RT info:eu-repo/semantics/article
T1 Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children
A1 Lee, Danyel
A1 Le Pen, Jérémie
A1 Yatim, Ahmad
A1 Dong, Beihua
A1 Aquino, Yann
A1 Ogishi, Masato
A1 Pescarmona, Rémi
A1 Talouarn, Estelle
A1 Rinchai, Darawan
A1 Zhang, Peng
A1 Perret, Magali
A1 Liu, Zhiyong
A1 Jordan, Iolanda
A1 Elmas Bozdemir, Sefika
A1 Bayhan, Gulsum Iclal
A1 Beaufils, Camille
A1 Bizien, Lucy
A1 Bisiaux, Aurelie
A1 Lei, Weite
A1 Hasan, Milena
A1 Chen, Jie
A1 Gaughan, Christina
A1 Asthana, Abhishek
A1 Libri, Valentina
A1 Luna, Joseph M.
A1 Jaffré, Fabrice
A1 Hoffmann, H.-Heinrich
A1 Michailidis, Eleftherios
A1 Moreews, Marion
A1 Seeleuthner, Yoann
A1 Bilguvar, Kaya
A1 Mane, Shrikant
A1 Flores, Carlos
A1 Zhang, Yu
A1 Arias, Andrés A.
A1 Bailey, Rasheed
A1 Schlüter, Agatha
A1 Milisavljevic, Baptiste
A1 Bigio, Benedetta
A1 Le Voyer, Tom
A1 Materna, Marie
A1 Gervais, Adrian
A1 Moncada-Velez, Marcela
A1 Pala, Francesca
A1 Lazarov, Tomi
A1 Levy, Romain
A1 Neehus, Anna-Lena
A1 Rosain, Jérémie
A1 Peel, Jessica
A1 Chan, Yi-Hao
A1 Morin, Marie-Paule
A1 Pino-Ramirez, Rosa Maria
A1 Belkaya, Serkan
A1 Lorenzo, Lazaro
A1 Anton, Jordi
A1 Delafontaine, Selket
A1 Toubiana, Julie
A1 Bajolle, Fanny
A1 Fumadó, Victoria
A1 DeDiego, Marta L.
A1 Fidouh, Nadhira
A1 Rozenberg, Flore
A1 Pérez-Tur, Jordi
A1 Chen, Shuibing
A1 Evans, Todd
A1 Geissmann, Frédéric
A1 Lebon, Pierre
A1 Weiss, Susan R.
A1 Bonnet, Damien
A1 Duval, Xavier
A1 Pan-Hammarström, Qiang
A1 Planas, Anna M.
A1 Meyts, Isabelle
A1 Haerynck, Filomeen
A1 Pujol, Aurora
A1 Sancho-Shimizu, Vanessa
A1 Dalgard, Clifford L.
A1 Bustamante, Jacinta
A1 Puel, Anne
A1 Boisson-Dupuis, Stéphanie
A1 Boisson, Bertrand
A1 Maniatis, Tom
A1 Zhang, Qian
A1 Bastard, Paul
A1 Notarangelo, Luigi
A1 Béziat, Vivien
A1 Perez de Diego, Rebeca
A1 Rodriguez-Gallego, Carlos
A1 Su, Helen C.
A1 Lifton, Richard P.
A1 Jouanguy, Emmanuelle
A1 Cobat, Aurélie
A1 Alsina, Laia
A1 Keles, Sevgi
A1 Haddad, Elie
A1 Abel, Laurent
A1 Belot, Alexandre
A1 Quintana-Murci, Lluis
A1 Rice, Charles M.
A1 Silverman, Robert H.
