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

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      Author(s)
      Özçelik, Tayfun
      Zhang, Qian
      Matuozzo, Daniela
      Le Pen, Jérémie
      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
      Hatipoğlu, Nevin
      Morelle, Guillaume
      Zatz, Mayana
      Ng, Lisa F. P.
      Lye, David Chien
      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, Laurenta
      Rice, Charles M.
      Zhang, Shen-Ying
      Cobat, Aurélie
      Casanova, Jean-Laurent
      Date
      2022-08-01
      Source Title
      Journal of Experimental Medicine
      Electronic ISSN
      0022-1007
      Publisher
      Rockefeller University Press
      Volume
      219
      Issue
      8
      Pages
      1 - 19
      Language
      English
      Type
      Article
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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. © 2022 Zhang et al.
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      http://hdl.handle.net/11693/111853
      Published Version (Please cite this version)
      https://dx.doi.org/10.1084/jem.20220131
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