X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19
Takaki Asano(Rockefeller University), Bertrand Boisson(Inserm), Fanny Onodi(Centre National de la Recherche Scientifique), Daniela Matuozzo(Inserm), Marcela Moncada‐Vélez(Rockefeller University), Majistor Raj Luxman Maglorius Renkilaraj(Inserm), Peng Zhang(Rockefeller University), Laurent Meertens(Centre National de la Recherche Scientifique), Alexandre Bolze(Helix (United States)), Marie Materna(Inserm), Sarantis Korniotis(Inserm), Adrian Gervais(Inserm), Estelle Talouarn(Inserm), Benedetta Bigio(Rockefeller University), Yoann Seeleuthner(Inserm), Kaya Bilgüvar(Yale University), Yu Zhang(National Institute of Allergy and Infectious Diseases), Anna‐Lena Neehus(Inserm), Masato Ogishi(Rockefeller University), Simon J. Pelham(Rockefeller University), Tom Le Voyer(Inserm), Jérémie Rosain(Inserm), Quentin Philippot(Inserm), Pere Soler‐Palacín(Hebron University), Roger Colobrán(Hebron University), Andrea Martín-Nalda(Hebron University), Jacques G. Rivière(Hebron University), Yacine Tandjaoui-Lambiotte(Inserm), Khalil Chaïbi(Inserm), Mohammad Shahrooei(Sina Hospital), Ilad Alavi Darazam(Shahid Beheshti University of Medical Sciences), Nasrin Alipour Olyaei(Sina Hospital), Davood Mansouri(Masih Daneshvari Hospital), Nevin Hatipoğlu(Bakırköy Dr.Sadi Konuk Eğitim ve Araştırma Hastanesi), Figen Palabıyık(Bakırköy Dr.Sadi Konuk Eğitim ve Araştırma Hastanesi), Tayfun Özçelık(Bilkent University), Giuseppe Novelli(University of Rome Tor Vergata), Antonio Novelli(Bambino Gesù Children's Hospital), Giorgio Casari(Vita-Salute San Raffaele University), Alessandro Aiuti(Vita-Salute San Raffaele University), Paola Carrera(Vita-Salute San Raffaele University), Simone Bondesan(Vita-Salute San Raffaele University), Federica Barzaghi(The San Raffaele Telethon Institute for Gene Therapy), Patrizia Rovere-Querini(Vita-Salute San Raffaele University), Cristina Tresoldi(IRCCS Ospedale San Raffaele), José Luis Franco(Universidad de Antioquia), Julian Rojas(Universidad de Antioquia), Luis Felipe Reyes(Universidad de La Sabana), Ingrid G. Bustos(Universidad de La Sabana), Andrés A. Arias(Universidad de Antioquia), Guillaume Morelle(Assistance Publique – Hôpitaux de Paris), Christèle Kyheng(Assistance Publique – Hôpitaux de Paris), Jesús Troya(Hospital Universitario Infanta Leonor), Laura Planas‐Serra(Instituto de Salud Carlos III), Agatha Schlüter(Instituto de Salud Carlos III), Marta Gut(Centre for Genomic Regulation), Aurora Pujol(Institució Catalana de Recerca i Estudis Avançats), Luís M. Allende(Universidad Complutense de Madrid), Carlos Rodríguez‐Gallego(Universidad Fernando Pessoa Canarias), Carlos Flores(Universidad de La Laguna), Óscar Cabrera-Marante(Research Institute Hospital 12 de Octubre), Daniel E. Pleguezuelo(Research Institute Hospital 12 de Octubre), Rebeca Pérez de Diego(Hospital La Paz Institute for Health Research), Sevgi Keleş(Necmettin Erbakan University), Gökhan Aytekіn(Konya Eğitim ve Araştırma Hastanesi), Özge Metin Akcan(Necmettin Erbakan University), Yenan T. Bryceson(Karolinska Institutet), Peter Bergman(Karolinska University Hospital), Petter Brodin(Science for Life Laboratory), Daniel Smole(Karlstad Central Hospital), Smith Rjh(Karolinska University Hospital), Anna-Carin Norlin(Karolinska University Hospital), Tessa M. Campbell(Karolinska Institutet), Laura Covill(Karolinska Institutet), Lennart Hammarström(Karolinska Institutet), Qiang Pan‐Hammarström(Karolinska Institutet), Hassan Abolhassani(Karolinska Institutet), Shrikant Mane(Yale University), Nico Marr, Manar Ata, Fatima Al Ali, Taushif Khan, András N. Spaan(University Medical Center Utrecht), Clifton L. Dalgard(Uniformed Services University of the Health Sciences), Paolo Bonfanti(University of Milano-Bicocca), Andrea Biondi(Azienda Ospedaliera San Gerardo), Sarah Tubiana(Université Claude Bernard Lyon 1), Charles Burdet(Inserm), Robert L. Nussbaum(Invitae (United States)), Amanda Kahn-Kirby(Invitae (United States)), Andrew L. Snow(Uniformed Services University of the Health Sciences), COVID Human Genetic Effort(Inserm), Imagine COVID Group(Inserm), French COVID Cohort Study Group(Inserm), CoV-Contact Cohort(Inserm), Amsterdam UMC Covid-19 Biobank(Inserm), NIAID-USUHS COVID Study Group(Yale University), Jacinta Bustamante(Inserm), Anne Puel(Inserm), Stéphanie Boisson‐Dupuis(Inserm), Shen‐Ying Zhang(Inserm), Vivien Béziat(Inserm), Richard P. Lifton(Centre National de la Recherche Scientifique), Paul Bastard(Inserm), Luigi D. Notarangelo(Inserm), Laurent Abel(Inserm), Helen C. Su(Howard Hughes Medical Institute), Emmanuelle Jouanguy(Inserm), Ali Amara(Centre National de la Recherche Scientifique), Vassili Soumelis(Inserm), Aurélie Cobat(Inserm), Qian Zhang(Inserm), Jean‐Laurent Casanova(Howard Hughes Medical Institute)
Cited by 418Open Access
Abstract
The patients' blood plasmacytoid dendritic cells (pDCs) produce low levels of type I IFNs in response to SARS-CoV-2. Overall, X-linked recessive TLR7 deficiency is a highly penetrant genetic etiology of critical COVID-19 pneumonia, in about 1.8% of male patients below the age of 60 years. Human TLR7 and pDCs are essential for protective type I IFN immunity against SARS-CoV-2 in the respiratory tract.
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