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  1. Article: Human TBK1 deficiency leads to autoinflammation driven by TNF-induced cell death

    Taft, Justin / Markson, Michael / Legarda, Diana / Patel, Roosheel / Chan, Mark / Malle, Louise / Richardson, Ashley / Gruber, Conor / Martín-Fernández, Marta / Mancini, Grazia M.S. / van Laar, Jan A.M. / van Pelt, Philomine / Buta, Sofija / Wokke, Beatrijs H.A. / Sabli, Ira K.D. / Sancho-Shimizu, Vanessa / Chavan, Pallavi Pimpale / Schnappauf, Oskar / Khubchandani, Raju /
    Cüceoğlu, Müşerref Kasap / Özen, Seza / Kastner, Daniel L. / Ting, Adrian T. / Aksentijevich, Ivona / Hollink, Iris H.I. M. / Bogunovic, Dusan

    Elsevier Inc. Cell. 2021 Aug. 19, v. 184, no. 17

    2021  

    Abstract: TANK binding kinase 1 (TBK1) regulates IFN-I, NF-κB, and TNF-induced RIPK1-dependent cell death (RCD). In mice, biallelic loss of TBK1 is embryonically lethal. We discovered four humans, ages 32, 26, 7, and 8 from three unrelated consanguineous families ... ...

    Abstract TANK binding kinase 1 (TBK1) regulates IFN-I, NF-κB, and TNF-induced RIPK1-dependent cell death (RCD). In mice, biallelic loss of TBK1 is embryonically lethal. We discovered four humans, ages 32, 26, 7, and 8 from three unrelated consanguineous families with homozygous loss-of-function mutations in TBK1. All four patients suffer from chronic and systemic autoinflammation, but not severe viral infections. We demonstrate that TBK1 loss results in hypomorphic but sufficient IFN-I induction via RIG-I/MDA5, while the system retains near intact IL-6 induction through NF-κB. Autoinflammation is driven by TNF-induced RCD as patient-derived fibroblasts experienced higher rates of necroptosis in vitro, and CC3 was elevated in peripheral blood ex vivo. Treatment with anti-TNF dampened the baseline circulating inflammatory profile and ameliorated the clinical condition in vivo. These findings highlight the plasticity of the IFN-I response and underscore a cardinal role for TBK1 in the regulation of RCD.
    Keywords blood ; fibroblasts ; homozygosity ; humans ; interleukin-6 ; loss-of-function mutation ; necroptosis ; plasticity
    Language English
    Dates of publication 2021-0819
    Size p. 4447-4463.e20.
    Publishing place Elsevier Inc.
    Document type Article
    ZDB-ID 187009-9
    ISSN 1097-4172 ; 0092-8674
    ISSN (online) 1097-4172
    ISSN 0092-8674
    DOI 10.1016/j.cell.2021.07.026
    Database NAL-Catalogue (AGRICOLA)

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  2. Article ; Online: Human TBK1 deficiency leads to autoinflammation driven by TNF-induced cell death.

    Taft, Justin / Markson, Michael / Legarda, Diana / Patel, Roosheel / Chan, Mark / Malle, Louise / Richardson, Ashley / Gruber, Conor / Martín-Fernández, Marta / Mancini, Grazia M S / van Laar, Jan A M / van Pelt, Philomine / Buta, Sofija / Wokke, Beatrijs H A / Sabli, Ira K D / Sancho-Shimizu, Vanessa / Chavan, Pallavi Pimpale / Schnappauf, Oskar / Khubchandani, Raju /
    Cüceoğlu, Müşerref Kasap / Özen, Seza / Kastner, Daniel L / Ting, Adrian T / Aksentijevich, Ivona / Hollink, Iris H I M / Bogunovic, Dusan

    Cell

    2021  Volume 184, Issue 17, Page(s) 4447–4463.e20

    Abstract: TANK binding kinase 1 (TBK1) regulates IFN-I, NF-κB, and TNF-induced RIPK1-dependent cell death (RCD). In mice, biallelic loss of TBK1 is embryonically lethal. We discovered four humans, ages 32, 26, 7, and 8 from three unrelated consanguineous families ... ...

