Publication:
Inborn Errors of Type I IFN Immunity in Patients With Life-Threatening COVID-19

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dc.authorscopusid57201744949
dc.authorscopusid59624944500
dc.authorscopusid53871872000
dc.authorscopusid57445876300
dc.authorscopusid55636909000
dc.authorscopusid56024789800
dc.authorscopusid56972335100
dc.contributor.authorZhang, Q.
dc.contributor.authorLiu, Z.
dc.contributor.authorMoncada-Vélez, M.
dc.contributor.authorChen, J.
dc.contributor.authorOgishi, M.
dc.contributor.authorBigio, B.
dc.contributor.authorYang, R.
dc.date.accessioned2025-12-11T00:27:04Z
dc.date.issued2020
dc.departmentOndokuz Mayıs Üniversitesien_US
dc.department-temp[Zhang] Qian, St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, New York, NY, United States; [Liu] Zhiyong, St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, New York, NY, United States; [Moncada-Vélez] Marcela, St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, New York, NY, United States; [Chen] Jie, St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, New York, NY, United States; [Ogishi] Masato, St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, New York, NY, United States; [Bigio] Benedetta, St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, New York, NY, United States; [Yang] Rui, St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, New York, NY, United States; [Arias] Andrés Augusto, Group of Primary Immunodeficiencies, Universidad de Antioquia, Medellin, Antioquia, Colombia; [Zhou] Qinhua, St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, New York, NY, United States; [Han] Jieun, St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, New York, NY, United States; [Ugurbil] Aileen Camille, St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, New York, NY, United States; [Zhang] Peng, St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, New York, NY, United States; [Rapaport] Franck T., St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, New York, NY, United States; [Li] Juan, St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, New York, NY, United States; [Spaan] András N., St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, New York, NY, United States; [Boisson] Bertrand, St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, New York, NY, United States; [Boisson-Dupuis] Stéphanie, Laboratory of Human Genetics of Infectious Diseases, Hôpital Necker Enfants Malades, Paris, France; [Bustamante] Jacinta C., St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, New York, NY, United States; [Puel] Anne, Université Paris Cité, Paris, Ile-de-France, France; [Ciancanelli] Michael J., St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, New York, NY, United States; [Zhang] Shenying, St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, New York, NY, United States; [Béziat] Vivien, Université Paris Cité, Paris, Ile-de-France, France; [Jouanguy] Emmanuelle, St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, New York, NY, United States; [Abel] Laurent, San Raffaele Telethon Institute for Gene Therapy, Milan, MI, Italy; [Cobat] Aurélie, St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, New York, NY, United States; [Casanova] Jean Laurent, St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, New York, NY, United States, Laboratory of Human Genetics of Infectious Diseases, Hôpital Necker Enfants Malades, Paris, France, Université Paris Cité, Paris, Ile-de-France, France, Howard Hughes Medical Institute, Chevy Chase, MD, United States, Pediatric Hematology-Immunology Unit, Hôpital Necker Enfants Malades, Paris, France, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), Bethesda, MD, United States; [Bastard] Paul, Université Paris Cité, Paris, Ile-de-France, France; [Korol] Cecilia B., Laboratory of Human Genetics of Infectious Diseases, Hôpital Necker Enfants Malades, Paris, France; [Rosain] Jérémie, Laboratory of Human Genetics of Infectious Diseases, Hôpital Necker Enfants Malades, Paris, France; [Philippot] Quentin, Hôpital Tenon, Paris, Ile-de-France, France; [Chbihi] Marwa, Laboratory of Human Genetics of Infectious