, Karim Dorgham, Nikaïa Smith, William M. Schneider, Brandon S. Razooky, Hans-Heinrich Hoffmann, Eleftherios Michailidis, Leen Moens, Ji Eun Han, Lazaro Lorenzo, Lucy Bizien, Philip Meade, Anna-Lena Neehus, Aileen Camille Ugurbil, Aurélien Corneau, Gaspard Kerner, Peng Zhang, Franck Rapaport, Yoann Seeleuthner, Jeremy Manry, Cecile Masson, Yohann Schmitt, Agatha Schlüter, Tom Le Voyer, Taushif Khan, Juan Li, Jacques Fellay, Lucie Roussel, Mohammad Shahrooei, Mohammed F. Alosaimi, Davood Mansouri, Haya Al-Saud, Fahd Al-Mulla, Feras Almourfi, Saleh Zaid Al-Muhsen, Fahad Alsohime, Saeed Al Turki, Rana Hasanato, Diederik van de Beek, Andrea Biondi, Laura Rachele Bettini, Mariella D’Angio, Paolo Bonfanti, Luisa Imberti, Alessandra Sottini, Simone Paghera, Eugenia Quiros-Roldan, Camillo Rossi, Andrew J. Oler, Miranda F. Tompkins, Camille Alba, Isabelle Vandernoot, Jean-Christophe Goffard, Guillaume Smits, Isabelle Migeotte, Filomeen Haerynck, Pere Soler-Palacin, Andrea Martin-Nalda, Roger Colobran, Pierre-Emmanuel Morange, Sevgi Keles, Fatma Çölkesen, Tayfun Ozcelik, Kadriye Kart Yasar, Sevtap Senoglu, Şemsi Nur Karabela, Carlos Rodríguez Gallego, Giuseppe Novelli, Sami Hraiech, Yacine Tandjaoui-Lambiotte, Xavier Duval, Cédric Laouénan, Andrew L. Snow, Clifton L. Dalgard, Joshua Milner, Donald C. Vinh, Trine H. Mogensen, Nico Marr, András N. Spaan, Bertrand Boisson, Stéphanie Boisson-Dupuis, Jacinta Bustamante, Anne Puel, Michael Ciancanelli, Isabelle Meyts, Tom Maniatis, Vassili Soumelis, Ali Amara, Michel Nussenzweig, Adolfo García-Sastre, Florian Krammer, Aurora Pujol, Darragh Duffy, Richard Lifton, Shen-Ying Zhang, Guy Gorochov, Vivien Béziat, Emmanuelle Jouanguy, Vanessa Sancho-Shimizu, Charles M. Rice, Laurent Abel, Luigi D. Notarangelo, Aurélie Cobat, Helen C. Su, Jean-Laurent Casanova, Cedric Bosteels, Levi Hoste, Eric Hoste, Leslie Naesens, Simon Tavernier, [missing] COVID-STORM Clinicians, [missing] COVID Clinicians, Eva Van Braeckel, [missing] Imagine COVID Group, [missing] French COVID Cohort Study Group, [missing] CoV-Contact Cohort, [missing] Amsterdam UMC Covid-19, [missing] Biobank, [missing] COVID Human Genetic Effort, [missing] NIAID-USUHS, and [missing] TAGC COVID Immunity Group. 2020. “Inborn Errors of Type I IFN Immunity in Patients with Life-Threatening COVID-19.” SCIENCE 370 (6515): 422-+. doi:10.1126/science.abd4570.
Vancouver
1.
Zhang Q, Bastard P, Liu Z, Le Pen J, Moncada-Velez M, Chen J, et al. Inborn errors of type I IFN immunity in patients with life-threatening COVID-19. SCIENCE. 2020;370(6515):422-+.
IEEE
[1]
Q. Zhang et al., “Inborn errors of type I IFN immunity in patients with life-threatening COVID-19,” SCIENCE, vol. 370, no. 6515, pp. 422-+, 2020.
