| Title: |
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 |
| Authors: |
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-Christope; Smits, Guillaume; Migeotte, Isabelle; Haerynck, Filomeen; Soler-Palacín, Pere; Martín-Nalda, Andrea; Colobrán Oriol, Roger; Morange, Pierre-Emmanuel; Keles, Sevgi; Ozcelik, Tayfun; Kadriye, Kart Yaşar; Senoglu, Sevtap; Karabela, Şemsi Nur; Rodríguez-Gallego, Carlos; Novelli, Giuseppe; Hraiech, Sami; Tandjaoui-Lambiotte redondo, Yacine; Duval, Xavier; Laouénan, Cédric; Foti, Giuseppe; Bellani, Giacomo; Citerio, Giuseppe; Contro, Ernesto; Pesci, Alberto; Valsecchi, Maria Grazia; Cazzaniga, Marina; Abad Capa, Jorge; Aguilera-Albesa, Sergio; Akcan, Ozge Metin; Darazam, Ilad Alavi; Aldave, Juan C.; Ramos, Miquel Alfonso; Nadji, Seyed Alireza; Alkan, Gulsum; Allardet-Servent, Jerome; Allende-Martinez, Luis M.; Alsina Manrique, Laia; Alyanakian, Marie-Alexandra; Amador Borrero, Blanca; Amoura, Zahir; Antolí, Arnau; Arslan, Sevket; Assant, Sophie; Auguet, Teresa; Azot, Axelle; Bajolle, Fanny; Baldolli, Aurélie; Ballester, Maite; Feldman, Hagit Baris; Barrou, Benoit; Beurton, Alexandra; Bilbao, Agurtzane; Blanchard-Rohner, Geraldine; Blanco Guillermo, Ignacio; Blandinières, Adeline; Blázquez-Gamero, Daniel; Bloomfield, Marketa; Bolivar-Prados, Mireia; Borie, Raphael; Bosteels, Cédric; Bousfiha, Ahmed A.; Bouvattier, Claire; Boyarchuk, Oksana; Bueno, Maria Rita P.; Cáceres Agra, Juan José; Calimli, Semra; Capra, Ruggero; Carrabba, Maria; Casasnovas, Carlos; Caseris, Marion; Castelle, Martin; Castelli, Francesco; Castillo de Vera, Martín; Castro, Mateus V.; Catherinot, Emilie; Chalumeau, Martin; Charbit, Bruno; Cheng, Matthew P.; Clavé i Civit, Pere; Clotet Sala, Bonaventura; Codina, Anna; Colkesen, Fatih; Çölkesen, Fatma; Comarmond, Cloé; Dalmau, David; Darley, David Ross; Dauby, Nicolas; Dauger, Stéphane; de Pontual, Loic; Dehban, Amin; Delplancq, Geoffroy; Demoule, Alexandre; Diehl, Jean-Luc; Dobbelaere, Stephanie; Durand, Sophie; Eldars, Waleed; Elgamal, Mohamed; Elnagdy, Marwa H.; Emiroglu, Melike; Erdeniz, Emine Hafize; Erol Aytekin, Selma; Euvrard, Romain; Evcen, Recep; Fabio, Giovanna; Faivre, Laurence; Falck, Antonin; Fartoukh, Muriel; Faure, Morgane; Fernández Arquero, Miguel; Flores, Carlos; Francois, Bruno; Fumadó, Victoria; Fusco, Francesca; García Solis, Blanca; Gaussem, Pascale; Gil-Herrera, Juana; Gilardin, Laurent; Girona-Alarcón, Mònica; Gok, Funda; González Montelongo, Rafaela; Guerder, Antoine; Gul, Yahya; Guner, Sukru Nail; Gut, Marta; Hadjadj, Jérôme; Halwani, Rabih; Hammarström, Lennart; Nevin, Hatipoglu; Hernandez-Brito, Elisa; Heijmans, Cathérine; Holanda-Peña, María Soledad; Horcajada, Juan Pablo; Hoste, Levi; Hoste, Eric; Humbert, Linda; Iglesias, Alejandro D.; Íñigo-Campos, Antonio; Jamme, Matthieu; Arranz, María Jesús; Jordán García, Iolanda; Jorens, Philippe; Kanat, Fikret; Kapakli, Hasan; Kara, Iskender; Karbuz, Adem; Kendir Demirkol, Yasemin; Klocperk, Adam; Król, Zbigniew J.; Kuentz, Paul; Kwan, Mike Yat Wah; Lagier, Jean-Christophe; Lambrecht, Bart N.; Lau, Yu Lung; Le Bourgeois, Fleur; Leo, Yee-Sin; Leon Lopez, Rafael; Leung, Daniel; Levin, Michael; Levy, Michael; Lévy, Romain; Li, Zhi; Linglart, Agnès; Loeys, Bart; Lorenzo-Salazar, José