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Articles, 3 registres trobats
Articles 3 registres trobats  
1.
10 p, 1.4 MB The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies / Manry, Jérémy ; Bastard, Paul ; Gervais, Adrian ; Le Voyer, Tom ; Rosain, Jérémie ; Philippot, Quentin ; Michailidis, Eleftherios ; Hoffmann, Hans-Heinrich ; Eto, Shohei ; Garcia-Prat, Marina (Hospital Universitari Vall d'Hebron) ; Bizien, Lucy ; Parra-Martínez, Alba (Hospital Universitari Vall d'Hebron) ; 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, Jesús ; Trouillet-Assant, Sophie ; Belot, Alexandre ; Saker, Kahina ; Garçon, Pierre ; Rivière, Jacques G.. (Hospital Universitari Vall d'Hebron) ; Lagier, Jean-Christophe ; Gentile, Stéphanie ; Rosen, Lindsey B. ; Shaw, Elana ; Morio, Tomohiro ; Tanaka, Junko ; Dalmau, David ; Tharaux, Pierre-Louis ; Sene, Damien ; Stepanian, Alain ; Mégarbane, Bruno ; Triantafyllia, Vasiliki ; Fekkar, Arnaud ; Heath, James R. ; Franco, Jose Luis ; Anaya, Juan-Manuel ; Solé-Violán, Jordi ; Imberti, Luisa ; Biondi, Andrea ; Bonfanti, Paolo ; Castagnoli, Riccardo ; Delmonte, Ottavia M. ; Zhang, Yu ; Snow, Andrew ; Holland, Steven M. ; Biggs, Catherine M. ; Moncada-Vélez, Marcela ; Arias, Andrés Augusto ; Lorenzo, Lazaro ; Boucherit, Soraya ; Anglicheau, Dany ; Planas, Anna Maria ; Haerynck, Filomeen ; Duvlis, Sotirija ; Ozcelik, Tayfun ; Keles, Sevgi ; Bousfiha, Ahmed A. ; El Bakkouri, Jalila ; Ramirez-Santana, Carolina ; Paul, Stephane ; Pan-Hammarström, Qiang ; Hammarström, Lennart ; Dupont, Annabelle ; Kurolap, Alina ; Metz, Christine N. ; Aiuti, Alessandro ; Casari, Giorgio ; Lampasona, Vito ; Ciceri, Fabio ; Barreiros, Lucila A. ; Domínguez-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 ; Kann, Nelli Y. ; Shcherbina, Anna ; Lau, Yu-Lung ; Leung, Daniel ; Coulongeat, Matthieu ; Marlet, Julien ; Koning, Rutger ; Reyes, Luis Felipe ; Chauvineau-Grenier, Angélique ; Venet, Fabienne ; Monneret, Guillaume ; Nussenzweig, Michel C. ; Arrestier, Romain ; Boudhabhay, Idris ; Baris-Feldman, Hagit ; Hagin, David ; Wauters, Joost ; Meyts, Isabelle ; Dyer, Adam H. ; Kennelly, Sean P. ; Bourke, Nollaig M. ; Halwani, Rabih ; Sharif-Askari, Fatemeh Saheb ; Dorgham, Karim ; Sallette, Jérôme ; Sedkaoui, Souad Mehlal ; AlKhater, Suzan ; Rigo Bonnin, Raül (Institut d'Investigació Biomèdica de Bellvitge) ; Morandeira, Francisco ; Roussel, Lucie ; Vinh, Donald C. ; Erikstrup, Christian ; Condino-Neto, Antonio ; Prando, Carolina ; Bondarenko, Anastasiia ; Spaan, András N. ; Gilardin, Laurent ; Fellay, Jacques ; Lyonnet, Stanislas ; Bilguvar, Kaya ; Lifton, Richard P. ; Mane, Shrikant ; Anderson, Mark S. ; Boisson, Bertrand ; Béziat, Vivien ; Zhang, Shen-Ying ; Andreakos, Evangelos ; Hermine, Olivier ; Pujol, Aurora 1968- (Institut d'Investigació Biomèdica de Bellvitge) ; Peterson, Pärt ; Mogensen, Trine H. ; Rowen, Lee ; Mond, James ; Debette, Stéphanie ; De Lamballerie, Xavier ; Burdet, Charles ; Bouadma, Lila ; Zins, Marie ; Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron) ; Colobrán Oriol, Roger (Hospital Universitari Vall d'Hebron) ; Gorochov, Guy ; Solanich, Xavier (Institut d'Investigació Biomèdica de Bellvitge) ; Susen, Sophie ; Martínez Picado, Francisco Javier (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ; Raoult, Didier ; Vasse, Marc ; Gregersen, Peter K. ; Piemonti, Lorenzo ; Rodríguez-Gallego, Carlos ; Notarangelo, Luigi ; Su, Helen C. ; Kisand, Kai ; Okada, Satoshi ; Puel, Anne ; Jouanguy, Emmanuelle ; Rice, Charles M. ; Tiberghien, Pierre ; Zhang, Qian ; Casanova, Jean-Laurent ; Abel, Laurent ; Cobat, Aurélie ; Universitat Autònoma de Barcelona
There is growing evidence that preexisting autoantibodies neutralizing type I interferons (IFNs) are strong determinants of life-threatening COVID-19 pneumonia. It is important to estimate their quantitative impact on COVID-19 mortality upon SARS-CoV-2 infection, by age and sex, as both the prevalence of these autoantibodies and the risk of COVID-19 death increase with age and are higher in men. [...]
