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

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Zhang, Qian, Matuozzo, Daniela, Le Pen, Jeremie, Lee, Danyel, Moens, Leen, Asano, Takaki, Bohlen, Jonathan, Liu, Zhiyong, Moncada-Velez, Marcela, Kendir-Demirkol, Yasemin et al (show 36 more authors) , Jing, Huie, Bizien, Lucy, Marchal, Astrid, Abolhassani, Hassan, Delafontaine, Selket, Bucciol, Giorgia, Bayhan, Gulsum Ical, Keles, Sevgi, Kiykim, Ayca, Hancerli, Selda, Haerynck, Filomeen, Florkin, Benoit, Hatipoglu, Nevin, Ozcelik, Tayfun, Morelle, Guillaume, Zatz, Mayana, Ng, Lisa FP, Lye, David Chien, Young, Barnaby Edward, Leo, Yee-Sin, Dalgard, Clifton L, Lifton, Richard P, Renia, Laurent, Meyts, Isabelle, Jouanguy, Emmanuelle, Hammarstrom, Lennart, Pan-Hammarstrom, Qiang, Boisson, Bertrand, Bastard, Paul, Su, Helen C, Boisson-Dupuis, Stephanie, Abel, Laurent, Rice, Charles M, Zhang, Shen-Ying, Cobat, Aurelie and Casanova, Jean-Laurent (2022) Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia. JOURNAL OF EXPERIMENTAL MEDICINE, 219 (8). e20220131-.

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Abstract

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 (<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.

Item Type:	Article
Uncontrolled Keywords:	COVID Human Genetic Effort, Humans, Pneumonia, Interferon Type I, Inheritance Patterns, Adult, Child, COVID-19, SARS-CoV-2
Divisions:	Faculty of Health and Life Sciences Faculty of Health and Life Sciences > Institute of Infection, Veterinary and Ecological Sciences
Depositing User:	Symplectic Admin
Date Deposited:	18 Oct 2022 09:54
Last Modified:	18 Jan 2023 20:23
DOI:	10.1084/jem.20220131
Open Access URL:	https://doi.org/10.1084/jem.20220131
Related URLs:	Author Publisher
URI:	https://livrepository.liverpool.ac.uk/id/eprint/3165588