X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19-Reference-Cited by-同舟云学术

X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19

Published:2021-08-10 Issue:62 Volume:6 Page:
ISSN:2470-9468
Container-title:Science Immunology
language:en
Short-container-title:Sci. Immunol.

Author:

Asano Takaki¹^ORCID,Boisson Bertrand¹²³^ORCID,Onodi Fanny⁴^ORCID,Matuozzo Daniela²³^ORCID,Moncada-Velez Marcela¹^ORCID,Maglorius Renkilaraj Majistor Raj Luxman²³^ORCID,Zhang Peng¹^ORCID,Meertens Laurent⁴^ORCID,Bolze Alexandre⁵^ORCID,Materna Marie²³,Korniotis Sarantis⁶,Gervais Adrian²³^ORCID,Talouarn Estelle²³^ORCID,Bigio Benedetta¹^ORCID,Seeleuthner Yoann²³,Bilguvar Kaya⁷^ORCID,Zhang Yu⁸⁹,Neehus Anna-Lena²³^ORCID,Ogishi Masato¹^ORCID,Pelham Simon J.¹^ORCID,Le Voyer Tom²³^ORCID,Rosain Jérémie²³^ORCID,Philippot Quentin²³,Soler-Palacín Pere¹⁰¹¹¹²^ORCID,Colobran Roger¹²¹³¹⁴^ORCID,Martin-Nalda Andrea¹⁰¹¹¹²^ORCID,Rivière Jacques G.¹⁰¹¹¹²^ORCID,Tandjaoui-Lambiotte Yacine¹⁵¹⁶^ORCID,Chaïbi Khalil¹⁷¹⁸,Shahrooei Mohammad¹⁹²⁰,Darazam Ilad Alavi²¹²²^ORCID,Olyaei Nasrin Alipour¹⁹²⁰^ORCID,Mansouri Davood²³²⁴²⁵,Hatipoğlu Nevin²⁶^ORCID,Palabiyik Figen²⁶^ORCID,Ozcelik Tayfun²⁷,Novelli Giuseppe²⁸^ORCID,Novelli Antonio²⁹,Casari Giorgio³⁰³¹^ORCID,Aiuti Alessandro³⁰³²^ORCID,Carrera Paola³¹,Bondesan Simone³¹^ORCID,Barzaghi Federica³²^ORCID,Rovere-Querini Patrizia³⁰³³,Tresoldi Cristina³⁴,Franco Jose Luis³⁵^ORCID,Rojas Julian³⁵^ORCID,Reyes Luis Felipe³⁶^ORCID,Bustos Ingrid G.³⁶^ORCID,Arias Andres Augusto¹³⁵³⁷^ORCID,Morelle Guillaume³⁸^ORCID,Kyheng Christèle³⁸^ORCID,Troya Jesús³⁹^ORCID,Planas-Serra Laura⁴⁰⁴¹^ORCID,Schlüter Agatha⁴⁰⁴¹^ORCID,Gut Marta⁴²^ORCID,Pujol Aurora⁴⁰⁴¹⁴³^ORCID,Allende Luis M.⁴⁴⁴⁵^ORCID,Rodriguez-Gallego Carlos⁴⁶⁴⁷^ORCID,Flores Carlos⁴⁸⁴⁹⁵⁰⁵¹^ORCID,Cabrera-Marante Oscar⁴⁴^ORCID,Pleguezuelo Daniel E.⁴⁴^ORCID,Pérez de Diego Rebeca⁵²^ORCID,Keles Sevgi⁵³,Aytekin Gokhan⁵⁴^ORCID,Metin Akcan Ozge⁵³,Bryceson Yenan T.⁵⁵^ORCID,Bergman Peter⁵⁶⁵⁷^ORCID,Brodin Petter⁵⁸^ORCID,Smole Daniel⁵⁹^ORCID,Smith C. I. Edvard⁵⁷⁶⁰^ORCID,Norlin Anna-Carin⁵⁷^ORCID,Campbell Tessa M.⁵⁵^ORCID,Covill Laura E.⁵⁵^ORCID,Hammarström Lennart⁶¹^ORCID,Pan-Hammarström Qiang⁶¹^ORCID,Abolhassani Hassan⁶¹⁶²^ORCID,Mane Shrikant⁶³^ORCID,Marr Nico⁶⁴^ORCID,Ata Manar⁶⁴,Al Ali Fatima⁶⁴,Khan Taushif⁶⁴^ORCID,Spaan András N.¹⁶⁵^ORCID,Dalgard Clifton L.⁶⁶⁶⁷^ORCID,Bonfanti Paolo⁶⁸^ORCID,Biondi Andrea⁶⁹,Tubiana Sarah⁷⁰⁷¹^ORCID,Burdet Charles⁷⁰⁷²,Nussbaum Robert⁷³^ORCID,Kahn-Kirby Amanda⁷³^ORCID,Snow Andrew L.⁷⁴^ORCID,Bustamante Jacinta¹²³⁷⁵^ORCID,Puel Anne¹²³^ORCID,Boisson-Dupuis Stéphanie¹²³^ORCID,Zhang Shen-Ying¹²³,Béziat Vivien¹²³^ORCID,Lifton Richard P.⁷⁷⁶,Bastard Paul¹²³^ORCID,Notarangelo Luigi D.⁸⁹^ORCID,Abel Laurent¹²³^ORCID,Su Helen C.