Miguel; Louapre, Céline; Lubetzki, Catherine; Luyt, Charles-Edouard; Lye, David C.; Marjani, Majid; Marquez Pereira, Jesús; Martínez Pueyo, David; Martínez Picado, Francisco Javier; Marzana, Iciar; Mathian, Alexis; Matos, Larissa R. B.; Matthews, Gail V.; Mayaux, Julien; Mège, Jean-Louis; Melki, Isabelle; Meritet, Jean-François; Meyts, Isabelle; Mezidi, Mehdi; Millereux, Maude; Mirault, Tristan; Mircher, Clotilde; Mirsaeidi, Mehdi; Montesdeoca Melián, Abián; Morales Martínez, Antonio; Mordacq, Clémence; Morelle, Guillaume; Mouly, Stéphane; Muñoz-Barrera, Adrián; Naesens, Leslie; Nafati, Cyril; Farela Neves, João; FP. Ng, Lisa; Novoa Medina, Yeray; Nuñez Cuadros, Esmeralda; Ocejo-Vinyals, J. Gonzalo; Orbak, Zerrin; Oualha, Mehdi; Pan-Hammarström, Qiang; Parizot, Christophe; Pascreau, Tiffany; Paz-Artal, Estela; Pellegrini, Sandra; Perez de Diego, Rebeca; Philippe, Aurélien; Planas-Serra, Laura; Ploin, Dominique; Poissy, Julien; Poncelet, Géraldine; Pouletty, Marie; Quentric, Paul; Raoult, Didier; Rebillat, Anne-Sophie; Reisli, Ismail; Ricart, Pilar; Richard, Jean-Christophe; Rivet, Nadia; Rivière, Jacques G.; Rocamora Blanch, Gemma; Rodrigo Gonzalo de Líria, Carlos; Rodríguez-Palmero, Agustí; Romero, Carolina Soledad; Rothenbuhler, Anya; Rozenberg, Flore; Ruiz del Prado, María Yolanda; Sabater-Riera, Joan; Sánchez, Oliver; Sánchez-Ramón, Silvia; Schmidt, Matthieu; Schweitzer, Cyril E.; Scolari, Francesco; Sediva, Anna; Seijo, Luis M.; Sene, Damien; Seppänen, Mikko R. J.; Serra Ilovich, Alex; Shahrooei, Mohammed; Slabbynck, Hans; Smadja, David M.; Sobh, Ali; Solanich, Xavier; Dalgard, Clifton L.; Milner, Joshua D.; Vinh, Donald C.; Mogensen, Trine Hyrup; Marr, Nico; Spaan, András; Boisson, Bertrand; Boisson-Dupuis, Stephanie; Bustamante, Jacinta; Puel, Anne; Ciancanelli, Michael J.; 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; Béziat, Vivien; Jouanguy, Emmanuelle; Sancho Shimizu, Vanessa; Rice, Charles M.; Abel, Laurent; Notarangelo, Luigi; Cobat, Aurélie; Su, Helen C.; Casanova, Jean-Laurent; Zhang, S. Y.; Blanch, G. R.; Riera, J. S.; Ballester Devis, Maria; van Braeckel, E.; Vincent, Amy; Zatz, Mayana; Vélez-Santamaria, V.; Toubiana, J.; Vilaire, M. E.; Ursini, Matilde Valeria; de Diego, R. P.; van Den Rym, A. M.; Yosunkaya, A.; Thy, M.; van Agtmael, Michiel; Bomers, Marije; Chouchane, Osoul; Geerlings, Suzanne; Goorhuis, Bram; Grobusch, Martin P.; Harris, Vanessa; Hermans, Sabine M.; Hovius, Joppe W.; Nellen, Jeaninne; Peters, Edgar; van der Poll, Tom; Prins, Jan M.; Reijnders, Tom; Schinkel, Michiel; Sigaloff, Kim; Stijnis, Cornelis S.; van der Valk, Marc; van Vugt, Michèle; Joost Wiersinga, W.; Algera, Anna Geke; van Baarle, Frank; Bos, Lieuwe D.; Botta, Michela; de Bruin, Sanne; Bulle, Esther; Elbers, Paul; Fleuren, Lucas; Girbes, Armand; Hagens, Laura; Heunks, Leo; Horn, Janneke; van Mourik, Niels; Paulus, Frederique; Raasveld, Jorinde; Schultz, Marcus J.; Smit, Marry; Stilma, Willemke; Thoral, Patrick; Tsonas, Anissa M.; de Vries, Heder; Bax, Diane; Cloherty, Alex; Beudel, Martijn; Brouwer, Matthijs C.; Koning, Rutger; Bogaard, H. J.; de Brabander, J.; de