Research ArticleCoronavirus

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

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Science  24 Sep 2020:
eabd4570
DOI: 10.1126/science.abd4570

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History: 
  • Received for publication June 22, 2020
  • Accepted for publication September 16, 2020
  • .

Author Information

  1. Qian Zhang1,
  2. Paul Bastard2,3,*,
  3. Zhiyong Liu1,*,
  4. Jérémie Le Pen4,*,
  5. Marcela Moncada-Velez1,*,
  6. Jie Chen1,*,
  7. Masato Ogishi1,*,
  8. Ira K. D. Sabli5,*,
  9. Stephanie Hodeib5,*,
  10. Cecilia Korol2,*,
  11. Jérémie Rosain2,3,*,
  12. Kaya Bilguvar6,*,
  13. Junqiang Ye7,*,
  14. Alexandre Bolze8,*,
  15. Benedetta Bigio1,*,
  16. Rui Yang1,*,
  17. Andrés Augusto Arias1,9,10,*,
  18. Qinhua Zhou1,*,
  19. Yu Zhang11,12,*,
  20. Fanny Onodi13,
  21. Sarantis Korniotis13,
  22. Léa Karpf13,
  23. Quentin Philippot2,3,
  24. Marwa Chbihi2,3,
  25. Lucie Bonnet-Madin14,
  26. Karim Dorgham15,
  27. Nikaïa Smith16,
  28. William M. Schneider4,
  29. Brandon S. Razooky4,
  30. Hans-Heinrich Hoffmann4,
  31. Eleftherios Michailidis4,
  32. Leen Moens17,
  33. Ji Eun Han1,
  34. Lazaro Lorenzo2,3,
  35. Lucy Bizien2,3,
  36. Philip Meade18,
  37. Anna-Lena Neehus2,3,
  38. Aileen Camille Ugurbil1,
  39. Aurélien Corneau19,
  40. Gaspard Kerner2,3,
  41. Peng Zhang1,
  42. Franck Rapaport1,
  43. Yoann Seeleuthner2,3,
  44. Jeremy Manry2,3,
  45. Cecile Masson20,
  46. Yohann Schmitt20,
  47. Agatha Schlüter21,
  48. Tom Le Voyer2,3,
  49. Taushif Khan22,
  50. Juan Li1,
  51. Jacques Fellay23,24,25,
  52. Lucie Roussel26,
  53. Mohammad Shahrooei27,28,
  54. Mohammed F. Alosaimi29,
  55. Davood Mansouri30,31,32,
  56. Haya Al-Saud33,
  57. Fahd Al-Mulla34,
  58. Feras Almourfi33,
  59. Saleh Zaid Al-Muhsen35,
  60. Fahad Alsohime29,
  61. Saeed Al Turki36,37,
  62. Rana Hasanato29,
  63. Diederik van de Beek38,
  64. Andrea Biondi39,
  65. Laura Rachele Bettini39,
  66. Mariella D’Angio39,
  67. Paolo Bonfanti40,
  68. Luisa Imberti41,
  69. Alessandra Sottini41,
  70. Simone Paghera41,
  71. Eugenia Quiros-Roldan42,
  72. Camillo Rossi43,
  73. Andrew J. Oler44,
  74. Miranda F. Tompkins45,
  75. Camille Alba45,
  76. Isabelle Vandernoot46,
  77. Jean-Christophe Goffard47,
  78. Guillaume Smits46,
  79. Isabelle Migeotte48,
  80. Filomeen Haerynck49,
  81. Pere Soler-Palacin50,
  82. Andrea Martin-Nalda50,
  83. Roger Colobran51,
  84. Pierre-Emmanuel Morange52,
  85. Sevgi Keles53,
  86. Fatma Çölkesen54,
  87. Tayfun Ozcelik55,
  88. Kadriye Kart Yasar56,
  89. Sevtap Senoglu56,
  90. Şemsi Nur Karabela56,
  91. Carlos Rodríguez Gallego57,58,
  92. Giuseppe Novelli59,
  93. Sami Hraiech60,
  94. Yacine Tandjaoui-Lambiotte61,62,
  95. Xavier Duval63,64,
  96. Cédric Laouénan63,64,65,
  97. COVID-STORM Clinicians,
  98. COVID Clinicians,
  99. Imagine COVID Group,
  100. French COVID Cohort Study Group,
  101. CoV-Contact Cohort,
  102. Amsterdam UMC Covid-19,
  103. Biobank,
  104. COVID Human Genetic Effort,
  105. NIAID-USUHS,
  106. TAGC COVID Immunity Group,
  107. Andrew L. Snow66,
  108. Clifton L. Dalgard45,67,
  109. Joshua Milner68,
  110. Donald C. Vinh26,
  111. Trine H. Mogensen69,70,
  112. Nico Marr22,71,
  113. András N. Spaan1,72,
  114. Bertrand Boisson1,2,3,
  115. Stéphanie Boisson-Dupuis1,2,3,
  116. Jacinta Bustamante1,2,3,73,
  117. Anne Puel1,2,3,
  118. Michael Ciancanelli1,74,
  119. Isabelle Meyts17,75,
  120. Tom Maniatis7,76,
  121. Vassili Soumelis13,77,
  122. Ali Amara14,
  123. Michel Nussenzweig78,79,
  124. Adolfo García-Sastre18,80,81,82,
  125. Florian Krammer18,
  126. Aurora Pujol21,
  127. Darragh Duffy16,
  128. Richard Lifton83,84,85,,
  129. Shen-Ying Zhang1,2,3,,
  130. Guy Gorochov15,,
  131. Vivien Béziat1,2,3,,
  132. Emmanuelle Jouanguy1,2,3,,
  133. Vanessa Sancho-Shimizu5,,
  134. Charles M. Rice4,,
  135. Laurent Abel1,2,3,,
  136. Luigi D. Notarangelo11,12,§,
  137. Aurélie Cobat1,2,3,§,
  138. Helen C. Su11,12,§,
  139. Jean-Laurent Casanova1,2,3,79,86,§,