Diseases, Hôpital Necker Enfants Malades, Paris, France; [Lorenzo] Lazaro, Laboratory of Human Genetics of Infectious Diseases, Hôpital Necker Enfants Malades, Paris, France; [Bizien] Lucy, Université Paris Cité, Paris, Ile-de-France, France; [Neehus] Anna Lena, Université Paris Cité, Paris, Ile-de-France, France; [Kerner] Gaspard, Laboratory of Human Genetics of Infectious Diseases, Hôpital Necker Enfants Malades, Paris, France; [Seeleuthner] Yoann, Université Paris Cité, Paris, Ile-de-France, France; [Manry] Jeremy, Laboratory of Human Genetics of Infectious Diseases, Hôpital Necker Enfants Malades, Paris, France; [Le Voyer] Tom, Université Paris Cité, Paris, Ile-de-France, France; [Le Pen] Jérémie, Laboratory of Virology and Infectious Disease, Rockefeller University, New York, NY, United States; [Schneider] William M., Laboratory of Virology and Infectious Disease, Rockefeller University, New York, NY, United States; [Razooky] Brandon S., Laboratory of Virology and Infectious Disease, Rockefeller University, New York, NY, United States; [Hoffmann] Hans Heinrich, Laboratory of Virology and Infectious Disease, Rockefeller University, New York, NY, United States; [Michailidis] Eleftherios, Laboratory of Virology and Infectious Disease, Rockefeller University, New York, NY, United States; [Rice] Charles M., Laboratory of Virology and Infectious Disease, Rockefeller University, New York, NY, United States; [Sabli] Ira K.D., Department of Paediatric Infectious Diseases, Imperial College London, London, United Kingdom; [Hodeib] Stephanie, Department of Paediatric Infectious Diseases, Imperial College London, London, United Kingdom; [Sancho-Shimizu] Vanessa, Department of Paediatric Infectious Diseases, Imperial College London, London, United Kingdom; [Bilgüvar] Kaya, Department of Genetics, Yale School of Medicine, New Haven, CT, United States; [Ye] Junqiang, Zuckerman Mind Brain Behavior Institute, Columbia University, New York, NY, United States; [Maniatis] Tom, New York Genome Center, New York, NY, United States; [Bolze] Alexandre, Helix, San Mateo, CA, United States; [Zhang] Yu, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), Bethesda, MD, United States; [Notarangelo] Luigi Daniele, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), Bethesda, MD, United States; [Su] Helen C., Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), Bethesda, MD, United States, National Institute of Allergy and Infectious Diseases (NIAID), Bethesda, MD, United States, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, RM, Italy; [Onodi] Fanny, Institut de Recherche Saint-Louis, Paris, Ile-de-France, France; [Korniotis] Sarantis, Institut de Recherche Saint-Louis, Paris, Ile-de-France, France; [Karpf] Lea, Institut de Recherche Saint-Louis, Paris, Ile-de-France, France; [Soumelis] Vassili, Laboratory of Immunology, Hôpital Saint-Louis, Paris, France; [Bonnet-Madin] Lucie, Genomes & Cell Biology of Disease Unit, Institut de Recherche Saint-Louis, Paris, Ile-de-France, France; [Amara] Ali, Genomes & Cell Biology of Disease Unit, Institut de Recherche Saint-Louis, Paris, Ile-de-France, France; [Dorgham] Karim, Hôpital Universitaire Pitié Salpêtrière, Paris, Ile-de-France, France; [Gorochov] Guy, Hôpital Universitaire Pitié Salpêtrière, Paris, Ile-de-France, France; [Smith] Nikaïa, Translational Immunology Lab, Institut Pasteur, Paris, Paris, Ile-de-France, France; [Duffy] Darragh, Translational Immunology Lab, Institut Pasteur, Paris, Paris, Ile-de-France, France; [Moens] Leen, Department of Pediatrics, Departement Microbiologie, Immunologie en Transplantatie, Leuven, Vlaams-Brabant, Belgium; [Meyts] Isabelle, Department of Pediatrics, Departement Microbiologie, Immunologie en Transplantatie, Leuven, Vlaams-Brabant, Belgium, Department of Pediatrics, KU Leuven– University Hospital Leuven, Leuven, Vlaams-Brabant, Belgium, KU Leuven– University Hospital Leuven, Leuven, Vlaams-Brabant, Belgium, Columbia University Irving Medical Center, New York, NY, United States; [Meade] Philip S., Department of Microbiology, Icahn School of Medicine at Mount Sinai, New York, NY, United States; [García-Sastre] Adolfo, Department of