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

TitleInborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children
Authors
Issue Date10-Feb-2023
PublisherAmerican Association for the Advancement of Science
Citation
Science, 2023, v. 379, n. 6632 How to Cite?
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 OAS1OAS2, 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. 


Persistent Identifierhttp://hdl.handle.net/10722/331411
ISSN
2023 Impact Factor: 44.7
2023 SCImago Journal Rankings: 11.902

 

DC FieldValueLanguage
dc.contributor.authorLee, D-
dc.contributor.authorLe Pen, J-
dc.contributor.authorYatim, A-
dc.contributor.authorDong, BH-
dc.contributor.authorAquino, Y-
dc.contributor.authorOgishi, M-
dc.contributor.authorPescarmona, R-
dc.contributor.authorTalouarn, E-
dc.contributor.authorRinchai, D-
dc.contributor.authorZhang, P-
dc.contributor.authorPerret, M-
dc.contributor.authorLiu, ZY-
dc.contributor.authorJordan, I-
dc.contributor.authorBozdemir, SE-
dc.contributor.authorBayhan, GI-
dc.contributor.authorBeaufils, C-
dc.contributor.authorBizien, L-
dc.contributor.authorBisiaux, A-
dc.contributor.authorLei, WT-
dc.contributor.authorHasan, M-
dc.contributor.authorChen, J-
dc.contributor.authorGaughan, C-
dc.contributor.authorAsthana, A-
dc.contributor.authorLibri, V-
dc.contributor.authorLuna, JM-
dc.contributor.authorJaffre, F-
dc.contributor.authorHoffmann, HH-
dc.contributor.authorMichailidis, E-
dc.contributor.authorMoreews, M-
dc.contributor.authorSeeleuthner, Y-
dc.contributor.authorBilguvar, K-
dc.contributor.authorMane, S-
dc.contributor.authorFlores, C-
dc.contributor.authorZhang, Y-
dc.contributor.authorArias, AA-
dc.contributor.authorBailey, R-
dc.contributor.authorSchluter, A-
dc.contributor.authorMilisavljevic, B-
dc.contributor.authorBigio, B-
dc.contributor.authorLe Voyer, T-
dc.contributor.authorMaterna, M-
dc.contributor.authorGervais, A-
dc.contributor.authorMoncada-Velez, M-
dc.contributor.authorPala, F-
dc.contributor.authorLazarov, T-
dc.contributor.authorLevy, R-
dc.contributor.authorNeehus, AL-
dc.contributor.authorRosain, J-
dc.contributor.authorPeel, J-
dc.contributor.authorChan, YH-
dc.contributor.authorMorin, MP-
dc.contributor.authorPino-Ramirez, RM-
dc.contributor.authorBelkaya, S-
dc.contributor.authorLorenzo, L-
dc.contributor.authorAnton, J-
dc.contributor.authorDelafontaine, S-
dc.contributor.authorToubiana, J-
dc.contributor.authorBajolle, F-
dc.contributor.authorFurnado, V-
dc.contributor.authorDeDiego, ML-
dc.contributor.authorFidouh, N-
dc.contributor.authorRozenberg, F-
dc.contributor.authorPerez-Tur, J-
dc.contributor.authorChen, S-
dc.contributor.authorEvans, T-
dc.contributor.authorGeissmann, F-
dc.contributor.authorLebon, P-
dc.contributor.authorWeiss, SR-
dc.contributor.authorBonnet, D-
dc.contributor.authorDuval, X-
dc.contributor.authorPan-Hammarstrom, Q-
dc.contributor.authorPlanas, AM-
dc.contributor.authorMeyts, I-
dc.contributor.authorHaerynck, F-
dc.contributor.authorPujol, A-
dc.contributor.authorSancho-Shimizu, V-
dc.contributor.authorDalgard, CL-
dc.contributor.authorBustamante, J-
dc.contributor.authorPuel, A-
dc.contributor.authorBoisson-Dupuis, S-
dc.contributor.authorBoisson, B-
dc.contributor.authorManiatis, T-
dc.contributor.authorZhang, Q-
dc.contributor.authorBastard, P-
dc.contributor.authorNotarangelo, L-
dc.contributor.authorBeziat, V-
dc.contributor.authorde Diego, RP-
dc.contributor.authorRodriguez-Gallego, C-
dc.contributor.authorSu, HC-
dc.contributor.authorLifton, RP-
dc.contributor.authorJouanguy, E-
dc.contributor.authorCobat, A-
dc.contributor.authorAlsina, L-
dc.contributor.authorKeles, S-
dc.contributor.authorHaddad, E-
dc.contributor.authorAbel, L-
dc.contributor.authorBelot, A-
dc.contributor.authorQuintana-Murci, L-
dc.contributor.authorRice, CM-
dc.contributor.authorSilverman, RH-
dc.contributor.authorZhang, SY-
dc.contributor.authorCasanova, JL-
dc.contributor.authorLau, YL-
dc.contributor.authorCoV-Contact Cohort,-
dc.contributor.authorCovid Human Genetic Effort,-
dc.date.accessioned2023-09-21T06:55:28Z-
dc.date.available2023-09-21T06:55:28Z-
dc.date.issued2023-02-10-
dc.identifier.citationScience, 2023, v. 379, n. 6632-
dc.identifier.issn0036-8075-
dc.identifier.urihttp://hdl.handle.net/10722/331411-
dc.description.abstract<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 <em>OAS1</em>, <em>OAS2</em>, or <em>RNASEL</em> 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.<span> </span></p>-
dc.languageeng-
dc.publisherAmerican Association for the Advancement of Science-
dc.relation.ispartofScience-
dc.rightsThis work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.-
dc.titleInborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children-
dc.typeArticle-
dc.identifier.doi10.1126/science.abo3627-
dc.identifier.scopuseid_2-s2.0-85147787850-
dc.identifier.volume379-
dc.identifier.issue6632-
dc.identifier.eissn1095-9203-
dc.identifier.issnl0036-8075-

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