Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children

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...

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Detalles Bibliográficos
Autores: Lee, Danyel, Le Pen, Jérémie, Yatim, Ahmad, Dong, Beihua, Aquino, Yann, Ogishi, Masato, Pescarmona, Rémi, Talouarn, Estelle, Rinchai, Darawan, Zhang, Peng, Perret, Magali, 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, CoV-Contact Cohort, COVID Human Genetic Effort, Pan-Hammarström, Qiang, Planas Obradors, Anna Maria, Meyts, Isabelle, Haerynck, Filomeen, Pujol Onofre, Aurora, Sancho Shimizu, Vanessa, Dalgard, Clifford L., Bustamante, Jacinta, Puel, Anne, Boisson-Dupuis, Stéphanie, Boisson, Bertrand, Maniatis, Tom, Zhang, Qian, Bastard, Paul, Notarangelo, Luigi D., Béziat, Vivien, Pérez de Diego, Rebeca, Rodríguez Gallego, Carlos, Su, Helen C., Lifton, Richard P., Jouanguy, Emmanuelle, Cobat, Aurélie, Alsina Manrique de Lara, Laia, Keles, Sevgi, Haddad, Elie, Casanova, Jean-Laurent, Abel, Laurent, Belot, Alexandre, Zhang, Shen-Ying, Quintana Murci, Lluis, Silverman, Robert H., Rice, Charles M., Liu, Zhiyong, Jordán García, 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, Heinrich H., 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, Antón López, Jordi, 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 Ramírez, Rosa Mª, Belkaya, Serkan, Lorenzo, Lazaro, Delafontaine, Selket, Toubiana, Julie, Bajolle, Fanny
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2023
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:2445/202161
Acceso en línea:https://hdl.handle.net/2445/202161
Access Level:acceso abierto
Palabra clave:COVID-19
SARS-CoV-2
Inflamació
Infants
Inflammation
Children
Descripción
Sumario: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.

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