Microbiology, Icahn School of Medicine at Mount Sinai, New York, NY, United States, Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, United States, Global Health and Emerging Pathogens Institute, Icahn School of Medicine at Mount Sinai, New York, NY, United States, Icahn School of Medicine at Mount Sinai, New York, NY, United States; [Krammer] Florian H., Department of Microbiology, Icahn School of Medicine at Mount Sinai, New York, NY, United States; [Corneau] Aurélien, Hôpital Universitaire Pitié Salpêtrière, Paris, Ile-de-France, France; [Masson] Cécile, Bioinformatics Platform, Université Paris Cité, Paris, Ile-de-France, France; [Schmitt] Yohann, Bioinformatics Platform, Université Paris Cité, Paris, Ile-de-France, France; [Schlüter] Agatha, Neurometabolic Diseases Laboratory, Instituto de Salud Carlos III, Madrid, Madrid, Spain; [Pujol] Aurora, Collège de France, Paris, Ile-de-France, France; [Khan] Taushif, Department of Immunology, Sidra Medicine, Doha, Qatar; [Marr] Nico, Department of Immunology, Sidra Medicine, Doha, Qatar; [Fellay] Jacques, SIB Swiss Institute of Bioinformatics, Lausanne, Switzerland; [Roussel] Lucie, Infectious Disease Susceptibility Program, L'Institut de Recherche du Centre Universitaire de Santé McGill, Montreal, QC, Canada; [Vinh] Donald C., Infectious Disease Susceptibility Program, L'Institut de Recherche du Centre Universitaire de Santé McGill, Montreal, QC, Canada, Charité – Universitätsmedizin Berlin, Berlin, Berlin, Germany; [Shahrooei] Mohammad, Specialized Immunology Laboratory of Dr. Shahrooei, Sina Medical Complex, Ahvaz, Iran; [Shahrooei] Mohammad, Inserm, Paris, Ile-de-France, France; [Alosaimi] Mohammed F., Department of Pathology and Laboratory Medicine, College of Medicine, Riyadh, Riyad, Saudi Arabia; [Alsohime] Fahad M., Department of Pathology and Laboratory Medicine, College of Medicine, Riyadh, Riyad, Saudi Arabia; [Hasanato] Rana Muhammed W., Department of Pathology and Laboratory Medicine, College of Medicine, Riyadh, Riyad, Saudi Arabia; [Mansouri] Davood, Department of Clinical Immunology and Infectious Diseases, National Research Institute of Tuberculosis and Lung Disease Tehran, Tehran, Tehran, Iran, SBUMS Clinical Tuberculosis and Epidemiology Research Center, Tehran, Tehran, Iran, Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Disease Tehran, Tehran, Tehran, Iran, Department of Clinical Immunology and Infectious Diseases, National Research Institute of Tuberculosis and Lung Disease Tehran, Tehran, Tehran, Iran, Semmelweis Egyetem, Budapest, Hungary; [Al-Saud] Haya, King Abdulaziz City for Science and Technology, Riyadh, Riyad, Saudi Arabia; [Almourfi] Feras M., King Abdulaziz City for Science and Technology, Riyadh, Riyad, Saudi Arabia; [Al-Mulla] F., Dasman Diabetes Institute, Dasman, Kuwait, University of California, San Francisco, San Francisco, CA, United States; [Al-Muhsen] Saleh Zaid, Department of Pediatrics, King Saud University, Riyadh, Riyad, Saudi Arabia; [Al Turki] Saeed, Division of Translational Pathology, King Abdulaziz Medical City - Riyadh, Riyadh, Riyad, Saudi Arabia; [al-Turki] Saeed H., Department of Blood and Cancer Research, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Riyad, Saudi Arabia; [van de Beek] Diederik V.D., Department of Neurology, Vrije Universiteit Amsterdam, Amsterdam, Noord-Holland, Netherlands, Department of Pulmonology, Amsterdam UMC, Amsterdam, Netherlands, University of California, San Francisco, San Francisco, CA, United States; [Biondi] Andrea, Department of Pediatrics, Università degli Studi di Milano-Bicocca, Milan, MI, Italy; [Bettini] Laura Rachele, Department of Pediatrics, Università degli Studi di Milano-Bicocca, Milan, MI, Italy; [D’Angiò] Mariella, Department of Pediatrics, Università degli Studi di Milano-Bicocca, Milan, MI, Italy; [Bonfanti] Paolo, Department of Infectious Diseases, Università degli Studi di Milano-Bicocca, Milan, MI, Italy; [Imberti] Luisa, CREA Laboratory, Spedali Civili Di Brescia, Brescia, BS, Italy; [Sottini] Alessandra, CREA Laboratory, Spedali Civili Di Brescia, Brescia, BS, Italy; [Paghera] Simone, CREA Laboratory, Spedali Civili Di