2022 - 10.1073/pnas.2200413119
Proceedings of the National Academy of Sciences of the United States of America, Vol. 119 (may 2022)  
2.
17 p, 2.5 MB Autoantibodies against type I IFNs in patients with life-threatening COVID-19 / Bastard, Paul (The Rockefeller University. St. Giles Laboratory of Human Genetics of Infectious Diseases) ; Rosen, Lindsey B. (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ; Zhang, Qian (The Rockefeller University. St. Giles Laboratory of Human Genetics of Infectious Diseases) ; Michailidis, Eleftherios (The Rockefeller University. Laboratory of Virology and Infectious Disease) ; Hoffmann, Hans-Heinrich (The Rockefeller University. Laboratory of Virology and Infectious Disease) ; Zhang, Yu (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ; Dorgham, Karim (Sorbonne Université. Centre d'Immunologie et des Maladies Infectieuses) ; Philippot, Quentin (University of Paris. Imagine Institute) ; Rosain, Jérémie (University of Paris. Imagine Institute) ; Béziat, Vivien (The Rockefeller University. St. Giles Laboratory of Human Genetics of Infectious Diseases) ; Manry, Jeremy (University of Paris. Imagine Institute) ; Shaw, Elana (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ; Haljasmägi, Liis (University of Tartu. Institute of Biomedicine and Translational Medicine) ; Peterson, Pärt (University of Tartu. Institute of Biomedicine and Translational Medicine) ; Lorenzo, Lazaro (University of Paris. Imagine Institute) ; Bizien, Lucy (University of Paris. Imagine Institute) ; Trouillet-Assant, Sophie (Lyon University. International Center of Research in Infectiology) ; Dobbs, Kerry (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ; Almeida de Jesus, Adriana (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ; Belot, Alexandre (Lyon Immunopathology Federation. Hospices Civils de Lyon) ; Kallaste, Anne (Internal Medicine Clinic. Tartu University Hospital) ; Catherinot, Emilie (Hôpital Foch) ; Tandjaoui-Lambiotte, Yacine (Avicenne Hospital. Assistance Publique Hôpitaux de Paris) ; Le Pen, Jérémie (The Rockefeller University. Laboratory of Virology and Infectious Disease) ; Kerner, Gaspard (University of Paris. Imagine Institute) ; Bigio, Benedetta (The Rockefeller University. St. Giles Laboratory of Human Genetics of Infectious Diseases) ; Seeleuthner, Yoann (University of Paris. Imagine Institute) ; Yang, Rui (The Rockefeller University. St. Giles Laboratory of Human Genetics of Infectious Diseases) ; Bolze, Alexandre (Helix) ; Spaan, András N. (University Medical Center Utrecht) ; Delmonte, Ottavia M. (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ; Abers, Michael S. (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ; Aiuti, Alessandro (Istituto di Ricovero e Cura A Carattere Scientifico (IRCCS)) ; Casari, Giorgio (Medical Genetics. IRCCS Ospedale San Raffaele) ; Lampasona, Vito (Istituto di Ricovero e Cura A Carattere Scientifico (IRCCS)) ; Piemonti, Lorenzo (Istituto di Ricovero e Cura A Carattere Scientifico (IRCCS)) ; Ciceri, Fabio (Istituto di Ricovero e Cura A Carattere Scientifico (IRCCS)) ; Bilguvar, Kaya (Yale University School of Medicine. Department of Genetics) ; Lifton, Richard P. (Rockefeller University. Laboratory of Human Genetics and Genomics) ; Vasse, Marc (Consorcio Hospital. General Universitario) ; Smadja, David M. (Paris University. European Georges Pompidou Hospital) ; Migaud, Mélanie (University of Paris. Imagine Institute) ; Hadjadj, Jérome (Hôpital Cochin. Department of Internal Medicine) ; Terrier, Benjamin (Université de Paris. Department of Internal Medicine) ; Duffy, Darragh (Pasteur Institute) ; Quintana-Murci, Lluis (Institut Pasteur. Collège