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

Zhang, Qian ; Bastard, Paul ; Liu, Zhiyong ; Moncada-Velez, Marcela ; Chen, Jie ; Ogishi, Masato ; Hodeib, Stephanie ; Korol, Cecilia ; Rosain, Jérémie ; Bilguvar, Kaya ; Ye, Junqiang ; Bigio, Benedetta ; Zhang, Yu ; Korniotis, Sarantis ; Philippot, Quentin ; Chbihi, Marwa ; Bonnet-Madin, Lucie ; Schneider, William M ; Razooky, Brandon S ; Hoffmann, Hans-Heinrich ; Moens, Leen ; Han, Ji Eun ; Lorenzo, Lazaro ; Bizien, Lucy ; Meade, Philip ; 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 ; Mansouri, Davood ; Al-Saud, Haya ; Al-Mulla, Fahd ; Almourfi, Feras ; Alsohime, Fahad ; Al Turki, Saeed ; Hasanato, Rana ; Biondi, Andrea ; Bettini, Laura Rachele ; Bonfanti, Paolo ; Paghera, Simone ; Oler, Andrew J ; Tompkins, Miranda F ; Alba, Camille ; Goffard, Jean-Christophe ; Smits, Guillaume ; Migeotte, Isabelle ; Haerynck, Filomeen ; Soler-Palacin, Pere ; Martin-Nalda, Andrea ; Colobran, Roger ; Çölkesen, Fatma ; Ozcelik, Tayfun ; Yasar, Kadriye Kart ; Senoglu, Sevtap ; Rodríguez-Gallego, Carlos ; Novelli, Giuseppe ; Hraiech, Sami ; Duval, Xavier ; Laouénan, Cédric ; Snow, Andrew L ; Dalgard, Clifton L ; Milner, Joshua D ; Vinh, Donald C ; Mogensen, Trine H ; Spaan, András N ; Boisson, Bertrand ; Boisson-Dupuis, Stéphanie ; 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 ; Rice, Charles M ; Abel, Laurent ; Notarangelo, Luigi D ; Cobat, Aurélie ; Su, Helen C ; Casanova, Jean-Laurent

Science (American Association for the Advancement of Science), 2020-10, Vol.370 (6515) [Periódico revisado por pares]

United States: American Association for the Advancement of Science (AAAS)

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Título:
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
Autor: Zhang, Qian ; Bastard, Paul ; Liu, Zhiyong ; Moncada-Velez, Marcela ; Chen, Jie ; Ogishi, Masato ; Hodeib, Stephanie ; Korol, Cecilia ; Rosain, Jérémie ; Bilguvar, Kaya ; Ye, Junqiang ; Bigio, Benedetta ; Zhang, Yu ; Korniotis, Sarantis ; Philippot, Quentin ; Chbihi, Marwa ; Bonnet-Madin, Lucie ; Schneider, William M ; Razooky, Brandon S ; Hoffmann, Hans-Heinrich ; Moens, Leen ; Han, Ji Eun ; Lorenzo, Lazaro ; Bizien, Lucy ; Meade, Philip ; 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 ; Mansouri, Davood ; Al-Saud, Haya ; Al-Mulla, Fahd ; Almourfi, Feras ; Alsohime, Fahad ; Al Turki, Saeed ; Hasanato, Rana ; Biondi, Andrea ; Bettini, Laura Rachele ; Bonfanti, Paolo ; Paghera, Simone ; Oler, Andrew J ; Tompkins, Miranda F ; Alba, Camille ; Goffard, Jean-Christophe ; Smits, Guillaume ; Migeotte, Isabelle ; Haerynck, Filomeen ; Soler-Palacin, Pere ; Martin-Nalda, Andrea ; Colobran, Roger ; Çölkesen, Fatma ; Ozcelik, Tayfun ; Yasar, Kadriye Kart ; Senoglu, Sevtap ; Rodríguez-Gallego, Carlos ; Novelli, Giuseppe ; Hraiech, Sami ; Duval, Xavier ; Laouénan, Cédric ; Snow, Andrew L ; Dalgard, Clifton L ; Milner, Joshua D ; Vinh, Donald C ; Mogensen, Trine H ; Spaan, András N ; Boisson, Bertrand ; Boisson-Dupuis, Stéphanie ; 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 ; Rice, Charles M ; Abel, Laurent ; Notarangelo, Luigi D ; Cobat, Aurélie ; Su, Helen C ; Casanova, Jean-Laurent
Assuntos: Adolescent ; Adult ; Aged ; Aged, 80 and over ; Alleles ; Asymptomatic Infections ; Betacoronavirus ; Child ; Child, Preschool ; Coronavirus Infections - genetics ; Coronavirus Infections - immunology ; COVID-19 ; Female ; Genetic Loci ; Genetic Predisposition to Disease ; Genetics ; Human health and pathology ; Humans ; Immunology ; Infant ; Infectious diseases ; Interferon Regulatory Factor-7 - deficiency ; Interferon Regulatory Factor-7 - genetics ; Interferon Type I - immunology ; Life Sciences ; Loss of Function Mutation ; Male ; Medicin och hälsovetenskap ; Middle Aged ; Online ; Pandemics ; Pneumonia, Viral - genetics ; Pneumonia, Viral - immunology ; Receptor, Interferon alpha-beta - deficiency ; Receptor, Interferon alpha-beta - genetics ; SARS-CoV-2 ; Toll-Like Receptor 3 - deficiency ; Toll-Like Receptor 3 - genetics ; Young Adult
É parte de: Science (American Association for the Advancement of Science), 2020-10, Vol.370 (6515)
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
These authors contributed equally to this work.
All collaborators and their affiliations appear at the end of this paper.
Descrição: 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.
Editor: United States: American Association for the Advancement of Science (AAAS)
Idioma: Inglês

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

United States: American Association for the Advancement of Science (AAAS)

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