| Literature DB >> 32972995 |
Paul Bastard1,2, Zhiyong Liu3, Jérémie Le Pen4, Marcela Moncada-Velez3, Jie Chen3, Masato Ogishi3, Ira K D Sabli5, Stephanie Hodeib5, Cecilia Korol1, Jérémie Rosain1,2, Kaya Bilguvar6, Junqiang Ye7, Alexandre Bolze8, Benedetta Bigio3, Rui Yang3, Andrés Augusto Arias3,9,10, Qinhua Zhou3, Yu Zhang11,12, Richard P Lifton13,14,15, Shen-Ying Zhang3,1,2, Guy Gorochov16, Vivien Béziat3,1,2, Emmanuelle Jouanguy3,1,2, Vanessa Sancho-Shimizu5, Charles M Rice4, Laurent Abel3,1,2, Luigi D Notarangelo11,12, Aurélie Cobat3,1,2, Helen C Su11,12, Jean-Laurent Casanova17,1,2,18,19, Qian Zhang3, Fanny Onodi20, Sarantis Korniotis20, Léa Karpf20, Quentin Philippot1,2, Marwa Chbihi1,2, Lucie Bonnet-Madin21, Karim Dorgham16, Nikaïa Smith22, William M Schneider4, Brandon S Razooky4, Hans-Heinrich Hoffmann4, Eleftherios Michailidis4, Leen Moens23, Ji Eun Han3, Lazaro Lorenzo1,2, Lucy Bizien1,2, Philip Meade24, Anna-Lena Neehus1,2, Aileen Camille Ugurbil3, Aurélien Corneau25, Gaspard Kerner1,2, Peng Zhang3, Franck Rapaport3, Yoann Seeleuthner1,2, Jeremy Manry1,2, Cecile Masson26, Yohann Schmitt26, Agatha Schlüter27, Tom Le Voyer1,2, Taushif Khan28, Juan Li3, Jacques Fellay29,30,31, Lucie Roussel32, Mohammad Shahrooei33,34, Mohammed F Alosaimi35, Davood Mansouri36,37,38, Haya Al-Saud39, Fahd Al-Mulla40, Feras Almourfi39, Saleh Zaid Al-Muhsen41, Fahad Alsohime35, Saeed Al Turki42,43, Rana Hasanato35, Diederik van de Beek44, Andrea Biondi45, Laura Rachele Bettini45, Mariella D'Angio'45, Paolo Bonfanti46, Luisa Imberti47, Alessandra Sottini47, Simone Paghera47, Eugenia Quiros-Roldan48, Camillo Rossi49, Andrew J Oler50, Miranda F Tompkins51, Camille Alba51, Isabelle Vandernoot52, Jean-Christophe Goffard53, Guillaume Smits52, Isabelle Migeotte54, Filomeen Haerynck55, Pere Soler-Palacin56, Andrea Martin-Nalda56, Roger Colobran57, Pierre-Emmanuel Morange58, Sevgi Keles59, Fatma Çölkesen60, Tayfun Ozcelik61, Kadriye Kart Yasar62, Sevtap Senoglu62, Şemsi Nur Karabela62, Carlos Rodríguez-Gallego63,64, Giuseppe Novelli65, Sami Hraiech66, Yacine Tandjaoui-Lambiotte67,68, Xavier Duval69,70, Cédric Laouénan69,70,71, Andrew L Snow72, Clifton L Dalgard51,73, Joshua D Milner74, Donald C Vinh32, Trine H Mogensen75,76, Nico Marr28,77, András N Spaan3,78, Bertrand Boisson3,1,2, Stéphanie Boisson-Dupuis3,1,2, Jacinta Bustamante3,1,2,79, Anne Puel3,1,2, Michael J Ciancanelli3,80, Isabelle Meyts23,81, Tom Maniatis7,82, Vassili Soumelis20,83, Ali Amara21, Michel Nussenzweig84,18, Adolfo García-Sastre24,85,86,87, Florian Krammer24, Aurora Pujol27, Darragh Duffy22.
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.Entities:
Mesh：
Substances：
Year: 2020 PMID： 32972995 PMCID： PMC7857407 DOI： 10.1126/science.abd4570
Source DB: PubMed Journal: Science ISSN： 0036-8075 Impact factor: 47.728