de France) ; van de Beek, Diederik (Amsterdam UMC. University Medical Center) ; Roussel, Lucie (McGill University Health Centre) ; Vinh, Donald C. (McGill University Health Centre) ; Tangye, Stuart (Garvan Institute of Medical Research (Darlinghurst, Austràlia)) ; Haerynck, Filomeen (Ghent University Hospital. (Bèlgica)) ; Dalmau, David (Fundació Docència i Recerca Mútua Terrassa) ; Martínez Picado, Francisco Javier (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ; Brodin, Petter (Karolinska Institutet (Estocolm, Suècia)) ; Nussenzweig, Michel (Howard Hughes Medical Institute) ; Boisson-Dupuis, Stephanie (The Rockefeller University. St. Giles Laboratory of Human Genetics of Infectious Diseases) ; Rodríguez-Gallego, Carlos (Hospital Universitario de Gran Canaria Dr. Negrín) ; Vogt, Guillaume (University of Paris. Neglected Human Genetics Laboratory) ; Mogensen, Trine Hyrup (Aarhus University) ; Oler, Andrew J. (Bioinformatics and Computational Biosciences Branch. Office of Cyber Infrastructure and Computational Biology. NIAID. NIH) ; Gu, Jingwen (Bioinformatics and Computational Biosciences Branch. Office of Cyber Infrastructure and Computational Biology. NIAID. NIH) ; Burbelo, Peter D. (Division of Intramural Research. National Institute of Dental Craniofacial Research (NIDCR). NIH) ; Cohen, Jeffrey I. (Laboratory of Infectious Diseases. Division of Intramural Research. NIAID. NIH) ; Biondi, Andrea (Pediatric Department. Centro Tettamanti-European Reference Network PaedCan. EuroBloodNet. MetabERN-University of Milano-Bicocca-Fondazione MBBMOspedale) ; Bettini, Laura Rachele (Pediatric Department. Centro Tettamanti-European Reference Network PaedCan. EuroBloodNet. MetabERN-University of Milano-Bicocca-Fondazione MBBMOspedale) ; D'Angio, Mariella (University of Milano-Bicocca. Pediatric Department) ; Bonfanti, Paolo (University of Milano-Bicocca. Department of Infectious Diseases) ; Rossignol, Patrick (University of Lorraine. Plurithematic Clinical Investigation Centre) ; Mayaux, Julien (APHP Pitié-Salpêtrière Hospital) ; Rieux-Laucat, Frédéric (Laboratory of Immunogenetics of Pediatric Autoimmune Diseases. INSERM. UMR 1163. University of Paris. Imagine Institute) ; Husebye, Eystein (Karolinska Institutet (Estocolm, Suècia). Department of Medicine) ; Fusco, Francesca (Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso'. IGB-CNR) ; Ursini, Matilde Valeria (Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso'. IGB-CNR) ; Imberti, Luisa (Centro di Ricerca Emato-oncologica AIL (CREA) Laboratory. Diagnostic Department. ASST Spedali Civili di Brescia) ; Sottini, Alessandra (Centro di Ricerca Emato-oncologica AIL (CREA) Laboratory. Diagnostic Department. ASST Spedali Civili di Brescia) ; Paghera, Simone (Centro di Ricerca Emato-oncologica AIL (CREA) Laboratory. Diagnostic Department. ASST Spedali Civili di Brescia) ; Quiros-Roldan, Eugenia (Department of Infectious and Tropical Diseases. University of Brescia. ASST Spedali di Brescia) ; Rossi, Camillo (Direzione Sanitaria. ASST Spedali Civili di Brescia) ; Castagnoli, Riccardo (Department of Pediatrics. Fondazione IRCCS Policlinico San Matteo. University of Pavia) ; Montagna, Daniela (Department of Clinical. Surgical. Diagnostic and Pediatric Sciences. University of Pavia) ; Licari, Amelia (Department of Pediatrics. Fondazione IRCCS Policlinico San Matteo. University of Pavia) ; Marseglia, Gian Luigi (Department of Pediatrics. Fondazione IRCCS Policlinico San Matteo. University of Pavia) ; Duval, Xavier (Centre d'Investigation Clinique. Inserm CIC 1425. Hôpital Bichat Claude Bernard. APHP) ; Ghosn, Jade (Hôpital Bichat) ; Tsang, John S. (Multiscale Systems Biology