Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Autor: Matuozzo, Daniela, Talouarn, Estelle, Marchal, Astrid, Zhang, Peng, Manry, Jeremy, Seeleuthner, Yoann, Zhang, Yu, Bolze, Alexandre, Chaldebas, Matthieu, Milisavljevic, Baptiste, Gervais, Adrian, Bastard, Paul, Asano, Takaki, Bizien, Lucy, Barzaghi, Federica, Abolhassani, Hassan, Abou Tayoun, Ahmad, Aiuti, Alessandro, Alavi Darazam, Ilad, Allende, Luis M, Alonso-Arias, Rebeca, Arias, Andrés Augusto, Aytekin, Gokhan, Bergman, Peter, Bondesan, Simone, Bryceson, Yenan T, Bustos, Ingrid G, Cabrera-Marante, Oscar, Carcel, Sheila, Carrera, Paola, Casari, Giorgio, Chaïbi, Khalil, Colobran, Roger, Condino-Neto, Antonio, Covill, Laura E, Delmonte, Ottavia M, El Zein, Loubna, Flores, Carlos, Gregersen, Peter K, Gut, Marta, Haerynck, Filomeen, Halwani, Rabih, Hancerli, Selda, Hammarström, Lennart, Hatipoğlu, Nevin, Karbuz, Adem, Keles, Sevgi, Kyheng, Christèle, Leon-Lopez, Rafael, Franco, Jose Luis, Mansouri, Davood, Martinez-Picado, Javier, Metin Akcan, Ozge, Migeotte, Isabelle, Morange, Pierre-Emmanuel, Morelle, Guillaume, Martin-Nalda, Andrea, Novelli, Giuseppe, Novelli, Antonio, Ozcelik, Tayfun, Palabiyik, Figen, Pan-Hammarström, Qiang, de Diego, Rebeca Pérez, Planas-Serra, Laura, Pleguezuelo, Daniel E, Prando, Carolina, Pujol, Aurora, Reyes, Luis Felipe, Rivière, Jacques G, Rodriguez-Gallego, Carlos, Rojas, Julian, Rovere-Querini, Patrizia, Schlüter, Agatha, Shahrooei, Mohammad, Sobh, Ali, Soler-Palacin, Pere, Tandjaoui-Lambiotte, Yacine, Tipu, Imran, Tresoldi, Cristina, Troya, Jesus, van de Beek, Diederik, Zatz, Mayana, Zawadzki, Pawel, Al-Muhsen, Saleh Zaid, Alosaimi, Mohammed Faraj, Alsohime, Fahad M, Baris-Feldman, Hagit, Butte, Manish J, Constantinescu, Stefan N, Cooper, Megan A, Dalgard, Clifton L, Fellay, Jacques, Heath, James R, Lau, Yu-Lung, Lifton, Richard P, Maniatis, Tom, Mogensen, Trine H, von Bernuth, Horst, Lermine, Alban, Vidaud, Michel

Publikováno v: Genome medicine, vol 15, iss 1

BackgroundWe previously reported that impaired type I IFN activity, due to inborn errors of TLR3- and TLR7-dependent type I interferon (IFN) immunity or to autoantibodies against type I IFN, account for 15-20% of cases of life-threatening COVID-19 in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::43aba3f2090c669fbaed8d1689844f62
https://escholarship.org/uc/item/922199h2

Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths

