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Author: search.filters.author.Alessandro AiutiSubject: search.filters.subject.adult

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    Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children
    (2023)
    Danyel Lee
    ;
    Jérémie Le Pen
    ;
    Ahmad Yatim
    ;
    Beihua Dong
    ;
    Yann Aquino
    <jats:p> Multisystem inflammatory syndrome in children (MIS-C) is a rare and severe condition that follows benign COVID-19. We report autosomal recessive deficiencies of <jats:italic>OAS1</jats:italic> , <jats:italic>OAS2</jats:italic> , or <jats:italic>RNASEL</jats:italic> in five unrelated children with MIS-C. The cytosolic double-stranded RNA (dsRNA)–sensing OAS1 and OAS2 generate 2′-5′-linked oligoadenylates (2-5A) that activate the single-stranded RNA–degrading ribonuclease L (RNase L). Monocytic cell lines and primary myeloid cells with OAS1, OAS2, or RNase L deficiencies produce excessive amounts of inflammatory cytokines upon dsRNA or severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) stimulation. Exogenous 2-5A suppresses cytokine production in OAS1-deficient but not RNase L–deficient cells. Cytokine production in RNase L–deficient cells is impaired by MDA5 or RIG-I deficiency and abolished by mitochondrial antiviral-signaling protein (MAVS) deficiency. Recessive OAS–RNase L deficiencies in these patients unleash the production of SARS-CoV-2–triggered, MAVS-mediated inflammatory cytokines by mononuclear phagocytes, thereby underlying MIS-C. </jats:p>
      11Scopus© Citations 137
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    Coronavirus disease 2019 in patients with inborn errors of immunity: An international study
    (2021)
    Isabelle Meyts
    ;
    Giorgia Bucciol
    ;
    Isabella Quinti
    ;
    Bénédicte Neven
    ;
    Alain Fischer
    Scopus© Citations 309  3