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 |
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| 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-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; Gallego, Carlos Rodríguez; Novelli, Giuseppe; Hraiech, Sami; Tandjaoui-Lambiotte, Yacine; Duval, Xavier; Laouénan, Cédric; Snow, Andrew L; Dalgard, Clifton L; Milner, Joshua; Vinh, Donald C; Mogensen, Trine H; Marr, Nico; Spaan, András N; Boisson, Bertrand; Boisson-Dupuis, Stéphanie; Bustamante, Jacinta; Puel, Anne; Ciancanelli, Michael; Meyts, Isabelle; Maniatis, Tom; Soumelis, Vassili; Amara, Ali; Nussenzweig, Michel; García-Sastre, Adolfo; Krammer, Florian; Pujol, Aurora; Duffy, Darragh; Lifton, Richard; 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; Pesci, Alberto |
| Contributors: | Zhang, Q; Bastard, P; Liu, Z; Le Pen, J; Moncada-Velez, M; Chen, J; Ogishi, M; Sabli, I; Hodeib, S; Korol, C; Rosain, J; Bilguvar, K; Ye, J; Bolze, A; Bigio, B; Yang, R; Arias, A; Zhou, Q; Zhang, Y; Onodi, F; Korniotis, S; Karpf, L; Philippot, Q; Chbihi, M; Bonnet-Madin, L; Dorgham, K; Smith, N; Schneider, W; Razooky, B; Hoffmann, H; Michailidis, E; Moens, L; Han, J; Lorenzo, L; Bizien, L; Meade, P; Neehus, A; Ugurbil, A; Corneau, A; Kerner, G; Zhang, P; Rapaport, F; Seeleuthner, Y; Manry, J; Masson, C; Schmitt, Y; Schlüter, A; Le Voyer, T; Khan, T; Li, J; Fellay, J; Roussel, L; Shahrooei, M; Alosaimi, M; Mansouri, D; Al-Saud, H; Al-Mulla, F; Almourfi, F; Al-Muhsen, S; Alsohime, F; Al Turki, S; Hasanato, R; van de Beek, D; Biondi, A; Bettini, L; D'Angio, M; Bonfanti, P; Imberti, L; Sottini, A; Paghera, S; Quiros-Roldan, E; Rossi, C; Oler, A; Tompkins, M; Alba, C; Vandernoot, I; Goffard, J; Smits, G; Migeotte, I; Haerynck, F; Soler-Palacin, P; Martin-Nalda, A; Colobran, R; Morange, P; Keles, S; Çölkesen, F; Ozcelik, T; Yasar, K; Senoglu, S; Karabela, Ş; Gallego, C; Novelli, G; Hraiech, S; Tandjaoui-Lambiotte, Y; Duval, X; Laouénan, C; Snow, A; Dalgard, C; Milner, J; Vinh, D |
| Publisher Information: | 1200; US |
| Publication Year: | 2020 |
| Collection: | Università degli Studi di Milano-Bicocca: BOA (Bicocca Open Archive) |
| Subject Terms: | COVID19 |
| Description: | 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. |
| Document Type: | article in journal/newspaper |
| File Description: | ELETTRONICO |
| Language: | English |
| Relation: | info:eu-repo/semantics/altIdentifier/pmid/32972995; info:eu-repo/semantics/altIdentifier/wos/WOS:000581077200034; volume:370; issue:6515; journal:SCIENCE; https://hdl.handle.net/10281/285978 |
| DOI: | 10.1126/science.abd4570 |
| Availability: | https://hdl.handle.net/10281/285978; https://doi.org/10.1126/science.abd4570 |
| Rights: | info:eu-repo/semantics/openAccess ; license:Creative Commons ; license uri:http://creativecommons.org/licenses/by/4.0/ |
| Accession Number: | edsbas.4CF7AD7D |
| Database: | BASE |