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

Basit Öğe Kaydı
dc.contributor.authorLee, Danyel
dc.contributor.authorLe Pen, Jeremie
dc.contributor.authorYatim, Ahmad
dc.contributor.authorDong, Beihua
dc.contributor.authorAquino, Yann
dc.contributor.authorOgishi, Masato
dc.contributor.authorPescarmona, Remi
dc.date.accessioned2024-02-23T14:26:09Z
dc.date.available2024-02-23T14:26:09Z
dc.date.issued2023
dc.departmentNEÜen_US
dc.description.abstractMultisystem 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.en_US
dc.description.sponsorshipHoward Hughes Medical Institute; Rockefeller University; St. Giles Foundation; National Institutes of Health (NIH) [R01AI088364, R21AI160576]; National Center for Advancing Translational Sciences (NCATS); NIH Clinical and Translational Science Award (CTSA) program [UL1TR001866]; Yale Center for Mendelian Genomics - National Human Genome Research Institute (NHGRI) [UM1HG006504, U24HG008956, S10OD018521]; Fisher Center for Alzheimer's Research Foundation; Meyer Foundation; JBP Foundation; French National Research Agency (ANR) under the Investments for the Future program [ANR-10-IAHU-01, ANR-10-LABX-62-IBEID]; French Foundation for Medical Research (FRM) [EQU201903007798, ANR-21-COVR-039]; ANR GENVIR [ANR-20-CE93-003]; ANR AABIFNCOV [ANR-20-CO11-0001]; European Union [824110, 01057100, 101003650]; ANR-RHU Program [ANR-21-RHUS-08]; Square Foundation, Grandir -Fonds de solidarite pour l'enfance; Fondation du Souffle; SCOR Corporate Foundation for Science; Institut National de la Sante et de la Recherche Medicale (INSERM); Paris Cite University; National Institute of Allergy and Infectious Diseases (NIAID) of the NIH [R01AI104887]; Laboratory of Human Evolutionary Genetics; Institut Pasteur; College de France; French Government's Investissement d'Avenir program; Laboratoires d'Excellence Integrative Biology of Emerging Infectious Diseases [ANR-10-LABX-62-IBEID, ANR-10-LABX-69-01]; Fondation de France [00106080]; FRM; ANR [COVID-19-POPCELL, ANR-21-CO14-0003-01, ACCI20-759 CIBERER, TV3 COVID 2021-31-33, HORIZON-HLTH-2021-ID, 101057100]; Horizon 2020 program [824110, COVID-19/PID12342]; CERCA Program/Generalitat de Catalunya - Instituto de Salud Carlos III [COV20_01333, COV20_01334]; Spanish Ministry of Science and Innovation [RTC-2017-6471-1]; AEI/FEDER; Fundacion MAPFRE Guanarteme [OA21/131]; Cabildo Insular de Tenerife [CGIEU0000219140]; French Ministry of Health; European Commission (RECOVER project) - Ministry of Health of the Czech Republic Conceptual Development of Research Organization (FNBr) [65269705, COVID0999]; Regione Lazio (Research Group Projects 2020) [A0375-2020-36663]; Inmungen-CoV2 project of CSIC; Intramural Research Program of the NIAID, NIH - European Commission [EU 2020/2094]; CSIC's Global Health Platform (PTI Salud Global); VIB GC PID grant; FWO [G0B5120N (DADA2), G0E8420N]; Jeffrey Modell Foundation; ERC-StG [MORE2ADA2]; European Academy of Dermatology and Venereology; Swiss National Science Foundation; Early Career Award from the Thrasher Research Fund; A*STAR International Fellowship (AIF); David Rockefeller Graduate Program; Funai Foundation for Information Technology; Honjo International Scholarship Foundation (HISF); National Cancer Institute (NCI) F99 Award [F99CA274708]; Ministerio de Ciencia Tecnologia e Innovacion MINCIENCIAS, Colombia [111584467551/CT 415-2020]; FRM for medical residents; Bank of Montreal Chair of Pediatric Immunology, Foundation of CHU Sainte-Justine, CIHR [PCC-466901, MM1-181123]; Canadian Pediatric