  1. 1St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA. 2Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France. 3University of Paris, Imagine Institute, Paris, France. 4Laboratory of Virology and Infectious Disease, The Rockefeller University, New York, NY, USA. 5Department of Paediatric Infectious Diseases & Virology, Imperial College London, Norfolk Place, London, UK. 6Yale Center for Genome Analysis and Department of Genetics, Yale School of Medicine, New Haven, CT, USA. 7Zukerman Mind Brain Behavior Institute, Columbia University, New York, NY, USA. 8Helix, San Mateo, CA, USA. 9Primary Immunodeficiencies Group, University of Antioquia UdeA, Medellin, Colombia. 10School of Microbiology, University of Antioquia UdeA, Medellin, Colombia. 11Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, NIH, Bethesda, MD, USA. 12NIAID Clinical Genomics Program, National Institutes of Health, Bethesda, MD, USA. 13Université de Paris, Institut de Recherche Saint-Louis, INSERM U976, Hôpital Saint-Louis, 75010 Paris, France. 14Laboratory of Genomes & Cell Biology of Disease, INSERM U944, CNRS UMR 7212, Université de Paris, Institut de Recherche Saint-Louis, Hôpital Saint-Louis, Paris, France. 15Sorbonne Université, Inserm, Centre d'immunologie et des maladies infectieuses-Paris (CIMI PARIS), AP-HP Hôpital Pitié-Salpêtrière, Paris, France. 16Translational Immunology Lab, Institut Pasteur, Paris, France. 17Laboratory for Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, Department of Pediatrics, University Hospitals Leuven, KU Leuven, Belgium. 18Department of Microbiology, Icahn School of Medicine at Mount Sinai, New York, NY, USA. 19Sorbonne Université, UMS037, PASS, Plateforme de cytométrie de la Pitié-Salpêtrière CyPS, F-75013 Paris, France. 20Bioinformatics Platform, Structure Fédérative de Recherche Necker, INSERM UMR1163, Université de Paris, Imagine Institute, Paris, France. 21Neurometabolic Diseases Laboratory, IDIBELL-Hospital Duran i Reynals, CIBERER U759, and Catalan Institution of Research and Advanced Studies (ICREA), Barcelona, Spain. 22Department of Immunology, Research Branch, Sidra Medicine, Doha, Qatar. 23School of Life sciences, Ecole Polytechnique Fédérale de Lausanne, Lausanne, Switzerland. 24Precision Medicine Unit, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland. 25Swiss Institue of Bioinformatics, Lausanne, Switzerland. 26Infectious Disease Susceptibility Program, Research Institute-McGill University Health Centre, Montréal, Québec, Canada. 27Specialized Immunology Laboratory of Dr. Shahrooei, Sina Medical Complex, Ahvaz, Iran. 28Department of Microbiology and Immunology, Clinical and Diagnostic Immunology, KU Leuven, Leuven, Belgium. 29Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia. 30Department of Clinical Immunology and Infectious Diseases, National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran. 31The Clinical Tuberculosis and Epidemiology Research Center, National Research Institute of, Tuberculosis and Lung Diseases (NRITLD), Masih Daneshvari Hospital, Shahid Beheshti, University of Medical Sciences, Tehran, Iran. 32Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti, Iran. 33National Center of Genomics Technology, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia. 34Dasman Diabetes Institute, Department of Genetics and Bioinformatics, Kuwait. 35Immunology Research Laboratory, Department of Pediatrics, College of Medicine and King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia. 36Translational Pathology, Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Misery of National Guard- Health Affairs, Riyadh, Saudi Arabia. 37Cancer & Blood Research, King Abdullah International Medical Research Center, Riyadh, KSA. 38Amsterdam UMC, Department of Neurology, Amsterdam Neuroscience, Amsterdam, Netherlands. 39Pediatric Departement and Centro Tettamanti-European Reference Network PaedCan, EuroBloodNet, MetabERN-University of Milano-Bicocca-Fondazione MBBM-Ospedale, San Gerardo, Monza, Italy. 40Department of Infectious Diseases, San Gerardo Hospital - University of Milano-Bicocca, Monza, Italy. 41CREA Laboratory, Diagnostic Laboratory, ASST Spedali Civili di Brescia, Brescia, Italy. 42Department of Infectious and Tropical Diseases, University of Brescia and ASST Spedali di Brescia, Brescia, Italy. 43Chief Medical Officer, ASST Spedali Civili di Brescia, Brescia, Italy. 