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-...

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Autores: Zhang, Qian|||0000-0002-9040-3289, Bastard, Paul|||0000-0002-5926-8437, Liu, Zhiyong|||0000-0002-6930-5879, Le Pen, Jérémie|||0000-0001-7025-9526, Moncada-Velez, Marcela|||0000-0002-3073-5345, Chen, Jie|||0000-0002-5354-4170, Ogishi, Masato|||0000-0003-2421-7389, Sabli, Ira K. D.|||0000-0002-0170-2990, Hodeib, Stephanie|||0000-0002-5978-6189, Korol, Cecilia|||0000-0002-0023-8823, Rosain, Jérémie|||0000-0002-2822-161X, Bilguvar, Kaya|||0000-0002-7313-7652, Ye, Junqiang, Bolze, Alexandre|||0000-0001-7399-2766, Bigio, Benedetta|||0000-0001-7291-5638, Yang, Rui|||0000-0003-4427-2158, Arias, Andrés Augusto|||0000-0002-9478-8403, Zhou, Qinhua|||0000-0002-5112-3727, Zhang, Yu|||0000-0002-0332-0013, Onodi, Fanny, Korniotis, Sarantis, Karpf, Léa, Philippot, Quentin, Chbihi, Marwa|||0000-0002-2771-851X, Bonnet-Madin, Lucie|||0000-0002-9848-3287, Dorgham, Karim|||0000-0001-9539-3203, Smith, Nikaïa|||0000-0002-0202-612X, Schneider, William M.|||0000-0001-9407-6118, Razooky, Brandon S.|||0000-0002-5263-1512, Hoffmann, Hans-Heinrich|||0000-0003-0554-0244, Michailidis, Eleftherios|||0000-0002-9907-4346, Moens, Leen, Han, Ji Eun|||0000-0003-1112-9320, Lorenzo, Lazaro|||0000-0001-6648-8684, Bizien, Lucy|||0000-0001-9163-9122, Meade, Philip|||0000-0002-6754-7209, Neehus, Anna-Lena|||0000-0002-8573-6820, Ugurbil, Aileen Camille|||0000-0002-9450-3092, Corneau, Aurélien, Kerner, Gaspard|||0000-0003-0146-9428, Zhang, Peng|||0000-0002-6129-567X, Rapaport, Franck|||0000-0001-6553-2110, Seeleuthner, Yoann|||0000-0002-1878-8567, Manry, Jeremy|||0000-0001-5998-2051, Masson, cecile|||0000-0001-7870-7821, Schmitt, Yohann, Schlüter, Agatha|||0000-0001-6732-1528, Le Voyer, Tom|||0000-0002-7253-3135, Khan, Taushif|||0000-0002-7917-8965, Li, Juan|||0000-0002-1617-3294, Fellay, Jacques|||0000-0002-8240-939X, Roussel, Lucie|||0000-0001-5355-702X, Shahrooei, Mohammad, Alosaimi, Mohammed F., Mansouri, Davood, Al-Saud, Haya, Al-Mulla, Fahd|||0000-0001-5409-3829, Almourfi, Feras|||0000-0002-5166-4662, Al-Muhsen, Saleh Zaid, Alsohime, Fahad|||0000-0002-4979-3895, Al Turki, Saeed|||0000-0001-7017-336X, Hasanato, Rana|||0000-0002-4697-2222, van de Beek, Diederik|||0000-0002-4571-044X, Biondi, Andrea, Bettini, Laura Rachele|||0000-0002-0280-1704, D'Angio, Mariella|||0000-0001-7889-8576, Bonfanti, Paolo|||0000-0001-7289-8823, Imberti, Luisa|||0000-0002-2075-8391, Sottini, Alessandra, Paghera, Simone, Quiros-Roldan, Eugenia, Rossi, Camillo, Oler, Andrew J.|||0000-0002-6310-0434, Tompkins, Miranda F.|||0000-0003-2941-7515, Alba, Camille|||0000-0002-0458-1629, Vandernoot, Isabelle, Goffard, Jean-Christope, Smits, Guillaume|||0000-0003-2845-6758, Migeotte, Isabelle, Haerynck, Filomeen|||0000-0001-9161-7361, Soler-Palacín, Pere|||0000-0002-0346-5570, Martín-Nalda, Andrea|||0000-0002-1715-153X, Colobrán Oriol, Roger|||0000-0002-5964-536X, Morange, Pierre-Emmanuel|||0000-0002-9065-722X, Keles, Sevgi|||0000-0001-7344-8947, Ozcelik, Tayfun|||0000-0001-5937-1082, Kadriye, Kart Yaşar|||0000-0003-2963-4894, Senoglu, Sevtap|||0000-0003-4796-9583, Karabela, Şemsi Nur|||0000-0003-2562-3004, Rodríguez-Gallego, Carlos|||0000-0002-4344-8644, Novelli, Giuseppe|||0000-0002-7781-602X, Hraiech, Sami, Tandjaoui-Lambiotte redondo, Yacine|||0000-0003-1123-4788, Duval, Xavier, Laouénan, Cédric|||0000-0002-3681-6314, Foti, Giuseppe, Bellani, Giacomo, Citerio, Giuseppe|||0000-0002-5374-3161, Contro, Ernesto, Pesci, Alberto, Valsecchi, Maria