Brescia, Brescia, BS, Italy; [Quiròs-Roldan] Eugenia, Department of Infectious and Tropical Diseases, Università degli Studi di Brescia, Brescia, BS, Italy; [Rossi] Camillo, Medical Officer, Spedali Civili Di Brescia, Brescia, BS, Italy; [Oler] Andrew J., Bioinformatics and Computational Biosciences Branch, National Institute of Allergy and Infectious Diseases (NIAID), Bethesda, MD, United States; [Tompkins] Miranda Faith, Uniformed Services University of the Health Sciences, Bethesda, MD, United States; [Alba] Camille, Uniformed Services University of the Health Sciences, Bethesda, MD, United States; [Dalgard] Clifton L., Uniformed Services University of the Health Sciences, Bethesda, MD, United States; [Vandernoot] Isabelle, Center of Human Genetics, Hôpital Erasme, Brussels, BRU, Belgium; [Smits] Guillaume, Center of Human Genetics, Hôpital Erasme, Brussels, BRU, Belgium; [Goffard] J. C., Department of Internal Medicine, Hôpital Erasme, Brussels, BRU, Belgium, Department of Internal Medicine, Hôpital Erasme, Brussels, BRU, Belgium; [Migeotte] Isabelle, Center of Human Genetics, Hôpital Erasme, Brussels, BRU, Belgium; [Haerynck] Filomeen, Department of Paediatric Immunology and Pulmonology, Universitair Ziekenhuis Gent, Ghent, VOV, Belgium; [Soler-Palacín] P., Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d'Hebron Institut de Recerca, Barcelona, Spain; [Martín-Nalda] Andrea, Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d'Hebron Institut de Recerca, Barcelona, Spain; [Colobran Oriol] Roger, UAB, Hospital Universitari Vall d'Hebron, Barcelona, Barcelona, Spain; [Morange] Pierre Emmanuel, Aix Marseille Université, Marseille, Provence-Alpes-Cote d'Azur, France; [Keles] Sevgi, Division of Pediatric Allergy and Immunology, Necmettin Erbakan Üniversitesi, Meram, Konya, Turkey; [Colkesen] Fatma, Department of Infectious Diseases and Clinical Microbiology, Konya Meram Training and Research Hospital, Konya, Turkey; [Kart-Yaşar] Kadriye, Department of Infectious Diseases and Clinical Microbiology, University of Health Sciences, Istanbul, Turkey; [Senoglu] Sevtap, Department of Infectious Diseases and Clinical Microbiology, University of Health Sciences, Istanbul, Turkey; [Karabela] Şemsi Nur, Department of Infectious Diseases and Clinical Microbiology, University of Health Sciences, Istanbul, Turkey; [Rodríguez-Gallego] Carlos, Universidad Fernando Pessoa Canarias, Santa Maria de Guia de Gran Canaria, Las Palmas, Spain; [Novelli] Giuseppe, Department of Biomedicine and Prevention, Università degli Studi di Roma "Tor Vergata", Rome, RM, Italy, Trinity College Dublin, Dublin, Leinster, Ireland; [Hraiech] Sami, Medical Intensive Care Unit, AP-HM Assistance Publique - Hôpitaux de Marseille, Marseille, Provence-Alpes-Cote d'Azur, France; [Tandjaoui-Lambiotte] Yacine, Inserm, Paris, Ile-de-France, France; [Duval] Xavier, Université Paris Cité, Paris, Ile-de-France, France; [Laouenan] Cedric, Hopital Louis-Mourier, Colombes, Ile-de-France, France; [Snow] Andrew L., Department of Pharmacology and Molecular Therapeutics, Uniformed Services University of the Health Sciences, Bethesda, MD, United States; [Dalgard] Clifton L., Department of Anatomy, Uniformed Services University of the Health Sciences, Bethesda, MD, United States; [Milner] Joshua D., Ss. Cyril and Methodius University in Skopje, Skopje, North Macedonia; [Mogensen] Trine Hyrup, Department of Infectious Diseases, Aarhus Universitetshospital, Aarhus, Midtjylland, Denmark, Department of Biomedicine, Aarhus Universitet, Aarhus, Midtjylland, Denmark, Institute of Science Tokyo Hospital, Tokyo, Japan; [Nussenzweig] Michel C., Laboratory of Molecular Immunology, Rockefeller University, New York, NY, United States, Howard Hughes Medical Institute, Chevy Chase, MD, United States; [Lifton] Richard P., Laboratory of Human Genetics and Genomics, Rockefeller University, New York, NY, United States; [Foti] Giuseppe, Accident and Emergency Department, Università degli Studi di Milano-Bicocca, Milan, MI, Italy; [Bellani] Giacomo, Accident and Emergency Department, Università degli Studi di Milano-Bicocca, Milan, MI, Italy; [Citerio] Giuseppe, Accident and Emergency