A1 Zhang, Shen-Ying
A1 Casanova, Jean-Laurent
A1 Alavoine, Loubna
A1 Behillil, Sylvie
A1 Burdet, Charles
A1 Charpentier, Charlotte
A1 Dechanet, Aline
A1 Descamps, Diane
A1 Ecobichon, Jean-Luc
A1 Enouf, Vincent
A1 Frezouls, Wahiba
A1 Houhou, Nadhira
A1 Kafif, Ouifiya
A1 Lehacaut, Jonathan
A1 Letrou, Sophie
A1 Lina, Bruno
A1 Lucet, Jean-Christophe
A1 Manchon, Pauline
A1 Nouroudine, Mariama
A1 Piquard, Valentine
A1 Quintin, Caroline
A1 Thy, Michael
A1 Tubiana, Sarah
A1 van der Werf, Sylvie
A1 Vignali, Valérie
A1 Visseaux, Benoit
A1 Yazdanpanah, Yazdan
A1 Chahine, Abir
A1 Waucquier, Nawal
A1 Migaud, Maria-Claire
A1 Deplanque, Dominique
A1 Djossou, Félix
A1 Mergeay-Fabre, Mayka
A1 Lucarelli, Aude
A1 Demar, Magalie
A1 Bruneau, Léa
A1 Gérardin, Patrick
A1 Maillot, Adrien
A1 Payet, Christine
A1 Laviolle, Bruno
A1 Laine, Fabrice
A1 Paris, Christophe
A1 Desille-Dugast, Mireille
A1 Fouchard, Julie
A1 Malvy, Denis
A1 Nguyen, Duc
A1 Pistone, Thierry
A1 Perreau, Pauline
A1 Gissot, Valérie
A1 Le Goas, Carole
A1 Montagne, Samatha
A1 Richard, Lucie
A1 Chirouze, Catherine
A1 Bouiller, Kévin
A1 Desmarets, Maxime
A1 Meunier, Alexandre
A1 Lefèvre, Benjamin
A1 Jeulin, Hélène
A1 Legrand, Karine
A1 Lomazzi, Sandra
A1 Tardy, Bernard
A1 Gagneux-Brunon, Amandine
A1 Bertholon, Frédérique
A1 Botelho-Nevers, Elisabeth
A1 Christelle, Kouakam
A1 Nicolas, Leturque
A1 Roufai, Layidé
A1 Amat, Karine
A1 Couffin-Cadiergues, Sandrine
A1 Espérou, Hélène
A1 Hendou, Samia
A1 Abolhassani, Hassan
A1 Aguilera-Albesa, Sergio
A1 Aiuti, Alessandro
A1 Akcan, Ozge Metin
A1 Akcay, Nihal
A1 Alkan, Gulsum
A1 Alkhater, Suzan A.
A1 Allende, Luis Miguel
A1 Alper, Yosunkaya
A1 Amenzoui, Naima
A1 Anderson, Mark S.
A1 Arkin, Lisa
A1 Aubart, Melodie
A1 Avramenko, Iryna
A1 Aydemir, Şehnaz
A1 Gayretli Aydin, Zeynep Gökçe
A1 Aytekin, Caner
A1 Aytekin, Gökhan
A1 Erol Aytekin, Selma
A1 Bando, Silvia Yumi
A1 Beland, Kathie
A1 Biggs, Catherine M.
A1 Bilbao Aburto, Agurtzane
A1 Blanchard-Rohner, Geraldine
A1 Blázquez-Gamero, Daniel
A1 Bloomfield, Marketa
A1 Bogunovic, Dusan
A1 Bondarenko, Anastasia
A1 Borghesi, Alessandro
A1 Bousfiha, Amed Aziz
A1 Boyarchuk, Oksana
A1 Brodin, Petter
A1 Bryceson, Yenan
A1 Bucciol, Giorgia
A1 Calcaterra, Valeria
A1 Casari, Giorgio
A1 Cavalcanti, Andre
A1 Celik, Jale Bengi
A1 Chrousos, George P.
A1 Colobran, Roger
A1 Condino-Neto, Antonio
A1 Conti, Francesca
A1 Cooper, Megan
A1 Coskuner, Taner
A1 Cyrus, Cyril
A1 D’Auria, Enza
A1 Drolet, Beth A.
A1 Bursal Duramaz, Burcu
A1 El Zein, Loubna
A1 Elnagdy, Marwa H.
A1 Emiroglu, Melike
A1 Erdeniz, Emine Hafize
A1 Fabi, Marianna
A1 Baris Feldman, Hagit
A1 Fellay, Jacques
A1 Fencl, Filip
A1 Filippatos, Filippos
A1 Freiss, Julie
A1 Fremuth, Jiri
A1 Gagro, Alenka
A1 Garcia-Solis, Blanca
A1 Vergine, Gianluca
A1 González-Montelongo, Rafaela
A1 Gul, Yahya
A1 Gülhan, Belgin
A1 Gultekin, Sara Sebnem Kilic
A1 Gut, Marta
A1 Halwani, Rabih
A1 Hammarström, Lennart
A1 Hatipoğlu, Nevin
A1 Heath, James
A1 Henrickson, Sarah E.