@article{8676041,
  abstract     = {{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.}},
  articleno    = {{eabd4570}},
  author       = {{Zhang, Qian and Bastard, Paul and Liu, Zhiyong and Le Pen, Jérémie and Moncada-Velez, Marcela and Chen, Jie and Ogishi, Masato and Sabli, Ira K. D. and Hodeib, Stephanie and Korol, Cecilia and Rosain, Jérémie and Bilguvar, Kaya and Ye, Junqiang and Bolze, Alexandre and Bigio, Benedetta and Yang, Rui and Arias, Andrés Augusto and Zhou, Qinhua and Zhang, Yu and Onodi, Fanny and Korniotis, Sarantis and Karpf, Léa and Philippot, Quentin and Chbihi, Marwa and Bonnet-Madin, Lucie and Dorgham, Karim and Smith, Nikaïa and Schneider, William M. and Razooky, Brandon S. and Hoffmann, Hans-Heinrich and Michailidis, Eleftherios and Moens, Leen and Han, Ji Eun and Lorenzo, Lazaro and Bizien, Lucy and Meade, Philip and Neehus, Anna-Lena and Ugurbil, Aileen Camille and Corneau, Aurélien and Kerner, Gaspard and Zhang, Peng and Rapaport, Franck and Seeleuthner, Yoann and Manry, Jeremy and Masson, Cecile and Schmitt, Yohann and Schlüter, Agatha and Le Voyer, Tom and Khan, Taushif and Li, Juan and Fellay, Jacques and Roussel, Lucie and Shahrooei, Mohammad and Alosaimi, Mohammed F. and Mansouri, Davood and Al-Saud, Haya and Al-Mulla, Fahd and Almourfi, Feras and Al-Muhsen, Saleh Zaid and Alsohime, Fahad and Al Turki, Saeed and Hasanato, Rana and van de Beek, Diederik and Biondi, Andrea and Bettini, Laura Rachele and D’Angio, Mariella and Bonfanti, Paolo and Imberti, Luisa and Sottini, Alessandra and Paghera, Simone and Quiros-Roldan, Eugenia and Rossi, Camillo and Oler, Andrew J. and Tompkins, Miranda F. and Alba, Camille and Vandernoot, Isabelle and Goffard, Jean-Christophe and Smits, Guillaume and Migeotte, Isabelle and Haerynck, Filomeen and Soler-Palacin, Pere and Martin-Nalda, Andrea and Colobran, Roger and Morange, Pierre-Emmanuel and Keles, Sevgi and Çölkesen, Fatma and Ozcelik, Tayfun and Yasar, Kadriye Kart and Senoglu, Sevtap and Karabela, Şemsi Nur and Gallego, Carlos Rodríguez and Novelli, Giuseppe and Hraiech, Sami and Tandjaoui-Lambiotte, Yacine and Duval, Xavier and Laouénan, Cédric and Snow, Andrew L. and Dalgard, Clifton L. and Milner, Joshua and Vinh, Donald C. and Mogensen, Trine H. and Marr, Nico and Spaan, András N. and Boisson, Bertrand and Boisson-Dupuis, Stéphanie and Bustamante, Jacinta and Puel, Anne and Ciancanelli, Michael and Meyts, Isabelle and Maniatis, Tom and Soumelis, Vassili and Amara, Ali and Nussenzweig, Michel and García-Sastre, Adolfo and Krammer, Florian and Pujol, Aurora and Duffy, Darragh and Lifton, Richard and Zhang, Shen-Ying and Gorochov, Guy and Béziat, Vivien and Jouanguy, Emmanuelle and Sancho-Shimizu, Vanessa and Rice, Charles M. and Abel, Laurent and Notarangelo, Luigi D. and Cobat, Aurélie and Su, Helen C. and Casanova, Jean-Laurent and Bosteels, Cedric and Hoste, Levi and Hoste, Eric and Naesens, Leslie and Tavernier, Simon and COVID-STORM Clinicians, [missing] and COVID Clinicians, [missing] and Van Braeckel, Eva and Imagine COVID Group, [missing] and French COVID Cohort Study Group, [missing] and CoV-Contact Cohort, [missing] and Amsterdam UMC Covid-19, [missing] and Biobank, [missing] and COVID Human Genetic Effort, [missing] and NIAID-USUHS, [missing] and TAGC COVID Immunity Group, [missing]}},
  issn         = {{0036-8075}},
  journal      = {{SCIENCE}},
  keywords     = {{Multidisciplinary,HERPES-SIMPLEX ENCEPHALITIS,NF-KAPPA-B,DEFICIENCY,SUSCEPTIBILITY}},
  language     = {{eng}},
  number       = {{6515}},
  pages        = {{eabd4570:422--eabd4570:+}},
  title        = {{Inborn errors of type I IFN immunity in patients with life-threatening COVID-19}},
  url          = {{http://dx.doi.org/10.1126/science.abd4570}},
  volume       = {{370}},
  year         = {{2020}},
}

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