Department, Università degli Studi di Milano-Bicocca, Milan, MI, Italy; [Contro] Ernesto, Accident and Emergency Department, Università degli Studi di Milano-Bicocca, Milan, MI, Italy; [Pesci] Alberto, Department of Pneumology, Università degli Studi di Milano-Bicocca, Milan, MI, Italy; [Valsecchi] Maria Grazia, Center of Bioinformatics and Biostatistics, Università degli Studi di Milano-Bicocca, Milan, MI, Italy; [Cazzaniga] Marina Elena, Phase I Research Center, Università degli Studi di Milano-Bicocca, Milan, MI, Italy; [Abad] Jorge L., Hospital Universitari Germans Trias i Pujol, Badalona, Spain; [Blanco] Ignacio, Hospital Universitari Germans Trias i Pujol, Badalona, Spain; [Rodrigo] Carlos, Hospital Universitari Germans Trias i Pujol, Badalona, Spain; [Aguilera-Albesa] Sergio, Navarra Health Service Hospital, Pamplona, Spain; [Blanco] Ignacio, Meram Medical Faculty, Necmettin Erbakan Üniversitesi, Meram, Konya, Turkey; [Alavi Darazam] Ilad, Department of Infectious Diseases, Loghman Hakim Educational Hospital, Tehran, Tehran, Iran; [Aldave-Becerra] Juan Carlos, Hospital Nacional Edgardo Rebagliati Martins, EsSalud, Lima, Lima, Peru; [Ramos] Miquel Alfonso, Parc Sanitari Sant Joan de Déu, Sant Boi de Llobregat, Catalonia, Spain; [Nadji] Seyed Alireza, Virology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Tehran, Iran; [Alkan] Gülsüm, Department of Pediatric Infectious Diseases, Selçuk Tip Fakültesi, Konya, Turkey; [Allardet-Servent] Jérôme, Intensive Care Unit, Hôpital Européen, Marseille, France; [Allende] Luís Miguel, Department of Immunology, Hospital Universitario 12 de Octubre, Madrid, Madrid, Spain; [Alsina] Laia, Clinical Immuology and Primary Immunodeficiencies Unit, Hospital Sant Joan de Déu Barcelona, Esplugues de Llobregat, Barcelona, Spain; [Alyanakian] Marie Alexandra, Department of Immunology, Hôpital Necker Enfants Malades, Paris, France; [Amador-Borrero] Blanca, Department of Internal Medicine, Université Paris Cité, Paris, Ile-de-France, France; [Mouly] St́ephane J., Department of Internal Medicine, Université Paris Cité, Paris, Ile-de-France, France; [Sène] Damien, Department of Internal Medicine, Université Paris Cité, Paris, Ile-de-France, France; [Amoura] Zahir, Department of Internal Medicine, Hôpital Universitaire Pitié Salpêtrière, Paris, Ile-de-France, France; [Mathian] Alexis, Department of Internal Medicine, Hôpital Universitaire Pitié Salpêtrière, Paris, Ile-de-France, France; [Antoli] Arnau, Hospital Universitari de Bellvitge, Barcelona, Barcelona, Spain; [Blanch] Gemma Rocamora, Hospital Universitari de Bellvitge, Barcelona, Barcelona, Spain; [Riera] Joan Sabater, Hospital Universitari de Bellvitge, Barcelona, Barcelona, Spain; [Moreno] Xavier Solanich, Hospital Universitari de Bellvitge, Barcelona, Barcelona, Spain; [Arslan] Sevket, Meram Medical Faculty, Necmettin Erbakan Üniversitesi, Meram, Konya, Turkey; [Assant] Sophie, Joint Research Unit, Centre Hospitalier Lyon-Sud, Lyon, France; [Auguet] T., Institut d'Investigació Sanitària Pere Virgili, Tarragona, Tarragona, Spain; [Azot] Axelle, Private Practice, Paris, France; [Bajolle] Fanny, Hôpital Necker Enfants Malades, Paris, France; [Levy] Romain, Hôpital Necker Enfants Malades, Paris, France; [Oualha] Mehdi, Hôpital Necker Enfants Malades, Paris, France; [Baldolli] Aurélie, Department of Infectious Diseases, CHU de Caen Normandie, Caen, Normandie, France; [Ballester] Maite, Hospital General Universitario de Valencia, Valencia, Valencia, Spain; [Feldman] Hagit Baris, Icahn School of Medicine at Mount Sinai, New York, NY, United States; [Barŕou] Benoît M., Department of Urology, Sorbonne Université, Paris, Ile-de-France, France; [Beurton] Alexandra, Service de Médecine Intensive-Réanimation et Pneumologie, Hôpital Universitaire Pitié Salpêtrière, Paris, Ile-de-France, France; [Bilbao] Agurtzane, Osakidetza, Cruces University Hospital, Baracaldo, Biscay, Spain; [Blanchard-Rohner] Géraldine, Paediatric Immunology and Vaccinology Unit, Hôpitaux Universitaires de Genève, Geneva, GE, Switzerland; [Blandinières] Adeline, Department of Hematology, Hôpital Européen Georges-Pompidou, Paris, Ile-de-France, France; [Rivet] Nadia, Department