Bree, G.; Bugiani, Marianna; Geerts, Bart; Hollmann, Markus W.; Preckel, Benedikt; Veelo, Denise; Geijtenbeek, Theo; Hafkamp, Florianne; Hamann, Jorg; Hemke, Robert; de Jong, Menno D.; Schuurman, Alex; Teunissen, Charlotte E.; Vlaar, Alexander P. J.; Wouters, Dorien; Zwinderman, Aeilko Having Koos; Aiuti, Alessandro; Muhsen, Saleh Al; Anderson, Mark S.; Bogunovic, Dusan; Itan, Yuval; Cirulli, Elizabeth; Barrett, Kelly Schiabor; Washington, Nicole; Bondarenko, Anastasiia; Brodin, Petter; Bryceson, Yenan; Bustamante, Carlos D.; Butte, Manish J.; Casari, Giorgio; Chakravorty, Samya; Christodoulou, John; Le Mestre, S.; Condino-Neto, Antonio; Cooper, Megan A.; David, Alessia; DeRisi, Joseph L.; Desai, Murkesh; Drolet, Beth A.; Espinosa, Sara; Franco, Jose Luis; Gregersen, Peter K.; Hagin, David; Heath, Jim; Henrickson, Sarah E.; Hsieh, Elena; Imai, Kohsuke; Karamitros, Timokratis; Kisand, Kai; Ku, Cheng-Lung; Ling, Yun; Lucas, Carrie L.; Marodi, Laszlo; Mironska, Kristina; Morio, Tomohiro; Novelli, Antonio; O'Farrelly, Cliona; Okada, Satoshi; Planas, Anna Maria; Prando, Carolina; Quintana-Murci, Lluis; Renia, Laurent; Renieri, Alessandra; Sankaran, Vijay; Snow, Andrew; Tangye, Stuart; Turvey, Stuart; Uddin, Furkan; Uddin, Mohammed J.; Vazquez, Sara E.; von Bernuth, Horst; Zawadzki, Pawel; Jing, Huie; Tung, W.; Meguro, K.; Shaw, E.; Tung, Wesley; Shafer, S.; Zheng, L.; Zhang, Z.; Kubo, S.; Chauvin, S. D.; Shaw, Elana; Lenardo, M.; Luthers, Christopher R.; Bauman, Bradly M.; Shafer, Samantha; Zheng, Lixin; Zhang, Zinan; Kubo, Satoshi; Chauvin, Samuel D.; Lenardo, Michael; Lack, Justin; Karlins, Eric; Hupalo, Daniel M.; Rosenberger, John; Sukumar, Gauthaman; Wilkerson, Matthew D.; Zhang, Xijun; Universitat Autònoma de Barcelona |
| Publication Year: |
2020 |
| Collection: |
Universitat Autònoma de Barcelona: Dipòsit Digital de Documents de la UAB |
| Subject Terms: |
Adolescent; Adult; Aged; 80 and over; Alleles; Asymptomatic Infections; Betacoronavirus; Child; Preschool; Coronavirus Infections; Female; Genetic Loci; Genetic Predisposition to Disease; Humans; Infant; Interferon Regulatory Factor-7; Interferon Type I; Loss of Function Mutation; Male; Middle Aged; Pandemics; Pneumonia; Viral; Receptor; Interferon alpha-beta; Toll-Like Receptor 3; Young Adult |
| 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. |
| Document Type: |
article in journal/newspaper |
| File Description: |
application/pdf |
| Language: |
English |
| ISSN: |
10959203 |
| Relation: |
European Commission 84110; Ministerio de Ciencia e Innovación TC-2017-6471-1; Instituto de Salud Carlos III COV20_01333; Instituto de Salud Carlos III COV20_01334; Science; Vol. 370 Núm. 6515 (23 2020), p. eabd4570; https://ddd.uab.cat/record/244126; urn:10.1126/science.abd4570; urn:oai:ddd.uab.cat:244126; urn:scopus_id:85094120212; urn:articleid:10959203v370n6515aeabd4570; urn:pmid:32972995; urn:pmcid:PMC7857407; urn:oai:pubmedcentral.nih.gov:7857407 |
| Availability: |
https://ddd.uab.cat/record/244126 |
| Rights: |
open access ; Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original. ; https://creativecommons.org/licenses/by/4.0/ |
| Accession Number: |
edsbas.60C145EE |
| Database: |
BASE |