⁸⁹⁷⁷^ORCID,Jouanguy Emmanuelle¹²³^ORCID,Amara Ali⁴,Soumelis Vassili⁶⁷⁸^ORCID,Cobat Aurélie¹²³^ORCID,Zhang Qian¹²³^ORCID,Casanova Jean-Laurent¹²³⁷⁹^ORCID,Abel Laurent,Aiuti Alessandro,Al-Muhsen Saleh,Al-Mulla Fahd,Anderson Mark S.,Andreakos Evangelos,Arias Andrés A.,Feldman Hagit Baris,Belot Alexandre,Biggs Catherine M.,Bogunovic Dusan,Bolze Alexandre,Bondarenko Anastasiia,Bousfiha Ahmed A.,Brodin Petter,Bryceson Yenan,Bustamante Carlos D.,Butte Manish J.,Casari Giorgio,Chakravorty Samya,Christodoulou John,Condino-Neto Antonio,Constantinescu Stefan N.,Cooper Megan A.,Dalgard Clifton L.,Desai Murkesh,Drolet Beth A.,El Baghdadi Jamila,Espinosa-Padilla Sara,Fellay Jacques,Flores Carlos,Franco José Luis,Froidure Antoine,Gregersen Peter K.,Haerynck Filomeen,Hagin David,Halwani Rabih,Hammarström Lennart,Heath James R.,Henrickson Sarah E.,Hsieh Elena W.Y.,Husebye Eystein,Imai Kohsuke,Itan Yuval,Jarvis Erich D.,Karamitros Timokratis,Kisand Kai,Ku Cheng-Lung,Lau Yu-Lung,Ling Yun,Lucas Carrie L.,Maniatis Tom,Mansouri Davood,Maródi László,Meyts Isabelle,Milner Joshua D.,Mironska Kristina,Mogensen Trine H.,Morio Tomohiro,Ng Lisa F.P.,Notarangelo Luigi D.,Novelli Antonio,Novelli Giuseppe,O'Farrelly Cliona,Okada Satoshi,Ozcelik Tayfun,Pan-Hammarström Qiang,de Diego Rebeca Perez,Planas Anna M.,Prando Carolina,Pujol Aurora,Quintana-Murci Lluis,Renia Laurent,Resnick Igor,Rodríguez-Gallego Carlos,Sancho-Shimizu Vanessa,Sediva Anna,Seppänen Mikko R.J.,Shahrooei Mohammed,Shcherbina Anna,Slaby Ondrej,Snow Andrew L.,Soler-Palacín Pere,Spaan András N.,Tancevski Ivan,Tangye Stuart G.,Abou Tayoun Ahmad,Ramaswamy Sathishkumar,Turvey Stuart E,Uddin K M Furkan,Uddin Mohammed J.,van de Beek Diederik,Vinh Donald C.,von Bernuth Horst,Zatz Mayana,Zawadzki Pawel,Su Helen C.,Casanova Jean-Laurent,Foti Giuseppe,Bellani Giacomo,Citerio Giuseppe,Contro Ernesto,Pesci Alberto,Valsecchi Maria Grazia,Cazzaniga Marina,Abad Jorge,Accordino Giulia,Achille Cristian,Aguilera-Albesa Sergio,Aguiló-Cucurull Aina,Aiuti Alessandro,Özkan Esra Akyüz,Darazam Ilad Alavi,Roblero Albisures Jonathan Antonio,Aldave Juan C,Ramos Miquel Alfonso,Khan Taj Ali,Aliberti Anna,Nadji Seyed Alireza,Alkan Gulsum,AlKhater Suzan A.,Allardet-Servent Jerome,Allende Luis M,Alonso-Arias Rebeca,Alshahrani Mohammed S,Alsina Laia,Alyanakian Marie-Alexandra,Borrero Blanca Amador,Amoura Zahir,Antolí Arnau,Arrestier Romain,Aubart Mélodie,Auguet Teresa,Avramenko Iryna,Aytekin Gökhan,Azot Axelle,Bahram Seiamak,Bajolle Fanny,Baldanti Fausto,Baldolli Aurélie,Ballester Maite,Feldman Hagit Baris,Barrou Benoit,Barzagh Federica,Basso Sabrina,Bayhan Gulsum Iclal,Belot Alexandre,Bezrodnik Liliana,Bilbao Agurtzane,Blanchard-Rohner Geraldine,Blanco Ignacio,Blandinières Adeline,Blázquez-Gamero Daniel,Bleibtreu Alexandre,Bloomfield Marketa,Bolivar-Prados Mireia,Bondarenko Anastasiia,Borghesi Alessandro,Borie Raphael,Botdhlo-Nevers Elisabeth,Bousfiha Ahmed A,Bousquet Aurore,Boutolleau David,Bouvattier Claire,Boyarchuk Oksana,Bravais Juliette,Briones M. 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A. H (Koos),Brouwer Matthijs C.,Wiersinga W. Joost,Vlaar Alexander P.J.,van de Beek Diederik,Tompkins Miranda F.,Alba Camille,Snow Andrew L.,Hupalo Daniel N.,Rosenberger John,Sukumar Gauthaman,Wilkerson Matthew D.,Zhang Xijun,Lack Justin,Oler Andrew J.,Dobbs Kerry,Delmonte Ottavia M.,Danielson Jeffrey J.,Biondi Andrea,Bettini Laura Rachele,D’Angio Mariella,Beretta Ilaria,Imberti Luisa,Sottini Alessandra,Quaresima Virginia,Quiros-Roldan Eugenia,Rossi Camillo, , , , , , , ,

