Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F22%3A10459864" target="_blank" >RIV/00064203:_____/22:10459864 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11130/22:10459864

Result on the web

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=lR7oQClXol" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=lR7oQClXol</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1084/jem.20220131" target="_blank" >10.1084/jem.20220131</a>

Result language

angličtina

Original language name

Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia

Original language description

Recessive or dominant inborn errors of type I interferon (IFN) immunity can underlie critical COVID-19 pneumonia in unvaccinated adults. The risk of COVID-19 pneumonia in unvaccinated children, which is much lower than in unvaccinated adults, remains unexplained. In an international cohort of 112 children (&lt;16 yr old) hospitalized for COVID-19 pneumonia, we report 12 children (10.7%) aged 1.5–13 yr with critical (7 children), severe (3), and moderate (2) pneumonia and 4 of the 15 known clinically recessive and biochemically complete inborn errors of type I IFN immunity: X-linked recessive TLR7 deficiency (7 children) and autosomal recessive IFNAR1 (1), STAT2 (1), or TYK2 (3) deficiencies. Fibroblasts deficient for IFNAR1, STAT2, or TYK2 are highly vulnerable to SARS-CoV-2. These 15 deficiencies were not found in 1,224 children and adults with benign SARS-CoV-2 infection without pneumonia (P = 1.2 × 10−11) and with overlapping age, sex, consanguinity, and ethnicity characteristics. Recessive complete deficiencies of type I IFN immunity may underlie ∼10% of hospitalizations for COVID-19 pneumonia in children.

Czech name

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Czech description

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Type

J_imp - 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

Project

—

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2022

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Journal of Experimental Medicine

ISSN

0022-1007

e-ISSN

—

Volume of the periodical

219

Issue of the periodical within the volume

8

Country of publishing house

US - UNITED STATES

Number of pages

30

Pages from-to

e20220131

UT code for WoS article

000866223500001

EID of the result in the Scopus database

2-s2.0-85136173099