Society IMPACT; Swedish Research Council; Knut and Alice Wallenberg Foundation; NIH [P01AI138398-S1, 2U19AI111825, R01AI091707-10S1, R01AI161444]; George Mason University Fast Grant; G. Harold and Leila Y. Mathers Charitable Foundation; Bawd Foundation; Roche subsidiary Genentech; Francois Wallace Monahan Postdoctoral Fellowship at the Rockefeller University; European Molecular Biology Organization Long-Term Fellowship [ALTF 380-2018]; Agence Nationale de la Recherche (ANR) [ANR-21-CO14-0003] Funding Source: Agence Nationale de la Recherche (ANR)en_US
dc.description.sponsorshipThe Laboratory of Human Genetics of Infectious Diseases is supported by the Howard Hughes Medical Institute, the Rockefeller University, the St. Giles Foundation, the National Institutes of Health (NIH) (R01AI088364 and R21AI160576), the National Center for Advancing Translational Sciences (NCATS), NIH Clinical and Translational Science Award (CTSA) program (UL1TR001866), the Yale Center for Mendelian Genomics and the GSP Coordinating Center funded by the National Human Genome Research Institute (NHGRI) (UM1HG006504 and U24HG008956), the Yale High-Performance Computing Center (S10OD018521), the Fisher Center for Alzheimer's Research Foundation, the Meyer Foundation, the JBP Foundation, the French National Research Agency (ANR) under the Investments for the Future program (ANR-10-IAHU-01), the Integrative Biology of Emerging Infectious Diseases Laboratory of Excellence (ANR-10-LABX-62-IBEID), the French Foundation for Medical Research (FRM) (EQU201903007798), the ANR GenMISC (ANR-21-COVR-039), the ANRS-COV05, ANR GENVIR (ANR-20-CE93-003) and ANR AABIFNCOV (ANR-20-CO11-0001) projects, the ANR-RHU program (ANR-21-RHUS-08), the European Union's Horizon 2020 research and innovation program under grant agreement 824110 (EASI-genomics), the HORIZON-HLTH-2021-DISEASE-04 program under grant agreement 01057100 (UNDINE), the ANR-RHU Program ANR-21-RHUS-08 (COVIFERON), the Square Foundation, Grandir -Fonds de solidarite pour l'enfance, the Fondation du Souffle, the SCOR Corporate Foundation for Science, the French Ministry of Higher Education, Research, and Innovation (MESRI-COVID-19), Institut National de la Sante et de la Recherche Medicale (INSERM), and Paris Cite University. We acknowledge support from the National Institute of Allergy and Infectious Diseases (NIAID) of the NIH under award R01AI104887 to R.H.S. and S.R.W. The Laboratory of Human Evolutionary Genetics (Institut Pasteur) is supported by the Institut Pasteur, the College de France, the French Government's Investissement d'Avenir program, Laboratoires d'Excellence Integrative Biology of Emerging Infectious Diseases (ANR-10-LABX-62-IBEID) and Milieu Interieur (ANR-10-LABX-69-01), the Fondation de France (no. 00106080), the FRM (Equipe FRM DEQ20180339214 team), and the ANR COVID-19-POPCELL (ANR-21-CO14-0003-01). A.Puj. is supported by ACCI20-759 CIBERER, EasiGenomics H2020 Marato TV3 COVID 2021-31-33, the HORIZON-HLTH-2021-ID: 101057100 (UNDINE), the Horizon 2020 program under grant no. 824110 (EasiGenomics grant no. COVID-19/PID12342), and the CERCA Program/Generalitat de Catalunya. The Canarian Health System sequencing hub was funded by the Instituto de Salud Carlos III (COV20_01333 and COV20_01334), the Spanish Ministry of Science and Innovation (RTC-2017-6471-1; AEI/FEDER, UE), Fundacion MAPFRE Guanarteme (OA21/131), and Cabildo Insular de Tenerife (CGIEU0000219140 and Apuestas cientificas del ITER para colaborar en la lucha contra la COVID-19). The CoV-Contact Cohort was funded by the French Ministry of Health and the European Commission (RECOVER project). Our studies are also funded by the Ministry of Health of the Czech Republic Conceptual Development of Research Organization (FNBr, 65269705) and ANID COVID0999 funding in Chile. G. Novelli and A. Novelli are supported by Regione Lazio (Research Group Projects 2020) No. A0375-2020-36663, GecoBiomark. A.M.P., M.L.D., and J.P.