2026-05-15T10:13:43Zhttps://riubu.ubu.es/oai/request

oai:riubu.ubu.es:10259/100362025-01-25T01:05:15Zcom_10259_6688com_10259_5086com_10259_2604col_10259_6689

2025-01-24T11:42:41Z urn:hdl:10259/10036 Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children Lee, Danyel Le Pen, Jérémie Yatim, Ahmad Dong, Beihua Aquino, Yann Ogishi, Masato Pescarmona, Rémi Talouarn, Estelle Rinchai, Darawan Zhang, Peng Perret, Magali Liu, Zhiyong Jordan, Iolanda Elmas Bozdemir, Sefika Bayhan, Gulsum Iclal Beaufils, Camille Bizien, Lucy Bisiaux, Aurelie Lei, Weite Hasan, Milena Chen, Jie Gaughan, Christina Asthana, Abhishek Libri, Valentina Luna, Joseph M. Jaffré, Fabrice Hoffmann, H.-Heinrich Michailidis, Eleftherios Moreews, Marion Seeleuthner, Yoann Bilguvar, Kaya Mane, Shrikant Flores, Carlos Zhang, Yu Arias, Andrés A. Bailey, Rasheed Schlüter, Agatha Milisavljevic, Baptiste Bigio, Benedetta Le Voyer, Tom Materna, Marie Gervais, Adrian Moncada-Velez, Marcela Pala, Francesca Lazarov, Tomi Levy, Romain Neehus, Anna-Lena Rosain, Jérémie Peel, Jessica Chan, Yi-Hao Morin, Marie-Paule Pino-Ramirez, Rosa Maria Belkaya, Serkan Lorenzo, Lazaro Anton, Jordi Delafontaine, Selket Toubiana, Julie Bajolle, Fanny Fumadó, Victoria DeDiego, Marta L. Fidouh, Nadhira Rozenberg, Flore Pérez-Tur, Jordi Chen, Shuibing Evans, Todd Geissmann, Frédéric Lebon, Pierre Weiss, Susan R. Bonnet, Damien Duval, Xavier Pan-Hammarström, Qiang Planas, Anna M. Meyts, Isabelle Haerynck, Filomeen Pujol, Aurora Sancho-Shimizu, Vanessa Dalgard, Clifford L. Bustamante, Jacinta Puel, Anne Boisson-Dupuis, Stéphanie Boisson, Bertrand Maniatis, Tom Zhang, Qian Bastard, Paul Notarangelo, Luigi Béziat, Vivien Perez de Diego, Rebeca Rodriguez-Gallego, Carlos Su, Helen C. Lifton, Richard P. Jouanguy, Emmanuelle Cobat, Aurélie Alsina, Laia Keles, Sevgi Haddad, Elie Abel, Laurent Belot, Alexandre Quintana-Murci, Lluis Rice, Charles M. Silverman, Robert H. Zhang, Shen-Ying Casanova, Jean-Laurent Alavoine, Loubna Behillil, Sylvie Burdet, Charles Charpentier, Charlotte Dechanet, Aline Descamps, Diane Ecobichon, Jean-Luc Enouf, Vincent Frezouls, Wahiba Houhou, Nadhira Kafif, Ouifiya Lehacaut, Jonathan Letrou, Sophie Lina, Bruno Lucet, Jean-Christophe Manchon, Pauline Nouroudine, Mariama Piquard, Valentine Quintin, Caroline Thy, Michael Tubiana, Sarah van der Werf, Sylvie Vignali, Valérie Visseaux, Benoit Yazdanpanah, Yazdan Chahine, Abir Waucquier, Nawal Migaud, Maria-Claire Deplanque, Dominique Djossou, Félix Mergeay-Fabre, Mayka Lucarelli, Aude Demar, Magalie Bruneau, Léa Gérardin, Patrick Maillot, Adrien Payet, Christine Laviolle, Bruno Laine, Fabrice Paris, Christophe Desille-Dugast, Mireille Fouchard, Julie Malvy, Denis Nguyen, Duc Pistone, Thierry Perreau, Pauline Gissot, Valérie Le Goas, Carole Montagne, Samatha Richard, Lucie Chirouze, Catherine Bouiller, Kévin Desmarets, Maxime Meunier, Alexandre Lefèvre, Benjamin Jeulin, Hélène Legrand, Karine Lomazzi, Sandra Tardy, Bernard Gagneux-Brunon, Amandine Bertholon, Frédérique Botelho-Nevers, Elisabeth Christelle, Kouakam Nicolas, Leturque Roufai, Layidé Amat, Karine Couffin-Cadiergues, Sandrine Espérou, Hélène Hendou, Samia Abolhassani, Hassan Aguilera-Albesa, Sergio Aiuti, Alessandro Akcan, Ozge Metin Akcay, Nihal Alkan, Gulsum Alkhater, Suzan A. Allende, Luis Miguel Alper, Yosunkaya Amenzoui, Naima