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

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buir.contributor.authorÖzçelik, Tayfun
buir.contributor.orcidÖzçelik, Tayfun|0000-0001-5937-1082
dc.citation.epage19en_US
dc.citation.issueNumber8en_US
dc.citation.spage1en_US
dc.citation.volumeNumber219en_US
dc.contributor.authorÖzçelik, Tayfun
dc.contributor.authorZhang, Qian
dc.contributor.authorMatuozzo, Daniela
dc.contributor.authorLe Pen, Jérémie
dc.contributor.authorMoens, Leen
dc.contributor.authorAsano, Takaki
dc.contributor.authorBohlen, Jonathan
dc.contributor.authorLiu, Zhiyong
dc.contributor.authorMoncada-Velez, Marcela
dc.contributor.authorKendir-Demirkol, Yasemin
dc.contributor.authorJing, Huie
dc.contributor.authorBizien, Lucy
dc.contributor.authorMarchal, Astrid
dc.contributor.authorAbolhassani, Hassan
dc.contributor.authorDelafontaine, Selket
dc.contributor.authorBucciol, Giorgia
dc.contributor.authorBayhan, Gulsum Ical
dc.contributor.authorKeles, Sevgi
dc.contributor.authorKiykim, Ayca
dc.contributor.authorHancerli, Selda
dc.contributor.authorHaerynck, Filomeen
dc.contributor.authorFlorkin, Benoit
dc.contributor.authorHatipoğlu, Nevin
dc.contributor.authorMorelle, Guillaume
dc.contributor.authorZatz, Mayana
dc.contributor.authorNg, Lisa F. P.
dc.contributor.authorLye, David Chien
dc.contributor.authorYoung, Barnaby Edward
dc.contributor.authorLeo, Yee-Sin
dc.contributor.authorDalgard, Clifton L.
dc.contributor.authorLifton, Richard P.
dc.contributor.authorRenia, Laurent
dc.contributor.authorMeyts, Isabelle
dc.contributor.authorJouanguy, Emmanuelle
dc.contributor.authorHammarström, Lennart
dc.contributor.authorPan-Hammarström, Qiang
dc.contributor.authorBoisson, Bertrand
dc.contributor.authorBastard, Paul
dc.contributor.authorSu, Helen C.
dc.contributor.authorBoisson-Dupuis, Stéphanie
dc.contributor.authorAbel, Laurenta
dc.contributor.authorRice, Charles M.
dc.contributor.authorZhang, Shen-Ying
dc.contributor.authorCobat, Aurélie
dc.contributor.authorCasanova, Jean-Laurent
dc.date.accessioned2023-02-27T19:42:49Z
dc.date.available2023-02-27T19:42:49Z
dc.date.issued2022-08-01
dc.departmentDepartment of Molecular Biology and Geneticsen_US
dc.description.abstractRecessive 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.en_US
dc.identifier.doi10.1084/jem.20220131en_US
dc.identifier.eissn0022-1007
dc.identifier.urihttp://hdl.handle.net/11693/111853
dc.language.isoEnglishen_US
dc.publisherRockefeller University Pressen_US
dc.relation.isversionofhttps://dx.doi.org/10.1084/jem.20220131en_US
dc.source.titleJournal of Experimental Medicineen_US
dc.titleRecessive inborn errors of type I IFN immunity in children with COVID-19 pneumoniaen_US
dc.typeArticleen_US

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