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https://hdl.handle.net/10495/40727| Título : | Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 |
| Autor : | Arias Sierra, Andrés Augusto Moncada Vélez, Marcela Zhang, Qian Bastard, Paul Liu, Zhiyong Le Pen, Jérémie Chen, Jie Ogishi, Masato Sabli, Ira K D Hodeib, Stephanie Korol, Cecilia Vandernoot, Isabelle Goffard, Jean Christophe Smits, Guillaume Migeotte, Isabelle Haerynck, Filomeen Soler Palacin, Pere Martin Nalda, Andrea Colobran, Roger Morange, Pierre Emmanuel Keles, Sevgi Puel, Anne Çölkesen, Fatma Ozcelik, Tayfun Kart Yasar, Kadriye Senoglu, Sevtap Karabela, Şemsi Nur Rodríguez Gallego, Carlos Novelli, Giuseppe Hraiech, Sami Tandjaoui-Lambiotte, Yacine Duval, Xavier Ciancanelli, Michael J. Laouénan, Cédric Spaan, András N. Boisson, Bertrand Boisson-Dupuis, Stéphanie Bustamante, Jacinta Maniatis, Tom Soumelis, Vassili Amara, Ali Nussenzweig, Michel Notarangelo, Luigi D. Su, Helen C. Cobat, Aurélie Gorochov, Guy Rosain, Jérémie Béziat, Vivien Jouanguy, Emmanuelle Meyts, Isabelle García-Sastre, Adolfo Krammer, Florian Pujol, Aurora Duffy, Darragh Marr, Nico Lifton, Richard P Zhang, Shen-Ying Bilguvar, Kaya Rice, Charles M. Abel, Laurent Béziat, Vivien Sancho Shimizu, Vanessa Casanova, Jean Laurent Ye, Junqiang Bolze, Alexandre Bigio, Benedetta Yang, Rui 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, Mohammad 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 |
| metadata.dc.subject.*: | Alleles Alelos Asymptomatic Infections Infecciones Asintomáticas Betacoronavirus COVID-19 Coronavirus Infections Infecciones por Coronavirus Genetic Loci Sitios Genéticos Genetic Predisposition to Disease Predisposición Genética a la Enfermedad Interferon Regulatory Factor-7 Factor 7 Regulador del Interferón Loss of Function Mutation Mutación con Pérdida de Función Pneumonia, Viral Neumonía Viral Receptor, Interferon alpha-beta Receptor de Interferón alfa y beta SARS-CoV-2 SARS-CoV-2 Toll-Like Receptor 3 Receptor Toll-Like 3 https://id.nlm.nih.gov/mesh/D000483 https://id.nlm.nih.gov/mesh/D058345 https://id.nlm.nih.gov/mesh/D000073640 https://id.nlm.nih.gov/mesh/D000086382 https://id.nlm.nih.gov/mesh/D018352 https://id.nlm.nih.gov/mesh/D056426 https://id.nlm.nih.gov/mesh/D020022 https://id.nlm.nih.gov/mesh/D050839 https://id.nlm.nih.gov/mesh/D000073658 https://id.nlm.nih.gov/mesh/D011024 https://id.nlm.nih.gov/mesh/D053633 https://id.nlm.nih.gov/mesh/D000086402 https://id.nlm.nih.gov/mesh/D051196 |
| Fecha de publicación : | 2020 |
| Editorial : | American Association for the Advancement of Science |
| Resumen : | 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. |
| metadata.dc.identifier.eissn: | 1095-9203 |
| ISSN : | 0036-8075 |
| metadata.dc.identifier.doi: | 10.1126/science.abd4570 |
| Aparece en las colecciones: | Artículos de Revista en Ciencias Médicas |
Ficheros en este ítem:
| Fichero | Descripción | Tamaño | Formato | |
|---|---|---|---|---|
| AriasAndres_2020_Inborn_Errors_IFN.pdf | Artículo de investigación | 1.42 MB | Adobe PDF | Visualizar/Abrir |
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