    Abstract TANK binding kinase 1 (TBK1) regulates IFN-I, NF-κB, and TNF-induced RIPK1-dependent cell death (RCD). In mice, biallelic loss of TBK1 is embryonically lethal. We discovered four humans, ages 32, 26, 7, and 8 from three unrelated consanguineous families with homozygous loss-of-function mutations in TBK1. All four patients suffer from chronic and systemic autoinflammation, but not severe viral infections. We demonstrate that TBK1 loss results in hypomorphic but sufficient IFN-I induction via RIG-I/MDA5, while the system retains near intact IL-6 induction through NF-κB. Autoinflammation is driven by TNF-induced RCD as patient-derived fibroblasts experienced higher rates of necroptosis in vitro, and CC3 was elevated in peripheral blood ex vivo. Treatment with anti-TNF dampened the baseline circulating inflammatory profile and ameliorated the clinical condition in vivo. These findings highlight the plasticity of the IFN-I response and underscore a cardinal role for TBK1 in the regulation of RCD.
    MeSH term(s) A549 Cells ; Adaptor Proteins, Signal Transducing/metabolism ; Apoptosis ; Autoimmunity/drug effects ; Brain/diagnostic imaging ; Cell Death/drug effects ; Cytokines/metabolism ; Deubiquitinating Enzyme CYLD/metabolism ; Female ; HEK293 Cells ; Homozygote ; Humans ; I-kappa B Kinase/metabolism ; Immunophenotyping ; Inflammation/enzymology ; Inflammation/pathology ; Interferon Type I/metabolism ; Interferon-gamma/metabolism ; Loss of Function Mutation/genetics ; Male ; Pedigree ; Phosphorylation/drug effects ; Protein Serine-Threonine Kinases/deficiency ; Protein Serine-Threonine Kinases/genetics ; Protein Serine-Threonine Kinases/metabolism ; Receptor-Interacting Protein Serine-Threonine Kinases/metabolism ; Receptors, Pattern Recognition/metabolism ; Toll-Like Receptor 3/metabolism ; Transcriptome/genetics ; Tumor Necrosis Factor-alpha/pharmacology ; Vesiculovirus/drug effects ; Vesiculovirus/physiology
    Chemical Substances Adaptor Proteins, Signal Transducing ; Cytokines ; Interferon Type I ; MAVS protein, human ; Receptors, Pattern Recognition ; Toll-Like Receptor 3 ; Tumor Necrosis Factor-alpha ; Interferon-gamma (82115-62-6) ; Protein Serine-Threonine Kinases (EC 2.7.11.1) ; RIPK1 protein, human (EC 2.7.11.1) ; Receptor-Interacting Protein Serine-Threonine Kinases (EC 2.7.11.1) ; TBK1 protein, human (EC 2.7.11.1) ; I-kappa B Kinase (EC 2.7.11.10) ; CYLD protein, human (EC 3.4.19.12) ; Deubiquitinating Enzyme CYLD (EC 3.4.19.12)
    Language English
    Publishing date 2021-08-06
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, N.I.H., Intramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 187009-9
    ISSN 1097-4172 ; 0092-8674
    ISSN (online) 1097-4172
    ISSN 0092-8674
    DOI 10.1016/j.cell.2021.07.026
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 1167: Show issues Location:
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  3. Article ; Online: 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 / Li, Juan / Mogensen, Trine H. / Casanova, Jean Laurent

