Please use this identifier to cite or link to this item: https://hdl.handle.net/10356/163940
Title: Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia
Authors: Zhang, Qian
Matuozzo, Daniela
Le Pen, Jérémie
Lee, Danyel
Moens, Leen
Asano, Takaki
Bohlen, Jonathan
Liu, Zhiyong
Moncada-Velez, Marcela
Kendir-Demirkol, Yasemin
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 F. P.
Lye, David C.
Young, Barnaby Edward
Leo, Yee Sin
Dalgard, Clifton L.
Lifton, Richard P.
Renia, Laurent
Meyts, Isabelle
Jouanguy, Emmanuelle
Hammarström, Lennart
Pan-Hammarström, Qiang
Boisson, Bertrand
Bastard, Paul
Su, Helen C.
Boisson-Dupuis, Stéphanie
Abel, Laurent
Rice, Charles M.
Zhang, Shen-Ying
Cobat, Aurélie
Casanova, Jean-Laurent
Keywords: Science::Medicine
Issue Date: 2022
Source: Zhang, Q., Matuozzo, D., Le Pen, J., Lee, D., Moens, L., Asano, T., Bohlen, J., Liu, Z., Moncada-Velez, M., Kendir-Demirkol, Y., Jing, H., Bizien, L., Marchal, A., Abolhassani, H., Delafontaine, S., Bucciol, G., Bayhan, G. I., Keles, S., Kiykim, A., ...Casanova, J. (2022). Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia. Journal of Experimental Medicine, 219(8), e20220131-. https://dx.doi.org/10.1084/jem.20220131
Project: COVID19RF-001 
COVID19RF-0008 
COVID19RF-060 
H/20/04/g1/006 
Journal: Journal of Experimental Medicine 
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.
URI: https://hdl.handle.net/10356/163940
ISSN: 0022-1007
DOI: 10.1084/jem.20220131
Schools: School of Biological Sciences 
Lee Kong Chian School of Medicine (LKCMedicine) 
Organisations: A*STAR Infectious Diseases Labs
National Centre for Infectious Diseases
National University of Singapore
Tan Tock Seng Hospital
Rights: © 2022 Zhang et al. This article is available under a Creative Commons License (Attribution 4.0 International, as described at https://creativecommons.org/licenses/by/4.0/)
Fulltext Permission: open
Fulltext Availability: With Fulltext
Appears in Collections:LKCMedicine Journal Articles
SBS Journal Articles

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