of Hematology, Hôpital Européen Georges-Pompidou, Paris, Ile-de-France, France; [Blázquez-Gamero] Daniel, Pediatric Infectious Diseases Unit, Hospital Universitario 12 de Octubre, Madrid, Madrid, Spain; [Bloomfield] Markéta, Department of Pediatrics, Fakultní Nemocnice v Motole, Prague, Czech Republic; [Bolívar-Prados] Mireia, Hospital de Mataro, Barcelona, Barcelona, Spain; [Clavé] Pere, Hospital de Mataro, Barcelona, Barcelona, Spain; [Borie] Raphaël, Service of Pneumology, Hôpital Bichat-Claude-Bernard AP-HP, Paris, France; [Bosteels] Cédric, Department of Pulmonology, Universitair Ziekenhuis Gent, Ghent, VOV, Belgium; [Lambrecht] Bart Norbert, Department of Pulmonology, Universitair Ziekenhuis Gent, Ghent, VOV, Belgium; [Van Braeckel] Eva, Department of Pulmonology, Universitair Ziekenhuis Gent, Ghent, VOV, Belgium; [Bousfiha] Ahmed Aziz, Karolinska Institutet, Stockholm, Stockholms, Sweden; [Bouvattier] Claire E., Endocrinology Unit, APHP Hôpitaux Universitaires Paris-Sud, Le Kremlin-Bicetre, France; [Vincent] Audrey, Endocrinology Unit, APHP Hôpitaux Universitaires Paris-Sud, Le Kremlin-Bicetre, France; [Boyarchuk] Oksana R., Department of Children's Diseases and Pediatric Surgery, I. Horbachevsky Ternopil National Medical University, Ternopil, Ternopil Oblast, Ukraine; [Bueno] Maria Rita Passos, Human Genome and Stem Cell Research Center, Universidade de São Paulo, Sao Paulo, SP, Brazil; [de Castro] Mateus V., Human Genome and Stem Cell Research Center, Universidade de São Paulo, Sao Paulo, SP, Brazil; [Matos] Larissa R.B., Human Genome and Stem Cell Research Center, Universidade de São Paulo, Sao Paulo, SP, Brazil; [Zatz] Mayana, Human Genome and Stem Cell Research Center, Universidade de São Paulo, Sao Paulo, SP, Brazil; [Agra] Juan José Caceres, Complejo Hospitalario Universitario Insular Materno-Infantil, Las Palmas de Gran Canaria, Las Palmas, Spain; [Calimli] Semra, Department of Anesthesiology, Konya State Hospital, Konya, Konya, Turkey; [Capra] Ruggero, MS Center, Spedali Civili Di Brescia, Brescia, BS, Italy; [Carrabba] Maria Domenica, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, MI, Italy; [Fabio] Giovanna, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, MI, Italy; [Casasnovas] C., Hospital Universitari de Bellvitge, Barcelona, Barcelona, Spain; [Vélez-Santamaría] Valentina, Hospital Universitari de Bellvitge, Barcelona, Barcelona, Spain; [Caséris] Marion, Hôpital Robert-Debré AP-HP, Paris, France; [Falck] Antonin, Hôpital Robert-Debré AP-HP, Paris, France; [Poncelet] Géraldine, Hôpital Robert-Debré AP-HP, Paris, France; [Castelle] Martin, Pediatric Immuno-Hematology Unit, Hôpital Necker Enfants Malades, Paris, France; [Castelli] Francesco, Department of Infectious and Tropical Diseases, Università degli Studi di Brescia, Brescia, BS, Italy; [de Vera] Martin Castillo, Doctoral Health Care Center, Canarian Health System, Las Palmas de Gran Canaria, Spain; [Catherinot] Émilie, Hopital Foch, Suresnes, France; [Chalumeau] Martin, Hôpital Necker Enfants Malades, Paris, France; [Toubiana] Julie, Hôpital Necker Enfants Malades, Paris, France; [Charbit] Bruno, Institut Pasteur, Paris, Paris, Ile-de-France, France; [Li] Zhi, Institut Pasteur, Paris, Paris, Ile-de-France, France; [Pellegrini] Sandra, Institut Pasteur, Paris, Paris, Ile-de-France, France; [Cheng] Matthew P., Centre Universitaire de Santé McGill, Montreal, QC, Canada; [Clotet] Bonaventura, IrsiCaixa AIDS Research Institute, Hospital Universitari Germans Trias i Pujol, Badalona, Spain; [Codina] Anna Esteve, Paediatric Neurology, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Madrid, Spain; [Çölkesen] Fatih, Department of Internal Medicine, Necmettin Erbakan Üniversitesi, Meram, Konya, Turkey; [Comarmond] Cloé, Hôpital Universitaire Pitié Salpêtrière, Paris, Ile-de-France, France; [Dalmau] David, Mutua de Terrassa, Terrassa, Barcelona, Spain; [Darley] David R., Department of Thoracic Medicine, St. Vincent's Hospital Sydney, Sydney, NSW, Australia; [Dauby] Nicolas, Université Libre de Bruxelles, Brussels, BRU, Belgium; [Dauger] Stéphane, Pediatric Intensive Care Unit, Hôpital Robert-Debré