A1 Hernandez-Brito, Elisa
A1 Hoffman, Ilse
A1 Hoste, Levi
A1 Hsieh, Elena
A1 Íñigo-Campos, Antonio
A1 Itan, Yuval
A1 Jabandziev, Petr
A1 Kandemir, Bahar
A1 Kanık-Yüksek, Saliha
A1 Kapakli, Hasan
A1 Karbuz, Adem
A1 Kasapcopur, Ozgur
A1 Kechiche, Robin
A1 Kendir Demirkol, Yasemin
A1 Kilic, Omer
A1 Hansen, Stella Kim
A1 Klocperk, Adam
A1 Lau, Yu-Lung
A1 Lebl, Jan
A1 Lorenzo-Salazar, José M.
A1 Lucas, Carrie L.
A1 Maglorius, Majistor
A1 Marque, Laura
A1 Novoa Medina, Yeray
A1 Montesdeoca Melián, Abián
A1 Mentis, Alexios-Fotios A.
A1 Pato, Michele T.
A1 Michos, Athanasios
A1 Milner, Joshua D.
A1 Mogensen, Trine H.
A1 Muñoz-Barrera, Adrián
A1 Nepesov, Serdar
A1 Farela Neves, João
A1 Ng, Ashley
A1 Ng, Lisa F. P.
A1 Novelli, Antonio
A1 Novelli, Giuseppe
A1 Oz, Fatma Nur
A1 Ocejo-Viñals, J. Gonzalo
A1 Okada, Satoshi
A1 Orbak, Zerrin
A1 Kilic, Ahmet Osman
A1 Ouair, Hind
A1 Öz, Şadiye Kübra Tüter
A1 Özçelik, Tayfun
A1 Özkan, Esra Akyüz
A1 Parlakay, Aslınur Özkaya
A1 Pato, Carlos N.
A1 Paz-Artal, Estela
A1 Pelham, Simon
A1 Pellier, Isabelle
A1 Philippot, Quentin
A1 Planas-Serra, Laura
A1 Plassart, Samira
A1 Pokorna, Petra
A1 Polat, Meltem
A1 Poli, Cecilia
A1 Prando, Carolina
A1 Renia, Laurent
A1 Rivière, Jacques G.
A1 Rodríguez-Palmero, Agustí
A1 Roussel, Lucie
A1 Rubio-Rodriguez, Luis A.
A1 Salifu, Moro
A1 Sasek, Lumir
A1 Sasia, Laura
A1 Scherbina, Anna
A1 Schmitt, Erica
A1 Sediva, Anna
A1 Sevketoglu, Esra
A1 Slaba, Katerina
A1 Slaby, Ondrej
A1 Sobh, Ali
A1 Solé-Violán, Jordi
A1 Soler-Palacin, Pere
A1 De Somer, Lien
A1 Sözeri, Betül
A1 Spaan, András N.
A1 Stepanovskiy, Yuriy
A1 Tangye, Stuart G.
A1 Tanir, Gonul
A1 Tatsi, Elizabeth Barbara
A1 Thorball, Christian W.
A1 Hancerli Torun, Selda
A1 Turvey, Stuart
A1 Uddin, Mohammed J.
A1 Uyar, Emel
A1 Valencia Ramos, Juan
A1 Van Den Rym, Ana Maria
A1 Vatansev, Hulya
A1 Castillo de Vera, Martín
A1 Vermeulen, François
A1 Vinh, Donald C.
A1 Volokha, Alla
A1 von Bernuth, Horst
A1 Wouters, Carine
A1 Yahşi, Aysun
A1 Yarar, Volkan
A1 Yesilbas, Osman
A1 Yıldız, Mehmet
A1 Zatz, Mayana
A1 Zawadzki, Pawel
A1 Zuccotti, Gianvincenzo
K1 Medicina
K1 Medicine
AB 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.
PB American Association for the Advancement of Science
SN 0036-8075
YR 2023
FD 2023-02
LK http://hdl.handle.net/10259/10036
UL http://hdl.handle.net/10259/10036
LA eng
NO The 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 solidarité 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 Santé et de la Recherche Médicale (INSERM), and Paris Cité 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 Collège 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 Intérieur” (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 Marató 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), Fundación MAPFRE Guanarteme (OA21/131), and Cabildo Insular de Tenerife (CGIEU0000219140 and “Apuestas científicas 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. 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 Tecnología e Innovación 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).
DS Repositorio Institucional de la Universidad de Burgos
RD 03-mar-2025