Grazia, Cazzaniga, Marina, Abad Capa, Jorge|||0000-0002-8129-7859, Aguilera-Albesa, Sergio|||0000-0003-3540-1448, 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|||0000-0002-3559-0018, Alyanakian, Marie-Alexandra, Amador Borrero, Blanca|||0000-0001-6170-8721, 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|||0000-0002-7414-7481, Blandinières, Adeline, Blázquez-Gamero, Daniel|||0000-0001-6483-8329, Bloomfield, Marketa, Bolivar-Prados, 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B., Matthews, Gail V., Mayaux, Julien, Mège, Jean-Louis, Melki, Isabelle, Meritet, Jean-François, Meyts, Isabelle|||0000-0003-1214-0302, Mezidi, Mehdi, Millereux, Maude, Mirault, Tristan, Mircher, Clotilde, Mirsaeidi, Mehdi, Montesdeoca Melián, Abián|||0000-0002-9158-2127, Morales Martínez, Antonio, Mordacq, Clémence, Morelle, Guillaume|||0000-0001-6511-1674, Mouly, Stéphane, Muñoz-Barrera, Adrián|||0000-0002-1561-5898, Naesens, Leslie, Nafati, Cyril, Farela Neves, João, FP. Ng, Lisa|||0000-0003-4071-5222, Novoa Medina, Yeray|||0000-0002-9564-0654, Nuñez Cuadros, Esmeralda|||0000-0003-1938-1678, Ocejo-Vinyals, J. 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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.|||0000-0002-4061-0837, Vlaar, Alexander P. J., Wouters, Dorien, Zwinderman, Aeilko Having Koos, Aiuti, Alessandro|||0000-0002-5398-1717, Muhsen, Saleh Al, Anderson, Mark S., Bogunovic, Dusan|||0000-0002-9277-3232, Itan, Yuval, Cirulli, Elizabeth, Barrett, Kelly Schiabor, Washington, Nicole, Bondarenko, Anastasiia, Brodin, Petter|||0000-0002-8103-0046, Bryceson, Yenan, Bustamante, Carlos D.|||0000-0002-4187-7920, Butte, Manish J., Casari, Giorgio|||0000-0002-0115-8980, Chakravorty, Samya|||0000-0002-0236-3281, Christodoulou, John, Le Mestre, S., Condino-Neto, Antonio|||0000-0002-1069-3117, Cooper, Megan A., David, Alessia, DeRisi, Joseph L., Desai, Murkesh, Drolet, Beth A., Espinosa, Sara, Franco, Jose Luis, Gregersen, Peter K.|||0000-0003-1613-1518, Hagin, David|||0000-0003-2702-1031, Heath, Jim, Henrickson, Sarah E., Hsieh, Elena, Imai, Kohsuke, Karamitros, Timokratis, Kisand, Kai|||0000-0002-5426-4648, Ku, Cheng-Lung, Ling, Yun, Lucas, Carrie L., Marodi, Laszlo, Mironska, Kristina, Morio, Tomohiro, Novelli, Antonio, O'Farrelly, Cliona, Okada, Satoshi|||0000-0002-4622-5657, Planas, Anna Maria|||0000-0002-6147-1880, Prando, Carolina|||0000-0002-9570-9770, Quintana-Murci, Lluis|||0000-0003-2429-6320, Renia, Laurent, Renieri, Alessandra|||0000-0002-0846-9220, Sankaran, Vijay, Snow, Andrew|||0000-0002-8728-6691, Tangye, Stuart|||0000-0002-5360-5180, Turvey, Stuart, Uddin, Furkan, Uddin, Mohammed J., Vazquez, Sara E., von Bernuth, Horst, Zawadzki, Pawel, Jing, Huie|||0000-0001-6283-3452, Tung, W., Meguro, K., Shaw, E., Tung, Wesley|||0000-0002-4577-3926, Shafer, S., Zheng, L., Zhang, Z., Kubo, S., Chauvin, S. D., Shaw, Elana|||0000-0001-9265-8026, 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
Tipo de recurso: artículo
Fecha de publicación:2020
País:España
Institución:Universitat Autònoma de Barcelona
Repositorio:Dipòsit Digital de Documents de la UAB
Idioma:inglés
OAI Identifier:oai:ddd.uab.cat:244126
Acceso en línea:https://ddd.uab.cat/record/244126
https://dx.doi.org/urn:doi:10.1126/science.abd4570
Access Level:acceso abierto
Palabra clave:Adolescent
Adult
Aged
Aged, 80 and over
Alleles
Asymptomatic Infections
Betacoronavirus
Child
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
Descripción
Sumario: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.