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

Qian Zhang 1 Paul Bastard 2, 3 Zhiyong Liu Jérémie Le Pen Marcela Moncada-Velez Jie Chen Masato Ogishi Ira Sabli Stephanie Hodeib Cecilia Korol Jérémie Rosain Kaya Bilguvar Junqiang Ye Alexandre Bolze Benedetta Bigio Rui Yang Andrés Augusto Arias Qinhua Zhou Yu Zhang Fanny Onodi Sarantis Korniotis Léa Karpf 4 Quentin Philippot Marwa Chbihi Lucie Bonnet-Madin 5 Karim Dorgham 6 Nikaïa Smith 7 William Schneider Brandon Razooky Hans-Heinrich Hoffmann Eleftherios Michailidis Leen Moens Ji Eun Han Lazaro Lorenzo Lucy Bizien Philip Meade Anna-Lena Neehus Aileen Camille Ugurbil Aurélien Corneau 8, 9 Gaspard Kerner Peng Zhang Franck Rapaport Yoann Seeleuthner Jeremy Manry Cecile Masson 2 Yohann Schmitt Agatha Schlüter Tom Le Voyer Taushif Khan Juan Li Jacques Fellay Lucie Roussel Mohammad Shahrooei Mohammed Alosaimi Davood Mansouri Haya Al-Saud Fahd Al-Mulla Feras Almourfi Saleh Zaid Al-Muhsen Fahad Alsohime Saeed Al Turki Rana Hasanato Diederik van de Beek Andrea Biondi Laura Rachele Bettini Mariella D’angio Paolo Bonfanti Luisa Imberti Alessandra Sottini Simone Paghera Eugenia Quiros-Roldan Camillo Rossi Andrew Oler Miranda Tompkins Camille Alba Isabelle Vandernoot Jean-Christophe Goffard Guillaume Smits Isabelle Migeotte Filomeen Haerynck Pere Soler-Palacin Andrea Martin-Nalda Roger Colobran Pierre-Emmanuel Morange 10 Sevgi Keles Fatma Çölkesen Tayfun Ozcelik Kadriye Kart Yasar Sevtap Senoglu Şemsi Nur Karabela Carlos Rodríguez Gallego Giuseppe Novelli Sami Hraiech Yacine Tandjaoui-Lambiotte Xavier Duval 11, 12 Cédric Laouénan 11, 12 Christelle Tual 13 Andrew Snow Clifton Dalgard Joshua Milner Donald Vinh Trine Mogensen Nico Marr András Spaan Bertrand Boisson Stéphanie Boisson-Dupuis Jacinta Bustamante Anne Puel Michael Ciancanelli Isabelle Meyts Tom Maniatis Vassili Soumelis Ali Amara Michel Nussenzweig Adolfo García-Sastre Florian Krammer Aurora Pujol Darragh Duffy 7 Richard Lifton Shen-Ying Zhang Guy Gorochov Vivien Béziat Emmanuelle Jouanguy Vanessa Sancho-Shimizu Charles Rice Laurent Abel Luigi Notarangelo Aurélie Cobat Helen Su Jean-Laurent Casanova 2, 1, 3, *
Abstract : Clinical outcome upon infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) ranges from silent infection to lethal coronavirus disease 2019 (COVID-19). We have found an enrichment in rare variants predicted to be loss-of-function (LOF) at the 13 human loci known to govern Toll-like receptor 3 (TLR3)– and interferon regulatory factor 7 (IRF7)–dependent type I interferon (IFN) immunity to influenza virus in 659 patients with life-threatening COVID-19 pneumonia relative to 534 subjects with asymptomatic or benign infection. By testing these and other rare variants at these 13 loci, we experimentally defined LOF variants underlying autosomal-recessive or autosomal-dominant deficiencies in 23 patients (3.5%) 17 to 77 years of age. We show that human fibroblasts with mutations affecting this circuit are vulnerable to SARS-CoV-2. Inborn errors of TLR3- and IRF7-dependent type I IFN immunity can underlie life-threatening COVID-19 pneumonia in patients with no prior severe infection.
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Qian Zhang, Paul Bastard, Zhiyong Liu, Jérémie Le Pen, Marcela Moncada-Velez, et al.. Inborn errors of type I IFN immunity in patients with life-threatening COVID-19. Science, American Association for the Advancement of Science, 2020, 370 (6515), pp.eabd4570. ⟨10.1126/science.abd4570⟩. ⟨hal-02950982⟩

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