Makale
Tam Makale
Uluslararası
2023
Açık erişimli
Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children
SCIENCE
Cilt 379 · Sayı 6632 · 10.02.2023
Özet
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.
Sürdürülebilir Kalkınma Amaçları
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SKA 3: Sağlıklı Bireyler
Atıf için künye
Lee, D., Le Pen, J., Yatim, A., Dong, B., Aquino, Y., Ogishi, M., Pescarmona, R., Talouarn, E., Rinchai, D., Zhang, P., Perret, M., Liu, Z., Jordan, I., Bozdemir, S. E., Bayhan, G. I., Beaufils, C., Bizien, L., Bisiaux, A., Lei, W., … Zuccotti, G. (2023). Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children. SCIENCE, 379(6632). https://doi.org/10.1126/science.abo3627
BibTeX
@article{lee2023-223563,
author = {Lee, Danyel and Le Pen, Jérémie and Yatim, Ahmad and Dong, Beihua and Aquino, Yann and Ogishi, Masato and Pescarmona, Rémi and Talouarn, Estelle and Rinchai, Darawan and Zhang, Peng and Perret, Magali and Liu, Zhiyong and Jordan, Iolanda and Bozdemir, Sefika Elmas and Bayhan, Gulsum Iclal and Beaufils, Camille and Bizien, Lucy and Bisiaux, Aurelie and Lei, Weite and Hasan, Milena and Chen, Jie and Gaughan, Christina and Asthana, Abhishek and Libri, Valentina and Luna, Joseph M. and Jaffré, Fabrice and Hoffmann, H.-Heinrich and Michailidis, Eleftherios and Moreews, Marion and Seeleuthner, Yoann and Bilguvar, Kaya and Mane, Shrikant and Flores, Carlos and Zhang, Yu and Arias, Andrés A. and Bailey, Rasheed and Schlüter, Agatha and Milisavljevic, Baptiste and Bigio, Benedetta and Le Voyer, Tom and Materna, Marie and Gervais, Adrian and Moncada-Velez, Marcela and Pala, Francesca and Lazarov, Tomi and Levy, Romain and Neehus, Anna-Lena and Rosain, Jérémie and Peel, Jessica and Chan, Yi-Hao and Morin, Marie-Paule and Pino-Ramirez, Rosa Maria and Belkaya, Serkan and Lorenzo, Lazaro and Anton, Jordi and Delafontaine, Selket and Toubiana, Julie and Bajolle, Fanny and Fumadó, Victoria and DeDiego, Marta L. and Fidouh, Nadhira and Rozenberg, Flore and Pérez-Tur, Jordi and Chen, Shuibing and Evans, Todd and Geissmann, Frédéric and Lebon, Pierre and Weiss, Susan R. and Bonnet, Damien and Duval, Xavier and Pan-Hammarström, Qiang and Planas, Anna M. and Meyts, Isabelle and Haerynck, Filomeen and Pujol, Aurora and Sancho-Shimizu, Vanessa and Dalgard, Clifford L. and Bustamante, Jacinta and Puel, Anne and Boisson-Dupuis, Stéphanie and Boisson, Bertrand and Maniatis, Tom and Zhang, Qian and Bastard, Paul and Notarangelo, Luigi and Béziat, Vivien and de Diego, Rebeca Perez and Rodriguez-Gallego, Carlos and Su, Helen C. and Lifton, Richard P. and Jouanguy, Emmanuelle and Cobat, Aurélie and Alsina, Laia and Keles, Sevgi and Haddad, Elie and Abel, Laurent and Belot, Alexandre and Quintana-Murci, Lluis and Rice, Charles M. and Silverman, Robert H. and Zhang, Shen-Ying and Casanova, Jean-Laurent and Alavoine, Loubna and Behillil, Sylvie and Burdet, Charles and Charpentier, Charlotte and Dechanet, Aline and Descamps, Diane and Ecobichon, Jean-Luc and Enouf, Vincent and Frezouls, Wahiba and Houhou, Nadhira and Kafif, Ouifiya and Lehacaut, Jonathan and Letrou, Sophie and Lina, Bruno and Lucet, Jean-Christophe and Manchon, Pauline and Nouroudine, Mariama and Piquard, Valentine and Quintin, Caroline and Thy, Michael and Tubiana, Sarah and van der Werf, Sylvie and Vignali, Valérie and Visseaux, Benoit and Yazdanpanah, Yazdan and Chahine, Abir and Waucquier, Nawal and Migaud, Maria-Claire and Deplanque, Dominique and Djossou, Félix and Mergeay-Fabre, Mayka and Lucarelli, Aude and Demar, Magalie and Bruneau, Léa and Gérardin, Patrick and Maillot, Adrien and Payet, Christine and Laviolle, Bruno and Laine, Fabrice and Paris, Christophe and Desille-Dugast, Mireille and Fouchard, Julie and Malvy, Denis and Nguyen, Duc and Pistone, Thierry