Affiliation:

1. St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.

2. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.

3. Imagine Institute, University of Paris, Paris, France.

4. Laboratory of Genomes and Cell Biology of Disease, INSERM U944, CNRS UMR7212, University of Paris, Research Institute of Saint-Louis, Saint-Louis Hospital, Paris, France.

5. Helix, San Mateo, CA, USA.

6. University of Paris, INSERM U976, F-75006 Paris, France.

7. Yale Center for Genome Analysis and Department of Genetics, Yale School of Medicine, New Haven, CT, USA.

8. Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, NIH, Bethesda, MD, USA.

9. NIAID Clinical Genomics Program, NIH, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, NIH, Bethesda, MD, USA.

10. Infection in Immunocompromised Pediatric Patients Research Group, Vall d’Hebron Research Institute (VHIR), Vall d’Hebron University Hospital (HUVH), Vall d’Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.

11. Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d’Hebron University Hospital (HUVH), Vall d’Hebron Research Institute (VHIR), Vall d’Hebron Barcelona Hospital Campus, Autonomous University of Barcelona (UAB), Barcelona, Catalonia, Spain.

12. Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain.

13. Diagnostic Immunology Group, Vall d’Hebron Research Institute (VHIR), Vall d’Hebron University Hospital (HUVH), Vall d’Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.

14. Immunology Division, Genetics Department, Vall d’Hebron University Hospital (HUVH), Vall d’Hebron Barcelona Hospital Campus, Autonomous University of Barcelona (UAB), Barcelona, Catalonia, Spain.

15. AP-HP, Avicenne Hospital, Intensive Care Unit, Bobigny, France.

16. INSERM U1272, Hypoxia and Lung, Bobigny, France.

17. Anesthesiology and Critical Care Medicine Department, AP-HP, Avicenne Hospital, Bobigny, France.

18. Common and Rare Kidney Diseases, Sorbonne University, INSERM UMR-S 1155, Paris, France.

19. Specialized Immunology Laboratory of Dr. Shahrooei, Sina Medical Complex, Ahvaz, Iran.

20. Department of Microbiology and Immunology, Clinical and Diagnostic Immunology, KU Leuven, Leuven, Belgium.

21. Infectious Diseases and Tropical Medicine Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

22. Department of Infectious Diseases and Tropical Medicine, Loghman Hakim Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

23. Department of Clinical Immunology and Infectious Diseases, National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

24. 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.

25. Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

26. Pediatric Infectious Diseases Unit, Bakirkoy Dr. Sadi Konuk Training and Research Hospital, University of Health Sciences, Istanbul, Turkey.

27. Department of Molecular Biology and Genetics, University of Bilkent, Bilkent-Ankara, Turkey.

28. Department of Biomedicine and Prevention, University of Rome “Tor Vergata,” Rome, and Neuromed Institute, IRCCS, Pozzilli (IS), Italy.

29. Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.

30. Vita-Salute San Raffaele University, Milan, Italy.

31. Clinical Genomics, IRCCS San Raffaele Scientific Institute, Milan, Italy.

32. San Raffaele Telethon Institute for Gene Therapy (SR-Tiget) and Pediatric Immunohematology Unit and BMT Program, IRCCS San Raffaele Scientific Institute, Milan, Italy.

33. Division of Immunology, Transplantation and Infectious Diseases, IRCCS San Raffaele Scientific Institute, Milan, Italy.