AP-HP, Paris, France; [Le Bourgeois] Fleur, Pediatric Intensive Care Unit, Hôpital Robert-Debré AP-HP, Paris, France; [Lévy] Michaël, Pediatric Intensive Care Unit, Hôpital Robert-Debré AP-HP, Paris, France; [De-Pontual] Loíc, Hopital Jean-Verdier, Bondy, France; [Dehban] Amin, Specialized Immunology Laboratory of Dr. Shahrooei, Sina Medical Complex, Ahvaz, Iran; [Delplancq] Geoffroy, Centre de Génétique Humaine, Centre Hospitalier Universitaire de Besançon, Besancon, Bourgogne-Franche-Comte, France; [Demoule] Alexandre, Sorbonne Université, Paris, Ile-de-France, France; [Diehl] Jean Luc, Intensive Care Unit, Hôpital Européen Georges-Pompidou, Paris, Ile-de-France, France; [Dobbelaere] Stephanie, Department of Pneumology, AZ Delta, Roeselare, Belgium; [Durand] Sophie, Institut Jérôme Lejeune, Paris, France; [Mircher] Clotilde, Institut Jérôme Lejeune, Paris, France; [Rebillat] Anne Sophie Carret, Institut Jérôme Lejeune, Paris, France; [Vilaire] Marie E., Institut Jérôme Lejeune, Paris, France; [Eldars] Waleed Mahmoud, Department of Microbiology and Immunology, Faculty of Medicine, Mansoura, Dakahlia, Egypt; [Elgamal] Mohamed A., Chest Department, Faculty of Medicine, Mansoura, Dakahlia, Egypt; [Elnagdy] Marwa H., Department of Biochemistry and Molecular Biology, Faculty of Medicine, Mansoura, Dakahlia, Egypt; [Emiroǧlu] Melike Keser, Department of Pediatric Infectious Diseases, Selçuk Tip Fakültesi, Konya, Turkey; [Erdeniz] Emine Hafize, Division of Pediatric Infectious Diseases, Ondokuz Mayis Üniversitesi, Samsun, Turkey; [Aytekin] Selma Erol, Division of Pediatric Allergy and Immunology, Necmettin Erbakan Üniversitesi, Meram, Konya, Turkey; [Euvrard] Romain, Centre Hospitalier Fleyriat, Bourg-en-Bresse, France; [Evcen] Recep, Department of Internal Medicine, Necmettin Erbakan Üniversitesi, Meram, Konya, Turkey; [Faivre] Laurence Olivier, Centre Hospitalier Universitaire Dijon Bourgogne, Dijon, Bourgogne-Franche-Comte, France; [Fartoukh] Muriel Sarah, Hôpital Tenon, Paris, Ile-de-France, France; [Faure] Morgane, Sorbonne Université, Paris, Ile-de-France, France; [Arquero] Miguel Fernandez, Department of Clinical Immunology, Hospital Clínico San Carlos, Madrid, Madrid, Spain; [Flores] C. M., Genomics Division, Instituto Tecnológico y de Energías Renovables, S.A., Granadilla de Abona, Santa Cruz de Tenerife, Spain, Centro de Investigación Biomédica en Red de Enfermedades Respiratorias, Madrid, Madrid, Spain, Research Unit, Hospital Universitario Nuestra Senora de Candelaria, Santa Cruz de Tenerife, Santa Cruz de Tenerife, Spain, Universidad de la Laguna, San Cristobal de La Laguna, Santa Cruz de Tenerife, Spain, Universidad de Antioquia, Medellin, Antioquia, Colombia; [François] Bruno, CHU de Limoges, Limoges, France; [Fumadó] Victòria Pérez, Department of Pediatrics, Hospital Sant Joan de Déu Barcelona, Esplugues de Llobregat, Barcelona, Spain; [Fusco] Francesca, Institute of Genetics and Biophysics Adriano Buzzati Traverso, Naples, NA, Italy; [Ursini] Matilde Valeria, Institute of Genetics and Biophysics Adriano Buzzati Traverso, Naples, NA, Italy; [Solis] Blanca Garcia, Laboratory of Immunogenetics of Human Diseases, Instituto de Investigación Sanitaria del Hospital Universitario La Paz, Madrid, Madrid, Spain; [Pérez de Diego] Rebeca, Laboratory of Immunogenetics of Human Diseases, Instituto de Investigación Sanitaria del Hospital Universitario La Paz, Madrid, Madrid, Spain; [Van-Den-Rym] Ana Maria, Laboratory of Immunogenetics of Human Diseases, Instituto de Investigación Sanitaria del Hospital Universitario La Paz, Madrid, Madrid, Spain; [Gaussem] Pascale, Department of Hematology, Hôpital Européen Georges-Pompidou, Paris, Ile-de-France, France; [Gil-Herrera] Juana, Instituto de Investigación Sanitaria Gregorio Marañón, Madrid, Madrid, Spain; [Gilardin] Laurent, Bégin Military Hospital; [Alarcon] Monica Girona, Pediatric Intensive Care Unit, Hospital Sant Joan de Déu Barcelona, Esplugues de Llobregat, Barcelona, Spain; [Girona-Alarcon] Monica, Pediatric Intensive Care Unit, Hospital Sant Joan de Déu Barcelona, Esplugues de Llobregat, Barcelona, Spain; [Gök] Funda Yarba, Department of Anesthesiology, Necmettin