Autor: Bastard, Paul, Gervais, Adrian, Le Voyer, Tom, Rosain, Jérémie, Philippot, Quentin, Manry, Jérémy, Michailidis, Eleftherios, Hoffmann, Hans-Heinrich, Eto, Shohei, Garcia-Prat, Marina, Bizien, Lucy, Parra-Martínez, Alba, Yang, Rui, Haljasmägi, Liis, Migaud, Mélanie, Särekannu, Karita, Maslovskaja, Julia, de Prost, Nicolas, Tandjaoui-Lambiotte, Yacine, Luyt, Charles-Edouard, Amador-Borrero, Blanca, Gaudet, Alexandre, Poissy, Julien, Morel, Pascal, Richard, Pascale, Cognasse, Fabrice, Troya, Jesus, Trouillet-Assant, Sophie, Belot, Alexandre, Saker, Kahina, Garçon, Pierre, Rivière, Jacques G, Lagier, Jean-Christophe, Gentile, Stéphanie, Rosen, Lindsey B, Shaw, Elana, Morio, Tomohiro, Tanaka, Junko, Dalmau, David, Tharaux, Pierre-Louis, Sene, Damien, Stepanian, Alain, Megarbane, Bruno, Triantafyllia, Vasiliki, Fekkar, Arnaud, Heath, James R, Franco, José Luis, Anaya, Juan-Manuel, Solé-Violán, Jordi, Imberti, Luisa, Biondi, Andrea, Bonfanti, Paolo, Castagnoli, Riccardo, Delmonte, Ottavia M, Zhang, Yu, Snow, Andrew L, Holland, Steven M, Biggs, Catherine, Moncada-Vélez, Marcela, Arias, Andrés Augusto, Lorenzo, Lazaro, Boucherit, Soraya, Coulibaly, Boubacar, Anglicheau, Dany, Planas, Anna M, Haerynck, Filomeen, Duvlis, Sotirija, Nussbaum, Robert L, Ozcelik, Tayfun, Keles, Sevgi, Bousfiha, Ahmed A, El Bakkouri, Jalila, Ramirez-Santana, Carolina, Paul, Stéphane, Pan-Hammarström, Qiang, Hammarström, Lennart, Dupont, Annabelle, Kurolap, Alina, Metz, Christine N, Aiuti, Alessandro, Casari, Giorgio, Lampasona, Vito, Ciceri, Fabio, Barreiros, Lucila A, Dominguez-Garrido, Elena, Vidigal, Mateus, Zatz, Mayana, van de Beek, Diederik, Sahanic, Sabina, Tancevski, Ivan, Stepanovskyy, Yurii, Boyarchuk, Oksana, Nukui, Yoko, Tsumura, Miyuki, Vidaur, Loreto, Tangye, Stuart G, Burrel, Sonia, Duffy, Darragh, Quintana-Murci, Lluis, Klocperk, Adam

Publikováno v: Science immunology, vol 6, iss 62

Circulating autoantibodies (auto-Abs) neutralizing high concentrations (10 ng/mL, in plasma diluted 1 to 10) of IFN-α and/or -ω are found in about 10% of patients with critical COVID-19 pneumonia, but not in subjects with asymptomatic infections. W

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::3f934d6579f73996b1dd28dd1a87fef0
https://escholarship.org/uc/item/1sp3z9cj

Auto-antibodies against type I IFNs in patients with life-threatening COVID-19

Autor: Bastard, P., Rosen, L. B., Zhang, Q., Michailidis, E., Hoffmann, H. -H., Zhang, Y., Dorgham, K., Philippot, Q., Rosain, J., Beziat, V., Manry, J., Shaw, E., Haljasmagi, L., Peterson, P., Lorenzo, L., Bizien, L., Trouillet-Assant, S., Dobbs, K., de Jesus, A. A., Belot, A., Kallaste, A., Catherinot, E., Tandjaoui-Lambiotte, Y., Le Pen, J., Kerner, G., Bigio, B., Seeleuthner, Y., Yang, R., Bolze, A., Spaan, A. N., Delmonte, O. M., Abers, M. S., Aiuti, A., Casari, G., Lampasona, V., Piemonti, L., Ciceri, F., Bilguvar, K., Lifton, R. P., Vasse, M., Smadja, D. M., Migaud, M., Hadjadj, J., Terrier, B., Duffy, D., Quintana-Murci, L., van de