Section. Laboratory of Immune System Biology. NIAID. NIH) ; Goldbach-Mansky, Raphaela (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ; Kisand, Kai (Institute of Biomedicine and Translational Medicine. University of Tartu) ; Lionakis, Michail S. (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ; Puel, Anne (St. Giles Laboratory of Human Genetics of Infectious Diseases. Rockefeller Branch. The Rockefeller University) ; Zhang, Shein-Ying (St. Giles Laboratory of Human Genetics of Infectious Diseases. Rockefeller Branch. The Rockefeller University) ; Holland, Steven M. (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ; Gorochov, Guy (Département d'Immunologie. AP-HP. Hôpital Pitié-Salpétrière) ; Jouanguy, Emmanuelle (St. Giles Laboratory of Human Genetics of Infectious Diseases. Rockefeller Branch. The Rockefeller University) ; Rice, Charles M. (Laboratory of Virology and Infectious Disease. The Rockefeller University) ; Cobat, Aurélie (St. Giles Laboratory of Human Genetics of Infectious Diseases. Rockefeller Branch. The Rockefeller University) ; Notarangelo, Luigi (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ; Abel, Laurent (St. Giles Laboratory of Human Genetics of Infectious Diseases. Rockefeller Branch. The Rockefeller University) ; Su, Helen C. (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ; Casanova, Jean-Laurent (Pediatric Hematology and Immunology Unit. Necker Hospital for Sick Children. AP-HP) ; The University of Hong Kong HGID Lab ; The University of Hong Kong NIAID-USUHS Immune Response to COVID Group ; COVID Clinicians ; COVID-STORM Clinicians ; Imagine COVID Group ; French COVID Cohort Study Group ; The Milieu Intérieur Consortium ; CoV-Contact Cohort ; Amsterdam UMC Covid-19 Biobank ; COVID Human Genetic Effort ; Universitat Autònoma de Barcelona
Interindividual clinical variability in the course of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection is vast. We report that at least 101 of 987 patients with life-threatening coronavirus disease 2019 (COVID-19) pneumonia had neutralizing immunoglobulin G (IgG) autoantibodies (auto-Abs) against interferon-w (IFN-w) (13 patients), against the 13 types of IFN-a (36), or against both (52) at the onset of critical disease; a few also had auto-Abs against the other three type I IFNs. [...]
2020 - 10.1126/science.abd4585
Science, Vol. 370 Núm. 6515 (september 2020) , p. eabd4585  
3.
795.1 KB Genetic and phenotypic spectrum associated with IFIH1 gain-of-function / Rice, Gillian I. (University of Manchester) ; Park, Sehoon (Boston Children's Hospital (Boston, Estats Units d'Amèrica)) ; Gavazzi, Francesco (Children's Hospital of Philadelphia (Pennsilvània)) ; Adang, Laura A. (Children's Hospital of Philadelphia (Pennsilvània)) ; Ayuk, Loveline A. (Dumfries and Galloway Royal Infirmary) ; Eyck, Lien Van (Institut Imagine (Paris, França)) ; Seabra, Luis (Institut Imagine (Paris, França)) ; Barrea, Christophe (Université de Liège) ; Battini, Roberta (IRCCS Fondazione Stella Maris) ; Belot, Alexandre (Université de Lyon) ; Berg, Stefan (The Queen Silvia Children's Hospital) ; de Villemeur, Thierry Billette (Sorbonne Université) ; Bley, Annette E. (University Children's Hospital) ; Blumkin, Lubov (Tel-Aviv University) ; Boespflug-Tanguy, Odile (Centre de Référence Maladies Rares "Leucodystrophies") ; Briggs, Tracy A. (St Mary's Hospital) ; Brimble, Elise (Stanford University School of Medicine) ; Dale, Russell C.. (University of Sydney) ; Darin, Niklas (The Queen Silvia Children's Hospital) ; Debray, François-Guillaume (Université de Liège) ; De Giorgis, Valentina (IRCCS Mondino Foundation) ; Denecke, Jonas (University Medical Center Hamburg