| Title: |
Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children |
| Authors: |
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; null, null; 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 |
| Contributors: |
D. Lee; J. Le Pen; A. Yatim; B. Dong; Y. Aquino; M. Ogishi; R. Pescarmona; E. Talouarn; D. Rinchai; P. Zhang; M. Perret; Z. Liu; I. Jordan; S. Elmas Bozdemir; G.I. Bayhan; C. Beaufil; L. Bizien; A. Bisiaux; W. Lei; M. Hasan; J. Chen; C. Gaughan; A. Asthana; V. Libri; J.M. Luna; F. Jaffré; H.-. Hoffmann; E. Michailidi; M. Moreew; Y. Seeleuthner; K. Bilguvar; S. Mane; C. Flore; Y. Zhang; A.A. Aria; R. Bailey; A. Schlüter; B. Milisavljevic; B. Bigio; T. Le Voyer; M. Materna; A. Gervai; M. Moncada-Velez; F. Pala; T. Lazarov; R. Levy; A. Neehu; J. Rosain; J. Peel; Y. Chan; M. Morin; R.M. Pino-Ramirez; S. Belkaya; L. Lorenzo; J. Anton; S. Delafontaine; J. Toubiana; F. Bajolle; V. Fumadó; M.L. Dediego; N. Fidouh; F. Rozenberg; J. Pérez-Tur; S. Chen; T. Evan; F. Geissmann; P. Lebon; S.R. Wei; D. Bonnet; X. Duval; N. Null; Q. Pan-Hammarström; A.M. Plana; I. Meyt; F. Haerynck; A. Pujol; V. Sancho-Shimizu; C.L. Dalgard; J. Bustamante; A. Puel; S. Boisson-Dupui; B. Boisson; T. Maniati; Q. Zhang; P. Bastard; L. Notarangelo; V. Béziat; R. Perez de Diego; C. Rodriguez-Gallego; H.C. Su; R.P. Lifton; E. Jouanguy; A. Cobat; L. Alsina; S. Kele; E. Haddad; L. Abel; A. Belot; L. Quintana-Murci |
| Publisher Information: |
American Association for the Advancement of Science |
| Publication Year: |
2023 |
| Collection: |
The University of Milan: Archivio Istituzionale della Ricerca (AIR) |
| Subject Terms: |
Settore MEDS-20/A - Pediatria generale e specialistica |
| Description: |
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. |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| Relation: |
info:eu-repo/semantics/altIdentifier/pmid/36538032; info:eu-repo/semantics/altIdentifier/wos/WOS:001052667200001; volume:379; issue:6632; firstpage:1; lastpage:21; numberofpages:21; journal:SCIENCE; https://hdl.handle.net/2434/1116488 |
| DOI: |
10.1126/science.abo3627 |
| Availability: |
https://hdl.handle.net/2434/1116488; https://doi.org/10.1126/science.abo3627 |
| Rights: |
info:eu-repo/semantics/openAccess |
| Accession Number: |
edsbas.19565408 |
| Database: |
BASE |