@article{01GW77JSBQS6Z0J85C7X7WJ2V6,
  abstract     = {{Multisystem inflammatory syndrome in children (MIS-C) is a rare and severe condition that follows benign COVID-19. We report autosomal recessive deficiencies of OAS1, OAS2, or RNASEL 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.}},
  articleno    = {{554}},
  author       = {{Lee, Danyel and Le Pen, Jérémie and Yatim, Ahmad and Dong, Beihua and Aquino, Yann and Ogishi, Masato and Pescarmona, Rémi and Talouarn, Estelle and Rinchai, Darawan and Zhang, Peng and Perret, Magali and Liu, Zhiyong and Jordan, Iolanda and Elmas Bozdemir, Sefika and Bayhan, Gulsum Iclal and Beaufils, Camille and Bizien, Lucy and Bisiaux, Aurelie and Lei, Weite and Hasan, Milena and Chen, Jie and Gaughan, Christina and Asthana, Abhishek and Libri, Valentina and Luna, Joseph M. and Jaffré, Fabrice and Hoffmann, H.-Heinrich and Michailidis, Eleftherios and Moreews, Marion and Seeleuthner, Yoann and Bilguvar, Kaya and Mane, Shrikant and Flores, Carlos and Zhang, Yu and Arias, Andrés A. and Bailey, Rasheed and Schlüter, Agatha and Milisavljevic, Baptiste and Bigio, Benedetta and Le Voyer, Tom and Materna, Marie and Gervais, Adrian and Moncada-Velez, Marcela and Pala, Francesca and Lazarov, Tomi and Levy, Romain and Neehus, Anna-Lena and Rosain, Jérémie and Peel, Jessica and Chan, Yi-Hao and Morin, Marie-Paule and Pino-Ramirez, Rosa Maria and Belkaya, Serkan and Lorenzo, Lazaro and Anton, Jordi and Delafontaine, Selket and Toubiana, Julie and Bajolle, Fanny and Fumadó, Victoria and DeDiego, Marta L. and Fidouh, Nadhira and Rozenberg, Flore and Pérez-Tur, Jordi and Chen, Shuibing and Evans, Todd and Geissmann, Frédéric and Lebon, Pierre and Weiss, Susan R. and Bonnet, Damien and Duval, Xavier and COVID, Human Genetic Effort and Pan-Hammarström, Qiang and Planas, Anna M. and Meyts, Isabelle and Haerynck, Filomeen and Pujol, Aurora and Sancho-Shimizu, Vanessa and Dalgard, Clifford and Bustamante, Jacinta and Puel, Anne and Boisson-Dupuis, Stéphanie and Boisson, Bertrand and Maniatis, Tom and Zhang, Qian and Bastard, Paul and Notarangelo, Luigi and Béziat, Vivien and Perez de Diego, Rebeca and Rodriguez-Gallego, Carlos and Su, Helen C. and Lifton, Richard P. and Jouanguy, Emmanuelle and Cobat, Aurélie and Alsina, Laia and Keles, Sevgi and Haddad, Elie and Abel, Laurent and Belot, Alexandre and Quintana-Murci, Lluis and Rice, Charles M. and Silverman, Robert H. and Zhang, Shen-Ying and Casanova, Jean-Laurent and CoV-Contact Cohort§, [missing]}},
  issn         = {{0036-8075}},
  journal      = {{SCIENCE}},
  keywords     = {{Multidisciplinary}},
  language     = {{eng}},
  number       = {{6632}},
  pages        = {{21}},
  publisher    = {{American Association for the Advancement of Science (AAAS)}},
  title        = {{Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children}},
  url          = {{http://doi.org/10.1126/science.abo3627}},
  volume       = {{379}},
  year         = {{2023}},
}

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