Eppendorf) ; Doummar, Diane (Hôpital Armand Trousseau (París, França)) ; Hagelsrum, Gunilla Drake af (PeThe Queen Silvia Children's Hospital) ; Eleftheriou, Despina (University College London (UCL)) ; Estienne, Margherita (Istituto Neurologico Carlo Besta) ; Fazzi, Elisa (University of Brescia. Department of Experimental and Clinical Sciences) ; Feillet, François (Centre de Référence des maladies métaboliques de Nancy (França)) ; Galli, Jessica (University of Brescia. Department of Experimental and Clinical Sciences) ; Hartog, Nicholas (Michigan State University College of Human Medicine) ; Harvengt, Julie (University of Liège. Department of Medical Genetics) ; Heron, Bénédicte (Hôpital Trousseau (París, França). Centre Référence des Maladies Lysosomales) ; Heron, Delphine (Groupe Hospitalier Pitié-Salpêtrière (París, França). UF Génétique Médicale et Centre de Référence "Déficiences Intellectuelles) ; Kelly, Diedre A. (Birmingham Women's and Children's Hospital (Regne Unit)) ; Lev, Dorit (The Rina Mor Institute of Medical Genetics (Holon, Israel)) ; Levrat, Virginie (Centre Hospitalier Annecy Genevois (Pringy, França)) ; Livingston, John H. (Leeds General Infirmary (Leeds, Regne Unit)) ; Marti, Itxaso (Hospital Universitario de Donostia (Sant Sebastià, País Basc)) ; Mignot, Cyril (GH Pitié-Sapêtrière (París, França). Departement de Génétique & Centre de Référence Déficience Intellectuelle de cause rare) ; Mochel, Fanny (Sorbonne Universités. Institut du Cerveau et de la Moelle épinière) ; Nougues, Marie-Christine (Hôpital Armand Trousseau (París, França)) ; Oppermann, Ilena (University Medical Center Hamburg Eppendorf) ; Pérez-Dueñas, Belén (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Popp, Bernt (Friedrich-Alexander-Universität Erlangen-Nürnberg. Institute of Human Genetics) ; Rodero, Mathieu P. (Institut Imagine (París, França). Laboratory of Neurogenetics and Neuroinflammation) ; Rodriguez, Diana (Hôpital Trousseau (París, França). Centre Référence des Maladies Lysosomales) ; Saletti, Veronica (Fondazione IRCCS Istituto Neurologico Carlo Besta (Milà, Itàlia)) ; Sharpe, Cia (Starship Children's Hospital (Auckland, Nova Zelanda)) ; Tonduti, Davide (V. Buzzi Children's Hospital (Milà, Itàlia)) ; Vadlamani, Gayatri (Leeds General Infirmary (Leeds, Regne Unit)) ; Haren, Keith Van (Stanford University School of Medicine. Department of Neurology) ; Vila, Miguel Tomas (Hospital Universitari i Politècnic La Fe (València)) ; Vogt, Julie (West Midlands Regional Clinical Genetics Service (Regne Unit)) ; Wassmer, Evangeline (Birmingham Women's and Children's Hospital (Regne Unit)) ; Wiedemann, Arnaud (Centre de Référence des maladies métaboliques de Nancy (França)) ; Wilson, Callum J. (Starship Children's Hospital (Auckland, Nova Zelanda)) ; Zerem, Ayelet (Tel-Aviv Universitym. Sackler Faculty of Medicine) ; Zweier, Christiane (Friedrich-Alexander-Universität Erlangen-Nürnberg) ; Zuberi, Sameer M. (University of Glasgow. School of Medicine) ; Orcesi, Simona (University of Pavia. Department of Brain and Behavioural Sciences) ; Vanderver, Adeline L. (Children's Hospital of Philadelphia (Pennsilvània)) ; Hur, Sun (Boston Children's Hospital (Boston, Estats Units d'Amèrica)) ; Crow, Yanick J. (University of Edinburgh. Institute of Genetics and Molecular Medicine) ; Universitat Autònoma de Barcelona
IFIH1 gain-of-function has been reported as a cause of a type I interferonopathy encompassing a spectrum of autoinflammatory phenotypes including Aicardi-Goutières syndrome and Singleton Merten syndrome. [...]
2020 - 10.1002/humu.23975
Human mutation, Vol. 41 (january 2020) , p. 837-849  

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