-T. are supported by the Inmungen-CoV2 project of CSIC. This work was supported in part by the Intramural Research Program of the NIAID, NIH. The research work of A.M..P, M.L.D., and J.P.-T.; r was funded by the European Commission -NextGenerationEU (Regulation EU 2020/2094), through CSIC's Global Health Platform (PTI Salud Global). I.M. is a senior clinical investigator at FWO Vlaanderen supported by a VIB GC PID grant, by FWO grants G0B5120N (DADA2) and G0E8420N, and by the Jeffrey Modell Foundation. I.M. holds an ERC-StG MORE2ADA2 grant and is also supported by ERN-RITA. A.Y. is supported by fellowships from the European Academy of Dermatology and Venereology and the Swiss National Science Foundation and by an Early Career Award from the Thrasher Research Fund. Y.-H.C. is supported by an A*STAR International Fellowship (AIF). M.O. was supported by the David Rockefeller Graduate Program, the New York Hideyo Noguchi Memorial Society (HNMS), the Funai Foundation for Information Technology (FFIT), the Honjo International Scholarship Foundation (HISF), and the National Cancer Institute (NCI) F99 Award (F99CA274708). A.A.A. was supported by Ministerio de Ciencia Tecnologia e Innovacion MINCIENCIAS, Colombia (111584467551/CT 415-2020). D.L. is supported by a fellowship from the FRM for medical residents and fellows. E.H. received funding from the Bank of Montreal Chair of Pediatric Immunology, Foundation of CHU Sainte-Justine, CIHR grants PCC-466901 and MM1-181123, and a Canadian Pediatric Society IMPACT study. Q.P.-H. received funding from the European Union's Horizon 2020 research and innovation program (ATAC, 101003650), the Swedish Research Council, and the Knut and Alice Wallenberg Foundation. Work in the Laboratory of Virology and Infectious Disease was supported by NIH grants P01AI138398-S1, 2U19AI111825, R01AI091707-10S1, and R01AI161444; a George Mason University Fast Grant; the G. Harold and Leila Y. Mathers Charitable Foundation; the Meyer Foundation; and the Bawd Foundation. R.P.L. is on the board of directors of both Roche and the Roche subsidiary Genentech. J.L.P. was supported by a Francois Wallace Monahan Postdoctoral Fellowship at the Rockefeller University and by a European Molecular Biology Organization Long-Term Fellowship (ALTF 380-2018).en_US
dc.identifier.doi10.1126/science.abo3627
dc.identifier.endpage+en_US
dc.identifier.issn0036-8075
dc.identifier.issn1095-9203
dc.identifier.issue6632en_US
dc.identifier.pmid36538032en_US
dc.identifier.scopus2-s2.0-85147787850en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage554en_US
dc.identifier.urihttps://doi.org/10.1126/science.abo3627
dc.identifier.urihttps://hdl.handle.net/20.500.12452/14067
dc.identifier.volume379en_US
dc.identifier.wosWOS:001052667200001en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherAmer Assoc Advancement Scienceen_US
dc.relation.ispartofScienceen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subject[Keyword Not Available]en_US
dc.titleInborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in childrenen_US
dc.typeArticleen_US

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