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DOI 10.1126/science.abd4570

Медицинская библиотека · Science (New York, N.Y.) · 2020

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.

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, Rodríguez-Gallego Carlos, Novelli Giuseppe, Hraiech Sami, Tandjaoui-Lambiotte Yacine, Duval Xavier, Laouénan Cédric, COVID-STORM Clinicians, COVID Clinicians, Imagine COVID Group, French COVID Cohort Study Group, CoV-Contact Cohort, Amsterdam UMC Covid-19 Biobank, COVID Human Genetic Effort, NIAID-USUHS/TAGC COVID Immunity Group, Snow Andrew L, Dalgard Clifton L, Milner Joshua D, Vinh Donald C, Mogensen Trine H, Marr Nico, Spaan András N, Boisson Bertrand, Boisson-Dupuis Stéphanie, Bustamante Jacinta, Puel Anne, Ciancanelli Michael J, Meyts Isabelle, Maniatis Tom, Soumelis Vassili, Amara Ali, Nussenzweig Michel, García-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 D, Cobat Aurélie, Su Helen C, Casanova Jean-Laurent

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Аннотация

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.

Для цитирования: 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, Rodríguez-Gallego Carlos, Novelli Giuseppe, Hraiech Sami, Tandjaoui-Lambiotte Yacine, Duval Xavier, Laouénan Cédric, COVID-STORM Clinicians, COVID Clinicians, Imagine COVID Group, French COVID Cohort Study Group, CoV-Contact Cohort, Amsterdam UMC Covid-19 Biobank, COVID Human Genetic Effort, NIAID-USUHS/TAGC COVID Immunity Group, Snow Andrew L, Dalgard Clifton L, Milner Joshua D, Vinh Donald C, Mogensen Trine H, Marr Nico, Spaan András N, Boisson Bertrand, Boisson-Dupuis Stéphanie, Bustamante Jacinta, Puel Anne, Ciancanelli Michael J, Meyts Isabelle, Maniatis Tom, Soumelis Vassili, Amara Ali, Nussenzweig Michel, García-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 D, Cobat Aurélie, Su Helen C, Casanova Jean-Laurent. Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.. Science (New York, N.Y.). 2020. DOI: 10.1126/science.abd4570.

Предметные рубрики MeSH

AdolescentAdultAgedAged, 80 and overAllelesAsymptomatic InfectionsBetacoronavirusCOVID-19ChildChild, PreschoolCoronavirus InfectionsFemaleGenetic LociGenetic Predisposition to DiseaseHumansInfantInterferon Regulatory Factor-7Interferon Type ILoss of Function MutationMaleMiddle AgedPandemicsPneumonia, ViralReceptor, Interferon alpha-betaSARS-CoV-2Toll-Like Receptor 3Young Adult
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