34. Molecular Hematology Unit, IRCCS Ospedale San Raffaele, Milan, Italy.

35. Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia UdeA, Medellín, Colombia.

36. Universidad de La Sabana, Chia, Colombia.

37. School of Microbiology, University of Antioquia UdeA, Medellín, Colombia

38. Department of General Pediatrics, Hôpital Bicêtre, AP-HP, University of Paris Saclay, Le Kremlin-Bicêtre, France.

39. Department of Internal Medicine, Infanta Leonor University Hospital, Madrid, Spain.

40. Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Spain.

41. Center for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.

42. CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Baldiri Reixac 4, 08028 Barcelona, Spain.

43. Catalan Institution of Research and Advanced Studies (ICREA), Barcelona, Spain.

44. Immunology Department, University Hospital 12 de Octubre, Research Institute Hospital 12 de Octubre (I+12), Madrid, Spain.

45. Complutense University, Madrid, Spain.

46. Department of Immunology, University Hospital of Gran Canaria Dr. Negrín, Canarian Health System, Las Palmas de Gran Canaria, Spain.

47. Department of Clinical Sciences, University of Fernando Pessoa Canarias, Las Palmas de Gran Canaria, Spain.

48. Genomics Division, Institute of Technology and Renewable Energies (ITER), Santa Cruz de Tenerife, Spain.

49. CIBER de Enfermedades Respiratorias, Health Institute of Carlos III, Madrid, Spain

50. Research Unit, University Hospital of N.S. de Candelaria, Santa Cruz de Tenerife, Spain.

51. Institute of Biomedical technologies (ITB), University of La Laguna, San Cristóbal de La Laguna, Spain.

52. Laboratory of Immunogenetics of Human Diseases, IdiPAZ Institute for Health Research, University Hospital “La Paz”, Madrid, Spain.

53. Necmettin Erbakan University, Meram Medical Faculty, Division of Pediatric Allergy and Immunology, Konya, Turkey.

54. Konya City Hospital, Division of Allergy and Immunology, Konya, Turkey.

55. Centre for Hematology and Regenerative Medicine, Department of Medicine, Karolinska Institute, Stockholm, Sweden.

56. Department of Laboratory Medicine, Division of Clinical Microbiology, Karolinska Institute, Stockholm, Sweden.

57. Immunodeficiency Unit, Infectious Disease Clinic, Karolinska University Hospital, Stockholm, Sweden.

58. Science for Life Laboratory, Department of Women’s and Children’s Health, Karolinska Institute, Solna, Sweden.

59. Central Hospital-Anesthesia and Intensive Care Unit, Karlstad, Sweden.

60. Department of Laboratory Medicine, Division of Biomolecular and Cellular Medicine, Karolinska Institute, Stockholm, Sweden.

61. Department of Biosciences and Nutrition, Karolinska Institute, Stockholm, Sweden.

62. Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran.

63. Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.

64. Department of Immunology, Research Branch, Sidra Medicine, Doha, Qatar.

65. Department of Medical Microbiology, University Medical Center Utrecht, Utrecht, Netherlands.

66. Department of Anatomy, Physiology and Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD, USA.

67. American Genome Center, Uniformed Services University of the Health Sciences, Bethesda, MD, USA.

68. Department of Infectious Diseases, San Gerardo Hospital–University of Milano-Bicocca, Monza, Italy.

69. Pediatric Department and Centro Tettamanti-European Reference Network PaedCan, EuroBloodNet, MetabERN, University of Milano, Bicocca-Fondazione MBBM, Ospedale San Gerardo, Monza, Italy.

70. Centre d’Investigation Clinique, INSERM CIC 1425, Paris, France.

71. Hôpital Bichat Claude Bernard, AP-HP, Paris, France.

72. Université de Paris, IAME, INSERM UMR 1137, Paris, France.

73. Invitae, San Francisco, CA, USA.

74. Department of Pharmacology and Molecular Therapeutics, Uniformed Services University of the Health Sciences, Bethesda, MD, USA.

75. Center for the Study of Primary Immunodeficiencies, Necker Hospital for Sick Children, AP-HP, Paris, France.

76. Laboratory of Genetics and Genomics, Rockefeller University, New York, NY, USA.

77. Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

78. AP-HP, Hôpital Saint-Louis, Department of Immunology-Histocompatibility, 75010 Paris, France.

79. Howard Hughes Medical Institute, New York, NY, USA.

Abstract

TLR7 and plasmacytoid dendritic cells are essential for type I IFN–dependent immunity to SARS-CoV-2 in the lungs.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

General Medicine,Immunology

Reference79 articles.

1. A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection

2. Life-Threatening COVID-19: Defective Interferons Unleash Excessive Inflammation

3. Age-specific mortality and immunity patterns of SARS-CoV-2

4. Considering how biological sex impacts immune responses and COVID-19 outcomes

5. Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency

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