Beek, D., Roussel, L., Vinh, D. C., Tangye, S. G., Haerynck, F., Dalmau, D., Martinez-Picado, J., Brodin, P., Nussenzweig, M. C., Boisson-Dupuis, S., Rodriguez-Gallego, C., Vogt, G., Mogensen, T. H., Oler, A. J., Gu, J., Burbelo, P. D., Cohen, J. I., Biondi, A., Bettini, L. R., Dangio, M., Bonfanti, P., Rossignol, P., Mayaux, J., Rieux-Laucat, F., Husebye, E. S., Fusco, F., Ursini, M. V., Imberti, L., Sottini, A., Paghera, S., Quiros-Roldan, E., Rossi, C., Castagnoli, R., Montagna, D., Licari, A., Marseglia, G. L., Duval, X., Ghosn, J., Tsang, J. S., Goldbach-Mansky, R., Kisand, K., Lionakis, M. S., Puel, A., Zhang, S. -Y., Holland, S. M., Gorochov, G., Jouanguy, E., Rice, C. M., Cobat, A., Notarangelo, L. D., Abel, L., H. C., Su, Casanova, J. -L., Arias, A. A., Boisson, B., Boucherit, S., Bustamante, J., Chbihi, M., Chen, J., Chrabieh, M., Kochetkov, T., Le Voyer, T., Liu, D., Nemirovskaya, Y., Ogishi, M., Papandrea, D., Patissier, C., Rapaport, F., Roynard, M., Vladikine, N., Woollett, M., Zhang, P., Kashyap, A., Ding, L., Bosticardo, M., Wang, Q., Ochoa, S., Liu, H., Chauvin, S. D., Stack, M., Koroleva, G., Bansal, N., Dalgard, C. L., Snow, A. L., Abad, J., Aguilera-Albesa, S., Akcan, O. M., Darazam, I. A., Aldave, J. C., Ramos, M. A., Nadji, S. A., Alkan, G., Allardet-Servent, J., Allende, L. M., Alsina, L., Alyanakian, M. -A., Amador-Borrero, B., Amoura, Z., Antoli, A., Arslan, S., Assant, S., Auguet, T., Azot, A., Bajolle, F., Baldolli, A., Ballester, M., Feldman, H. B., Barrou, B., Beurton, A., Bilbao, A., Blanchard-Rohner, G., Blanco, I., Blandinieres, A., Blazquez-Gamero, D., Bloomfield, M., Bolivar-Prados, M., Borie, R., Bousfiha, A. A., Bouvattier, C., Boyarchuk, O., Bueno, M. R. P., Agra, J. J. C., Calimli, S., Capra, R., Carrabba, M., Casasnovas, C., Caseris, M., Castelle, M., Castelli, F., de Vera, M. C., Castro, M. V., Chalumeau, M., Charbit, B., Cheng, M. P., Clave, P., Clotet, B., Codina, A., Colkesen, F., Colobran, R., Comarmond, C., Corsico, A. G., Darley, D. R., Dauby, N., Dauger, S., de Pontual, L., Dehban, A., Delplancq, G., Demoule, A., Di Sabatino, A., Diehl, J. -L., Dobbelaere, S., Durand, S., Eldars, W., Elgamal, M., Elnagdy, M. H., Emiroglu, M., Erdeniz, E. H., Aytekin, S. E., Euvrard, R., Evcen, R., Fabio, G., Faivre, L., Falck, A., Fartoukh, M., Faure, M., Arquero, M. F., Flores, C., Francois, B., Fumado, V., Solis, B. G., Gaussem, P., Gil-Herrera, J., Gilardin, L., Alarcon, M. G., Girona-Alarcon, M., Goffard, J. -C., Gok, F., Gonzalez-Montelongo, R., Guerder, A., Gul, Y., Guner, S. N., Gut, M., Halwani, R., Hammarstrom, L., Hatipoglu, N., Hernandez-Brito, E., Holanda-Pena, M. S., Horcajada, J. P., Hraiech, S., Humbert, L., Iglesias, A. D., Inigo-Campos, A., Jamme, M., Arranz, M. J., Jordan, I., Kanat, F., Kapakli, H., Kara, I., Karbuz, A., Yasar, K. K., Keles, S., Demirkol, Y. K., Klocperk, A., Krol, Z. J., Kuentz, P., Kwan, Y. W. M., Lagier, J. -C., Lau, Y. -L., Le