and Perreau, Pauline and Gissot, Valérie and Le Goas, Carole and Montagne, Samatha and Richard, Lucie and Chirouze, Catherine and Bouiller, Kévin and Desmarets, Maxime and Meunier, Alexandre and Lefèvre, Benjamin and Jeulin, Hélène and Legrand, Karine and Lomazzi, Sandra and Tardy, Bernard and Gagneux-Brunon, Amandine and Bertholon, Frédérique and Botelho-Nevers, Elisabeth and Christelle, Kouakam and Nicolas, Leturque and Roufai, Layidé and Amat, Karine and Couffin-Cadiergues, Sandrine and Espérou, Hélène and Hendou, Samia and Abolhassani, Hassan and Aguilera-Albesa, Sergio and Aiuti, Alessandro and Akcan, Ozge Metin and Akcay, Nihal and Alkan, Gulsum and Alkhater, Suzan A. and Allende, Luis Miguel and Alper, Yosunkaya and Amenzoui, Naima and Anderson, Mark S. and Arkin, Lisa and Aubart, Melodie and Avramenko, Iryna and Aydemir, Şehnaz and Aydin, Zeynep Gökçe Gayretli and Aytekin, Caner and Aytekin, Gökhan and Aytekin, Selma Erol and Bando, Silvia Yumi and Beland, Kathie and Biggs, Catherine M. and Aburto, Agurtzane Bilbao and Blanchard-Rohner, Geraldine and Blázquez-Gamero, Daniel and Bloomfield, Marketa and Bogunovic, Dusan and Bondarenko, Anastasia and Borghesi, Alessandro and Bousfiha, Amed Aziz and Boyarchuk, Oksana and Brodin, Petter and Bryceson, Yenan and Bucciol, Giorgia and Calcaterra, Valeria and Casari, Giorgio and Cavalcanti, Andre and Celik, Jale Bengi and Chrousos, George P. and Colobran, Roger and Condino-Neto, Antonio and Conti, Francesca and Cooper, Megan and Coskuner, Taner and Cyrus, Cyril and D'Auria, Enza and Drolet, Beth A. and Duramaz, Burcu Bursal and El Zein, Loubna and Elnagdy, Marwa H. and Emiroglu, Melike and Erdeniz, Emine Hafize and Fabi, Marianna and Feldman, Hagit Baris and Fellay, Jacques and Fencl, Filip and Filippatos, Filippos and Freiss, Julie and Fremuth, Jiri and Gagro, Alenka and Garcia-Solis, Blanca and Vergine, Gianluca and González-Montelongo, Rafaela and Gul, Yahya and Gülhan, Belgin and Gultekin, Sara Sebnem Kilic and Gut, Marta and Halwani, Rabih and Hammarström, Lennart and Hatipoǧlu, Nevin and Heath, James and Henrickson, Sarah E. and Hernandez-Brito, Elisa and Hoffman, Ilse and Hoste, Levi and Hsieh, Elena and Íñigo-Campos, Antonio and Itan, Yuval and Jabandziev, Petr and Kandemir, Bahar and Kanik-Yüksek, Saliha and Kapakli, Hasan and Karbuz, Adem and Kasapcopur, Ozgur and Kechiche, Robin and Demirkol, Yasemin Kendir and Kilic, Omer and Hansen, Stella Kim and Klocperk, Adam and Lau, Yu-Lung and Lebl, Jan and Lorenzo-Salazar, José M. and Lucas, Carrie L. and Maglorius, Majistor and Marque, Laura and Medina, Yeray Novoa and Melián, Abián Montesdeoca and Mentis, Alexios-Fotios A. and Pato, Michele T. and Michos, Athanasios and Milner, Joshua D. and Mogensen, Trine H. and Muñoz-Barrera, Adrián and Nepesov, Serdar and Neves, João Farela and Ng, Ashley and Ng, Lisa F.P. and Novelli, Antonio and Novelli, Giuseppe and Oz, Fatma Nur and Ocejo-Viñals, J. Gonzalo and Okada, Satoshi and Orbak, Zerrin and Kilic, Ahmet Osman and Ouair, Hind and Öz, Şadiye Kübra Tüter and Özçelik, Tayfun and Özkan, Esra Akyüz and Parlakay, Aslinur Özkaya and Pato, Carlos N. and Paz-Artal, Estela and Pelham, Simon and Pellier, Isabelle and Philippot, Quentin and Planas-Serra, Laura and Plassart, Samira and Pokorna, Petra and Polat, Meltem and Poli, Cecilia and Prando, Carolina and Renia, Laurent and Rivière, Jacques G. and Rodríguez-Palmero, Agustí and Roussel, Lucie and Rubio-Rodriguez, Luis A. and Salifu, Moro and Sasek, Lumir and Sasia, Laura and Scherbina, Anna and Schmitt, Erica and Sediva, Anna and Sevketoglu, Esra and Slaba, Katerina and Slaby, Ondrej and Sobh, Ali and Solé-Violán, Jordi and Soler-Palacin, Pere and De Somer, Lien and Sözeri, Betül and Spaan, András N. and Stepanovskiy, Yuriy and Tangye, Stuart G. and Tanir, