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Title: Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
Author: Zhang, Qian
Dorgham, Karim
Schlüter, Agatha
Quiros Roldan, Eugenia
Novelli, Giuseppe
Planas Serra, Laura
Rodríguez Palmero, Agustí
COVID-STORM Clinicians
COVID Clinicians
Imagine COVID Group
French COVID Cohort Study Group
CoV-Contact Cohort
Amsterdam UMC Covid-19 Biobank
COVID Human Genetic Effort
Keywords: SARS-CoV-2
Issue Date: 23-Oct-2020
Publisher: American Association for the Advancement of Science
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.
Note: Reproducció del document publicat a:
It is part of: Science, 2020, vol. 370, num.6515, p. 422
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Appears in Collections:Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer)
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

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