Bourgeois, F., Leo, Y. -S., Lopez, R. L., Leung, D., Levin, M., Levy, M., Levy, R., Li, Z., Linglart, A., Lorenzo-Salazar, J. M., Louapre, C., Lubetzki, C., Luyt, C. -E., Lye, D. C., Mansouri, D., Marjani, M., Pereira, J. M., Martin, A., Pueyo, D. M., Marzana, I., Mathian, A., Matos, L. R. B., Matthews, G. V., Mege, J. -L., Melki, I., Meritet, J. -F., Metin, O., Meyts, I., Mezidi, M., Migeotte, I., Millereux, M., Mirault, T., Mircher, C., Mirsaeidi, M., Melian, A. M., Martinez, A. M., Morange, P., Mordacq, C., Morelle, G., Mouly, S., Munoz-Barrera, A., Nafati, C., Neves, J. F., L. F. P., Ng, Medina, Y. N., Cuadros, E. N., Gonzalo Ocejo-Vinyals, J., Orbak, Z., Oualha, M., Ozcelik, T., Hammarstrom, Q. P., Parizot, C., Pascreau, T., Paz-Artal, E., de Diego, R. P., Philippe, A., Philippota, Q., Planas-Serra, L., Ploin, D., Poissy, J., Poncelet, G., Pouletty, M., Quentric, P., Raoult, D., Rebillat, A. -S., Reisli, I., Ricart, P., Richard, J. -C., Rivet, N., Riviere, J. G., Blanch, G. R., Rodrigo, C., Rodriguez-Palmero, A., Romero, C. S., Rothenbuhler, A., Rozenberg, F., del Prado, M. Y. R., Riera, J. S., Sanchez, O., Sanchez-Ramon, S., Schluter, A., Schmidt, M., Schweitzer, C. E., Scolari, F., Sediva, A., Seijo, L. M., Sene, D., Senoglu, S., Seppanen, M. R. 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Publikováno v: Milieu Intérieur Consortium, CoV-Contact Cohort, Amsterdam UMC Covid-19 Biobank, COVID Human Genetic Effort, HGID Lab, NIAID-USUHS Immune Response to COVID Group, COVID Clinicians, COVID-STORM Clinicians, Imagine COVID Group & French COVID Cohort Study Group 2020, ' Autoantibodies against type I IFNs in patients with life-threatening COVID-19 ', Science, vol. 370, no. 6515, eabd4585 . https://doi.org/10.1126/science.abd4585
Bastard, P, Rosen, L B, Zhang, Q, Michailidis, E, Hoffmann, H H, Zhang, Y, Dorgham, K, Philippot, Q, Rosain, J, Béziat, V, Manry, J, Shaw, E, Haljasmägi, L, Peterson, P, Lorenzo, L, Bizien, L, Trouillet-Assant, S, Dobbs, K, de Jesus, A A, Belot, A, Kallaste, A, Catherinot, E, Tandjaoui-Lambiotte, Y, Le Pen, J, Kerner, G, Bigio, B, Seeleuthner, Y, Yang, R, Bolze, A, Spaan, A N, Delmonte, O M, Abers, M S, Aiuti, A, Casari, G, Lampasona, V, Piemonti, L, Ciceri, F, Bilguvar, K, Lifton, R P, Vasse, M, Smadja, D M, Migaud, M, Hadjadj, J, Terrier, B, Duffy, D, Quintana-Murci, L, van de Beek, D, Roussel, L, Mogensen, T H, Casanova, J L, HGID Lab, NIAID-USUHS Immune Response to COVID Group, COVID Clinicians, COVID-STORM Clinicians, Imagine COVID Group, French COVID Cohort Study Group, Milieu Intérieur Consortium, CoV-Contact Cohort, Amsterdam UMC Covid-19 Biobank & COVID Human Genetic Effort 2020, ' Autoantibodies against type I IFNs in patients with life-threatening COVID-19 ', Science, vol. 370, no. 6515, eabd4585 . https://doi.org/10.1126/science.abd4585
Science
