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

Asano, Takaki; Boisson, Bertrand; Onodi, Fanny; Matuozzo, Daniela; Moncada‐Vélez, Marcela; Raj Luxman Maglorius Renkilaraj, Majistor; Zhang, Peng; Meertens, Laurent; Bolze, Alexandre; Materna, Marie; Korniotis, Sarantis; Gervais, Adrian; Talouarn, Estelle; Bigio, Benedetta; Seeleuthner, Yoann; Bilgüvar, Kaya; Zhang, Yu; Neehus, Anna‐Lena; Ogishi, Masato; J. Pelham, Simon; Le Voyer, Tom; Rosain, Jérémie; Philippot, Quentin; Soler‐Palacín, Pere; Colobrán, Roger; Martín-Nalda, Andrea; G. Rivière, Jacques; Tandjaoui-Lambiotte, Yacine; Chaïbi, Khalil; Shahrooei, Mohammad; Alavi Darazam, Ilad; Alipour Olyaei, Nasrin; Mansouri, Davood; Hatipoğlu, Nevin; Palabıyık, Figen; Özçelık, Tayfun; Novelli, Giuseppe; Novelli, Antonio; Casari, Giorgio; Aiuti, Alessandro; Carrera, Paola; Bondesan, Simone; Barzaghi, Federica; Rovere-Querini, Patrizia; Tresoldi, Cristina; Luis Franco, José; Rojas, Julian; Felipe Reyes, Luis; G. Bustos, Ingrid; A. Arias, Andrés; Morelle, Guillaume; Kyheng, Christèle; Troya, Jesús; Planas‐Serra, Laura; Schlüter, Agatha; Gut, Marta; Pujol, Aurora; M. Allende, Luís; Rodríguez‐Gallego, Carlos; Flores, Carlos; Cabrera-Marante, Óscar; E. Pleguezuelo, Daniel; Pérez de Diego, Rebeca; Keleş, Sevgi; Aytekіn, Gökhan; Metin Akcan, Özge; T. Bryceson, Yenan; Bergman, Peter; Brodin, Petter; Smole, Daniel; Rjh, Smith; Norlin, Anna-Carin; M. Campbell, Tessa; Covill, Laura; Hammarström, Lennart; Pan‐Hammarström, Qiang; Abolhassani, Hassan; Mane, Shrikant; Marr, Nico; Ata, Manar; Al Ali, Fatima; Khan, Taushif; N. Spaan, András; L. Dalgard, Clifton; Bonfanti, Paolo; Biondi, Andrea; Tubiana, Sarah; Burdet, Charles; L. Nussbaum, Robert; Kahn-Kirby, Amanda; L. Snow, Andrew; Human Genetic Effort, COVID; COVID Group, Imagine; COVID Cohort Study Group, French; Cohort, CoV-Contact; UMC Covid-19 Biobank, Amsterdam; COVID Study Group, NIAID-USUHS; Bustamante, Jacinta; Puel, Anne; Boisson‐Dupuis, Stéphanie; Zhang, Shen‐Ying; Béziat, Vivien; P. Lifton, Richard; Bastard, Paul; D. Notarangelo, Luigi; Abel, Laurent; C. Su, Helen; Jouanguy, Emmanuelle; Amara, Ali; Soumelis, Vassili; Cobat, Aurélie; Zhang, Qian; Casanova, Jean‐Laurent

doi:10.1126/sciimmunol.abl4348

Public

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

Published in Science Immunology • Aug 10, 2021

Authors:

Takaki Asano

Bertrand Boisson

Fanny Onodi

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...

Subject

TLR7

Pneumonia

Immunology

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