Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F20%3A10418467" target="_blank" >RIV/00216208:11130/20:10418467 - isvavai.cz</a>
Alternative codes found
RIV/00064203:_____/20:10418467 RIV/00064190:_____/20:N0000111
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=aNyXV5DZEN" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=aNyXV5DZEN</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1126/science.abd4570" target="_blank" >10.1126/science.abd4570</a>
Alternative languages
Result language
angličtina
Original language name
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
Original language description
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.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30102 - Immunology
Result continuities
Project
—
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2020
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Science
ISSN
0036-8075
e-ISSN
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Volume of the periodical
370
Issue of the periodical within the volume
6515
Country of publishing house
US - UNITED STATES
Number of pages
14
Pages from-to
eabd4570
UT code for WoS article
000581077200034
EID of the result in the Scopus database
2-s2.0-85094120212