Science, American Association for the Advancement of Science, 2020, 370 (6515), pp.eabd4585. ⟨10.1126/science.abd4585⟩
Science (Wayville, S. Aust.) 370 (2020). doi:10.1126/science.abd4585
info:cnr-pdr/source/autori:Paul Bastard # 1 2 3, Lindsey B Rosen # 4, Qian Zhang # 3, Eleftherios Michailidis # 5, Hans-Heinrich Hoffmann # 5, Yu Zhang # 4, Karim Dorgham # 6, Quentin Philippot # 7 2, Jérémie Rosain # 7 2, Vivien Béziat # 7 2 3, Jérémy Manry 7 2, Elana Shaw 4, Liis Haljasmägi 8, Pärt Peterson 8, Lazaro Lorenzo 7 2, Lucy Bizien 7 2, Sophie Trouillet-Assant 9 10, Kerry Dobbs 4, Adriana Almeida de Jesus 4, Alexandre Belot 10 11 12, Anne Kallaste 13, Emilie Catherinot 14, Yacine Tandjaoui-Lambiotte 15, Jeremie Le Pen 5, Gaspard Kerner 7 2, Benedetta Bigio 3, Yoann Seeleuthner 7 2, Rui Yang 3, Alexandre Bolze 16, András N Spaan 3 17, Ottavia M Delmonte 4, Michael S Abers 4, Alessandro Aiuti 18, Giorgio Casari 18, Vito Lampasona 18, Lorenzo Piemonti 18, Fabio Ciceri 18, Kaya Bilguvar 19, Richard P Lifton 19 20 21, Marc Vasse 22, David M Smadja 23, Mélanie Migaud 7 2, Jérome Hadjadj 24, Benjamin Terrier 25, Darragh Duffy 26, Lluis Quintana-Murci 27 28, Diederik van de Beek 29, Lucie Roussel 30 31, Donald C Vinh 30 31, Stuart G Tangye 32 33, Filomeen Haerynck 34, David Dalmau 35, Javier Martinez-Picado 36 37 38, Petter Brodin 39 40, Michel C Nussenzweig 41 42, Stéphanie Boisson-Dupuis 7 2 3, Carlos Rodríguez-Gallego 43 44, Guillaume Vogt 45, Trine H Mogensen 46 47, Andrew J Oler 48, Jingwen Gu 48, Peter D Burbelo 49, Jeffrey I Cohen 50, Andrea Biondi 51, Laura Rachele Bettini 51, Mariella D'Angio 51, Paolo Bonfanti 52, Patrick Rossignol 53, Julien Mayaux 54, Frédéric Rieux-Laucat 24, Eystein S Husebye 55 56 57, Francesca Fusco 58, Matilde Valeria Ursini 58, Luisa Imberti 59, Alessandra Sottini 59, Simone Paghera 59, Eugenia Quiros-Roldan 60, Camillo Rossi 61, Riccardo Castagnoli 62, Daniela Montagna 63 64, Amelia Licari 62, Gian Luigi Marseglia 62, Xavier Duval 65 66 67 68 69, Jade Ghosn 68 69, HGID Lab; NIAID-USUHS Immune Response to COVID Group; COVID Clinicians; COVID-STORM Clinicians; Imagine COVID Group; French COVID Cohort Study Group; Milieu Intérieur Consortium; CoV-Contact Cohort; Amsterdam UMC Covid-19 Biobank; COVID Human Genetic Effort; John S Tsang 70 71, Raphaela Goldbach-Mansky 4, Kai Kisand 8, Michail S Lionakis 4, Anne Puel 7 2 3, Shen-Ying Zhang 7 2 3, Steven M Holland # 4, Guy Gorochov # 6 72, Emmanuelle Jouanguy # 7 2 3, Charles M Rice # 5, Aurélie Cobat # 7 2 3, Luigi D Notarangelo # 4, Laurent Abel # 7 2 3, Helen C Su # 4, Jean-Laurent Casanova/titolo:Autoantibodies against type I IFNs in patients with life-threatening COVID-19/doi:10.1126%2Fscience.abd4585/rivista:Science (Wayville, S. Aust.)/anno:2020/pagina_da:/pagina_a:/intervallo_pagine:/volume:370
Science, 370 (6515
Science (New York, N.y.)
