Department of Molecular Biology and Genetics

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Browsing Department of Molecular Biology and Genetics by Author "Abolhassani, Hassan"

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    Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia
    (Rockefeller University Press, 2022-08-01) 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
    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.