Anderson, Mark S. Arkin, Lisa Aubart, Melodie Avramenko, Iryna Aydemir, Şehnaz Gayretli Aydin, Zeynep Gökçe Aytekin, Caner Aytekin, Gökhan Erol Aytekin, Selma Bando, Silvia Yumi Beland, Kathie Biggs, Catherine M. Bilbao Aburto, Agurtzane Blanchard-Rohner, Geraldine Blázquez-Gamero, Daniel Bloomfield, Marketa Bogunovic, Dusan Bondarenko, Anastasia Borghesi, Alessandro Bousfiha, Amed Aziz Boyarchuk, Oksana Brodin, Petter Bryceson, Yenan Bucciol, Giorgia Calcaterra, Valeria Casari, Giorgio Cavalcanti, Andre Celik, Jale Bengi Chrousos, George P. Colobran, Roger Condino-Neto, Antonio Conti, Francesca Cooper, Megan Coskuner, Taner Cyrus, Cyril D’Auria, Enza Drolet, Beth A. Bursal Duramaz, Burcu El Zein, Loubna Elnagdy, Marwa H. Emiroglu, Melike Erdeniz, Emine Hafize Fabi, Marianna Baris Feldman, Hagit Fellay, Jacques Fencl, Filip Filippatos, Filippos Freiss, Julie Fremuth, Jiri Gagro, Alenka Garcia-Solis, Blanca Vergine, Gianluca González-Montelongo, Rafaela Gul, Yahya Gülhan, Belgin Gultekin, Sara Sebnem Kilic Gut, Marta Halwani, Rabih Hammarström, Lennart Hatipoğlu, Nevin Heath, James Henrickson, Sarah E. Hernandez-Brito, Elisa Hoffman, Ilse Hoste, Levi Hsieh, Elena Íñigo-Campos, Antonio Itan, Yuval Jabandziev, Petr Kandemir, Bahar Kanık-Yüksek, Saliha Kapakli, Hasan Karbuz, Adem Kasapcopur, Ozgur Kechiche, Robin Kendir Demirkol, Yasemin Kilic, Omer Hansen, Stella Kim Klocperk, Adam Lau, Yu-Lung Lebl, Jan Lorenzo-Salazar, José M. Lucas, Carrie L. Maglorius, Majistor Marque, Laura Novoa Medina, Yeray Montesdeoca Melián, Abián Mentis, Alexios-Fotios A. Pato, Michele T. Michos, Athanasios Milner, Joshua D. Mogensen, Trine H. Muñoz-Barrera, Adrián Nepesov, Serdar Farela Neves, João Ng, Ashley Ng, Lisa F. P. Novelli, Antonio Novelli, Giuseppe Oz, Fatma Nur Ocejo-Viñals, J. Gonzalo Okada, Satoshi Orbak, Zerrin Kilic, Ahmet Osman Ouair, Hind Öz, Şadiye Kübra Tüter Özçelik, Tayfun Özkan, Esra Akyüz Parlakay, Aslınur Özkaya Pato, Carlos N. Paz-Artal, Estela Pelham, Simon Pellier, Isabelle Philippot, Quentin Planas-Serra, Laura Plassart, Samira Pokorna, Petra Polat, Meltem Poli, Cecilia Prando, Carolina Renia, Laurent Rivière, Jacques G. Rodríguez-Palmero, Agustí Roussel, Lucie Rubio-Rodriguez, Luis A. Salifu, Moro Sasek, Lumir Sasia, Laura Scherbina, Anna Schmitt, Erica Sediva, Anna Sevketoglu, Esra Slaba, Katerina Slaby, Ondrej Sobh, Ali Solé-Violán, Jordi Soler-Palacin, Pere De Somer, Lien Sözeri, Betül Spaan, András N. Stepanovskiy, Yuriy Tangye, Stuart G. Tanir, Gonul Tatsi, Elizabeth Barbara Thorball, Christian W. Hancerli Torun, Selda Turvey, Stuart Uddin, Mohammed J. Uyar, Emel Valencia Ramos, Juan Van Den Rym, Ana Maria Vatansev, Hulya Castillo de Vera, Martín Vermeulen, François Vinh, Donald C. Volokha, Alla von Bernuth, Horst Wouters, Carine Yahşi, Aysun Yarar, Volkan Yesilbas, Osman Yıldız, Mehmet Zatz, Mayana Zawadzki, Pawel Zuccotti, Gianvincenzo 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. 2025-01-24T11:42:41Z 2025-01-24T11:42:41Z 2023-02 info:eu-repo/semantics/article 0036-8075 http://hdl.handle.net/10259/10036 10.1126/SCIENCE.ABO3627 1095-9203 eng Science. 2023, V. 379, n. 6632 https://doi.org/10.1126/science.abo3627 http://creativecommons.org/licenses/by/4.0/ info:eu-repo/semantics/openAccess Atribución 4.0 Internacional American Association for the Advancement of Science