44Bioinformatics and Computational Biosciences Branch, Office of Cyber Infrastructure and Computational Biology, NIAID, NIH, Bethesda, MD, USA. 45PRIMER, Uniformed Services University of the Health Sciences, Bethesda, MD, USA. 46Center of Human Genetics, Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium. 47Department of Internal Medicine, Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium. 48Fonds de la Recherche Scientifique (FNRS) and Center of Human Genetics, Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium. 49Department of Paediatric Immunology and Pulmonology, Centre for Primary Immunodeficiency Ghent (CPIG), PID research lab, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, Ghent, Belgium. 50Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d’Hebron, Vall d'Hebron Research Institute, Vall d’Hebron Barcelona Hospital Campus. Universitat Autònoma de Barcelona (UAB). Barcelona, Catalonia, Spain. 51Immunology Division, Genetics Department. Hospital Universitari Vall d’Hebron. Vall d'Hebron Research Institute. Vall d’Hebron Barcelona Hospital Campus. Universitat Autònoma de Barcelona (UAB). Barcelona, Catalonia, Spain. 52Aix Marseille Univ, INSERM, INRAE, C2VN, CHU Timone, Marseille, France. 53Necmettin Erbakan University, Meram Medical Faculty, Division of Pediatric Allergy and Immunology, Konya, Turkey. 54Department of Infectious Diseases and Clinical Microbiology, Konya Training and Research Hospital, Konya, Turkey. 55Bilkent University, Department of Molecular Biology and Genetics, Bilkent - Ankara 06800, Turkey. 56Departments of Infectious Diseases and Clinical Microbiology, Bakirkoy Dr. Sadi Konuk Training and Research Hospital, University of Health Sciences, Istanbul, Turkey. 57Department of Immunology, Hospital Universitario de G.C. Dr. Negrín, Canarian Health System, Las Palmas de Gran Canaria, Spain. 58University Fernando Pessoa Canarias, Las Palmas de Gran Canaria, Spain. 59Department of Biomedicine and Prevention, University of Rome "Tor Vergata", Rome, Italy. 60Intensive Care Unit, AP-HM, Marseille, France. 61Avicenne Hospital Intensive Care Unit, APHP, Bobigny, INSERM U1272 Hypoxia & Lung, Paris, France. 62PH Réanimation CHU Avicenne, Bobigny, INSERM U1272 Hypoxie & Poumon, Paris, France. 63Université de Paris, IAME UMR-S 1137, INSERM, Paris, France, EU. 64Inserm CIC 1425, Paris, France. 65AP-HP, Département Epidémiologie Biostatistiques et Recherche Clinique, Hôpital Bichat, Paris, France, EU. 66Department of Pharmacology & Molecular Therapeutics, Uniformed Services University of the Health Sciences, Bethesda, MD, USA. 67Department of Anatomy, Physiology & Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD, USA. 68Division of Pediatric Allergy, Immunology and Rheumatology, Columbia University, New York, USA. 69Department of Infectious Diseases, Aarhus University Hospital, Skejby, Denmark. 70Department of Biomedicine, Aarhus University, Denmark. 71College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar. 72Department of Medical Microbiology, University Medical Center Utrecht, Utrecht, Netherlands. 73Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, 75015 Paris, France. 74Turnstone Biologics, New York, NY, USA. 75Department of Pediatrics, University Hospitals Leuven, KU Leuven, Belgium. 76New York Genome Center, New York, NY, USA. 77Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Saint-Louis, Laboratoire d'Immunologie, Paris, France. 78Laboratory of Molecular Immunology, Rockefeller University, New York, NY, USA. 79Howard Hughes Medical Institute, New York, NY, USA. 80Department of Medicine, Division of Infectiosu Diseases, Icahn School of Medicine at Mount Sinai, New York, NY, USA. 81Global Health and Emerging Pathogens Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA. 82The Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA. 83Laboratory of Genetics and Genomics, The Rockefeller University, New York, NY, USA. 84Department of Genetics, Yale University School of Medicine, New Haven, CT, USA. 85Yale Center for Genome Analysis, Yale School of Medicine, New Haven, CT, USA. 86Pediatric Hematology and Immunology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France.
  1. Corresponding author. Email: casanova{at}rockefeller.edu
  1. * These authors contributed equally to this work.

  2. These authors contributed equally to this work.

  3. § These authors contributed equally to this work.

  • All collaborators and their affiliations appear at the end of this paper.

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