Erbakan Üniversitesi, Meram, Konya, Turkey; [Yosunkaya] Alper, Department of Anesthesiology, Necmettin Erbakan Üniversitesi, Meram, Konya, Turkey; [González-Montelongo] Rafaela, Genomics Division, Instituto Tecnológico y de Energías Renovables, S.A., Granadilla de Abona, Santa Cruz de Tenerife, Spain; [Íñigo-Campos] Antonio, Genomics Division, Instituto Tecnológico y de Energías Renovables, S.A., Granadilla de Abona, Santa Cruz de Tenerife, Spain; [Lorenzo-Salazar] José Miguel, Genomics Division, Instituto Tecnológico y de Energías Renovables, S.A., Granadilla de Abona, Santa Cruz de Tenerife, Spain; [Munoz-Barrera] Adrián, Genomics Division, Instituto Tecnológico y de Energías Renovables, S.A., Granadilla de Abona, Santa Cruz de Tenerife, Spain; [Guerder] Antoine, AP-HP Assistance Publique - Hopitaux de Paris, Paris, France; [Gul] Yahya, Meram Medical Faculty, Necmettin Erbakan Üniversitesi, Meram, Konya, Turkey; [Güner] Şükrü Nail, Meram Medical Faculty, Necmettin Erbakan Üniversitesi, Meram, Konya, Turkey; [Gut] Marta, Universitat Pompeu Fabra Barcelona, Barcelona, Barcelona, Spain; [Hadjadj] Jérome, Department of Internal Medicine, Hopital Cochin AP-HP, Paris, Ile-de-France, France; [Halwani] Rabih, College of Medicine, Sharjah, United Arab Emirates, Institute for Systems Biology, Seattle, WA, United States; [Hammarström] Lennart L.G., Huddinge, Karolinska Institutet, Stockholm, Stockholms, Sweden; [Hatipoǧlu] Nevin, Pediatric Infectious Diseases Unit, University of Health Sciences, Istanbul, Turkey; [Hernandez-Brito] Elisa, Department of Immunology, Hospital de Gran Canaria Dr. Negrin, Las Palmas de Gran Canaria, Las Palmas, Spain; [Heijmans] Cathérine, Department of Pediatric Hemato-oncology, Hospital de Jolimont, Haine-Saint-Paul, WNA, Belgium; [Holanda] María Soledad, Intensive Care Unit, Hospital Universitario Marqués de Valdecilla, Santander, Cantabria, Spain; [Horcajada] Juan P., Hospital del Mar, Barcelona, Barcelona, Spain; [Hoste] Levi, Department of Pediatric Pulmonology and Immunology, Universitair Ziekenhuis Gent, Ghent, VOV, Belgium; [Hoste] Eric A., Intensive Care Unit, Universitair Ziekenhuis Gent, Ghent, VOV, Belgium; [Humbert] Linda, CHU Lille, Lille, Hauts-de-France, France; [Mordacq] Clémence, CHU Lille, Lille, Hauts-de-France, France; [Thumerelle] Caroline, CHU Lille, Lille, Hauts-de-France, France; [Vuotto] Fanny, CHU Lille, Lille, Hauts-de-France, France; [Iglesias] Alejandro Daniel, Columbia University Irving Medical Center, New York, NY, United States; [Jamme] Matthieu, Centre Hospitalier Intercommunal Poissy-St-Germain-en-Laye, Poissy, France; [Arranz] María Jesús, Fundació Docència i Recerca Mútua Terrassa, Terrassa, Catalonia, Spain; [Jordán] Iolanda, Hospital Sant Joan de Déu Barcelona, Esplugues de Llobregat, Barcelona, Spain; [Jorens] Philippe Germaine, Neonatal Intensive Care Unit, Universitair Ziekenhuis Antwerpen, Edegem, VAN, Belgium; [Kanat] Fikret, Department of Chest Diseases, Selçuk Tip Fakültesi, Konya, Turkey; [Kapakli] Hasan, Division of Allergy and Immunology, Balıkesir Atatürk City Hospital, Balikesir, Balikesir, Turkey; [Kara] Iskender, Division of Critical Careen_US
dc.description.abstractClinical 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. © 2020 American Association for the Advancement of Science. All rights reserved.en_US
dc.identifier.doi10.1126/science.abd4570
dc.identifier.isbn9781844654512
dc.identifier.isbn9781844652044
dc.identifier.issn0036-8075
dc.identifier.issn1095-9203
dc.identifier.issue6515en_US
dc.identifier.pmid32972995
dc.identifier.scopus2-s2.0-85094120212
dc.identifier.scopusqualityQ1
dc.identifier.urihttps://doi.org/10.1126/science.abd4570
dc.identifier.urihttps://hdl.handle.net/20.500.12712/36382
dc.identifier.volume370en_US
dc.identifier.wosqualityQ1
dc.language.isoenen_US
dc.publisherAmerican Association for the Advancement of Scienceen_US
dc.relation.ispartofScienceen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.titleInborn Errors of Type I IFN Immunity in Patients With Life-Threatening COVID-19en_US
dc.typeArticleen_US
dspace.entity.typePublication

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