Details

Autor(en) / Beteiligte

• Zhang, Qian
• Bastard, Paul
• Liu, Zhiyong
• Moncada-Velez, Marcela
• Chen, Jie
• Ogishi, Masato
• Hodeib, Stephanie
• Korol, Cecilia
• Rosain, Jérémie
• Bilguvar, Kaya
• Ye, Junqiang
• Bigio, Benedetta
• Zhang, Yu
• Korniotis, Sarantis
• Philippot, Quentin
• Chbihi, Marwa
• Bonnet-Madin, Lucie
• Schneider, William M
• Razooky, Brandon S
• Hoffmann, Hans-Heinrich
• Moens, Leen
• Han, Ji Eun
• Lorenzo, Lazaro
• Bizien, Lucy
• Meade, Philip
• Corneau, Aurélien
• Kerner, Gaspard
• Zhang, Peng
• Rapaport, Franck
• Seeleuthner, Yoann
• Manry, Jeremy
• Masson, Cecile
• Schmitt, Yohann
• Schlüter, Agatha
• Le Voyer, Tom
• Khan, Taushif
• Li, Juan
• Fellay, Jacques
• Roussel, Lucie
• Shahrooei, Mohammad
• Mansouri, Davood
• Al-Saud, Haya
• Al-Mulla, Fahd
• Almourfi, Feras
• Alsohime, Fahad
• Al Turki, Saeed
• Hasanato, Rana
• Biondi, Andrea
• Bettini, Laura Rachele
• Bonfanti, Paolo
• Paghera, Simone
• Oler, Andrew J
• Tompkins, Miranda F
• Alba, Camille
• Goffard, Jean-Christophe
• Smits, Guillaume
• Migeotte, Isabelle
• Haerynck, Filomeen
• Soler-Palacin, Pere
• Martin-Nalda, Andrea
• Colobran, Roger
• Çölkesen, Fatma
• Ozcelik, Tayfun
• Yasar, Kadriye Kart
• Senoglu, Sevtap
• Rodríguez-Gallego, Carlos
• Novelli, Giuseppe
• Hraiech, Sami
• Duval, Xavier
• Laouénan, Cédric
• Snow, Andrew L
• Dalgard, Clifton L
• Milner, Joshua D
• Vinh, Donald C
• Mogensen, Trine H
• Spaan, András N
• Boisson, Bertrand
• Boisson-Dupuis, Stéphanie
• Puel, Anne
• Ciancanelli, Michael J
• Meyts, Isabelle
• Maniatis, Tom
• Soumelis, Vassili
• Amara, Ali
• Nussenzweig, Michel
• García-Sastre, Adolfo
• Krammer, Florian
• Pujol, Aurora
• Duffy, Darragh
• Lifton, Richard P
• Zhang, Shen-Ying
• Gorochov, Guy
• Béziat, Vivien
• Jouanguy, Emmanuelle
• Rice, Charles M
• Abel, Laurent
• Notarangelo, Luigi D
• Cobat, Aurélie
• Su, Helen C
• Casanova, Jean-Laurent

Titel

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

Ist Teil von

• Science (American Association for the Advancement of Science), 2020-10, Vol.370 (6515)

Ort / Verlag

United States: American Association for the Advancement of Science (AAAS)

Erscheinungsjahr

2020

Link zum Volltext

Quelle

American Association for the Advancement of Science

Beschreibungen/Notizen

• 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.