    Zhang , Q , Bastard , P , Liu , Z , Le Pen , J , Moncada-Velez , M , Chen , J , Ogishi , M , Sabli , I K D , Hodeib , S , Korol , C , Rosain , J , Bilguvar , K , Ye , J , Bolze , A , Bigio , B , Yang , R , Arias , A A , Zhou , Q , Zhang , Y , Onodi , F , Korniotis , S , Karpf , L , Philippot , Q , Chbihi , M , Bonnet-Madin , L , Dorgham , K , Smith , N , Schneider , W M , Razooky , B S , Hoffmann , H H , Michailidis , E , Moens , L , Han , J E , Lorenzo , L , Bizien , L , Meade , P , Neehus , A L , Ugurbil , A C , Corneau , A , Kerner , G , Zhang , P , Rapaport , F , Seeleuthner , Y , Manry , J , Masson , C , Schmitt , Y , Schlüter , A , Li , J , Mogensen , T H , Casanova , J L , 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 2020 , ' Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 ' , Science , vol. 370 , no. 6515 . https://doi.org/10.1126/science.abd4570

    2020  

    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 ( ... ...

    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.
    Keywords covid19
    Subject code 616
    Language English
    Publishing country dk
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  4. Article ; Online: 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 / 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

    Science (New York, N.Y.)

    2020  Volume 370, Issue 6515

    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 ( ... ...

    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.
    MeSH term(s) Adolescent ; Adult ; Aged ; Aged, 80 and over ; Alleles ; Asymptomatic Infections ; Betacoronavirus ; COVID-19 ; Child ; Child, Preschool ; Coronavirus Infections/genetics ; Coronavirus Infections/immunology ; Female ; Genetic Loci ; Genetic Predisposition to Disease ; Humans ; Infant ; Interferon Regulatory Factor-7/deficiency ; Interferon Regulatory Factor-7/genetics ; Interferon Type I/immunology ; Loss of Function Mutation ; Male ; Middle Aged ; 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
    Chemical Substances IFNAR1 protein, human ; IRF7 protein, human ; Interferon Regulatory Factor-7 ; Interferon Type I ; TLR3 protein, human ; Toll-Like Receptor 3 ; Receptor, Interferon alpha-beta (156986-95-7)
    Keywords covid19
    Language English
    Publishing date 2020-09-24
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 128410-1
    ISSN 1095-9203 ; 0036-8075
    ISSN (online) 1095-9203
    ISSN 0036-8075
    DOI 10.1126/science.abd4570
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 27: Show issues Location:
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  5. Article ; Online: 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 / 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

    2020  

    Abstract: 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 ... ...

    Abstract 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.
    Keywords covid19
    Language English
    Publishing country it
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

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  6. Article ; Online: 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 / 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

    Science

    2020  Volume 370, Issue 6515, Page(s) eabd4570

    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 ( ... ...

    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.
    Keywords Multidisciplinary ; covid19
    Language English
    Publisher American Association for the Advancement of Science (AAAS)
    Publishing country us
    Document type Article ; Online
    ZDB-ID 128410-1
    ISSN 1095-9203 ; 0036-8075
    ISSN (online) 1095-9203
    ISSN 0036-8075
    DOI 10.1126/science.abd4570
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

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  7. Article ; Online: 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 / 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 / COVID-STORM Clinicians†, missing / COVID Clinicians†, missing / Imagine COVID Group†, missing / French COVID Cohort Study Group†, missing / CoV-Contact Cohort†, missing / Amsterdam UMC Covid-19, missing / Biobank†, missing / COVID Human Genetic Effort†, missing / NIAID-USUHS, missing / TAGC COVID Immunity Group†, missing

    SCIENCE ; ISSN: 0036-8075 ; ISSN: 1095-9203

    2020  

    Abstract: 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 ... ...

    Abstract 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.
    Keywords Medicine and Health Sciences ; Multidisciplinary ; HERPES-SIMPLEX ENCEPHALITIS ; NF-KAPPA-B ; DEFICIENCY ; SUSCEPTIBILITY ; covid19
    Subject code 616
    Language English
    Publishing country be
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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