Article
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19.
Science immunology - 19 Aug 2021
Asano Takaki, Boisson Bertrand, Onodi Fanny, Matuozzo Daniela, Moncada-Velez Marcela, Maglorius Renkilaraj Majistor Raj Luxman, Zhang Peng, Meertens Laurent, Bolze Alexandre, Materna Marie, Korniotis Sarantis, Gervais Adrian, Talouarn Estelle, Bigio Benedetta, Seeleuthner Yoann, Bilguvar Kaya, Zhang Yu, Neehus Anna-Lena, Ogishi Masato, Pelham Simon J, Le Voyer Tom, Rosain Jérémie, Philippot Quentin, Soler-Palacín Pere, Colobran Roger, Martin-Nalda Andrea, Rivière Jacques G, Tandjaoui-Lambiotte Yacine, Chaïbi Khalil, Shahrooei Mohammad, Darazam Ilad Alavi, Olyaei Nasrin Alipour, Mansouri Davood, Hatipoğlu Nevin, Palabiyik Figen, Ozcelik Tayfun, Novelli Giuseppe, Novelli Antonio, Casari Giorgio, Aiuti Alessandro, Carrera Paola, Bondesan Simone, Barzaghi Federica, Rovere-Querini Patrizia, Tresoldi Cristina, Franco Jose Luis, Rojas Julian, Reyes Luis Felipe, Bustos Ingrid G, Arias Andres Augusto, Morelle Guillaume, Christèle Kyheng, Troya Jesús, Planas-Serra Laura, Schlüter Agatha, Gut Marta, Pujol Aurora, Allende Luis M, Rodriguez-Gallego Carlos, Flores Carlos, Cabrera-Marante Oscar, Pleguezuelo Daniel E, de Diego Rebeca Pérez, Keles Sevgi, Aytekin Gokhan, Akcan Ozge Metin, Bryceson Yenan T, Bergman Peter, Brodin Petter, Smole Daniel, Smith C I Edvard, Norlin Anna-Carin, Campbell Tessa M, Covill Laura E, Hammarström Lennart, Pan-Hammarström Qiang, Abolhassani Hassan, Mane Shrikant, Marr Nico, Ata Manar, Al Ali Fatima, Khan Taushif, Spaan András N, Dalgard Clifton L, Bonfanti Paolo, Biondi Andrea, Tubiana Sarah, Burdet Charles, Nussbaum Robert, Kahn-Kirby Amanda, Snow Andrew L, Bustamante Jacinta, Puel Anne, Boisson-Dupuis Stéphanie, Zhang Shen-Ying, Béziat Vivien, Lifton Richard P, Bastard Paul, Notarangelo Luigi D, Abel Laurent, Su Helen C, Jouanguy Emmanuelle, Amara Ali, Soumelis Vassili, Cobat Aurélie, Zhang Qian, Casanova Jean-Laurent
Abstract excerpt
Autosomal inborn errors of type I IFN immunity and autoantibodies against these cytokines underlie at least 10% of critical COVID-19 pneumonia cases. We report very rare, biochemically deleterious X-linked TLR7 variants in 16 unrelated male individuals aged 7 to 71 years (mean: 36.7 years) from a cohort of 1,202 male patients aged 0.5 to 99 years (mean: 52.9 years) with unexplained critical COVID-19 pneumonia....