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Science, 370(6515):eabd4585. American Association for the Advancement of Science
Science, 2020, 370 (6515), pp.eabd4585. ⟨10.1126/science.abd4585⟩
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Science (New York, N.Y.) 370 (2020). doi:10.1126/science.abd4585
info:cnr-pdr/source/autori:Bastard P.; Rosen L.B.; Zhang Q.; Michailidis E.; Hoffmann H.-H.; Zhang Y.; Dorgham K.; Philippot Q.; Rosain J.; Beziat V.; Manry J.; Shaw E.; Haljasmagi L.; Peterson P.; Lorenzo L.; Bizien L.; Trouillet-Assant S.; Dobbs K.; de Jesus A.A.; Belot A.; Kallaste A.; Catherinot E.; Tandjaoui-Lambiotte Y.; Le Pen J.; Kerner G.; Bigio B.; Seeleuthner Y.; Yang R.; Bolze A.; Spaan A.N.; Delmonte O.M.; Abers M.S.; Aiuti A.; Casari G.; Lampasona V.; Piemonti L.; Ciceri F.; Bilguvar K.; Lifton R.P.; Vasse M.; Smadja D.M.; Migaud M.; Hadjadj J.; Terrier B.; Duffy D.; Quintana-Murci L.; van de Beek D.; Roussel L.; Vinh D.C.; Tangye S.G.; Haerynck F.; Dalmau D.; Martinez-Picado J.; Brodin P.; Nussenzweig M.C.; Boisson-Dupuis S.; Rodriguez-Gallego C.; Vogt G.; Mogensen T.H.; Oler A.J.; Gu J.; Burbelo P.D.; Cohen J.I.; Biondi A.; Bettini L.R.; D'Angio M.; Bonfanti P.; Rossignol P.; Mayaux J.; Rieux-Laucat F.; Husebye E.S.; Fusco F.; Ursini M.V.; Imberti L.; Sottini A.; Paghera S.; Quiros-Roldan E.; Rossi C.; Castagnoli R.; Montagna D.; Licari A.; Marseglia G.L.; Duval X.; Ghosn J.; Tsang J.S.; Goldbach-Mansky R.; Kisand K.; Lionakis M.S.; Puel A.; Zhang S.-Y.; Holland S.M.; Gorochov G.; Jouanguy E.; Rice C.M.; Cobat A.; Notarangelo L.D.; Abel L.; Su H.C.; Casanova J.-L./titolo:Autoantibodies against type I IFNs in patients with life-threatening COVID-19/doi:10.1126%2Fscience.abd4585/rivista:Science (New York, N.Y.)/anno:2020/pagina_da:/pagina_a:/intervallo_pagine:/volume:370
Science, American Association for the Advancement of Science (AAAS), 2020, 370 (6515), pp.eabd4585. ⟨10.1126/science.abd4585⟩
eabd4585
370:eabd4585
SCIENCE
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HGID Lab Andrés Augusto Arias1,3, Bertrand Boisson1,2, Soraya Boucherit2, Jacinta Bustamante1,2, Marwa Chbihi2, Jie Chen1, Maya Chrabieh2, Tatiana Kochetkov1, Tom Le Voyer2, Dana Liu1, Yelena Nemirovskaya1, Masato Ogishi1, Dominick Papandrea1, Céci

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e45dfdfa6aab0683289a59e92561b44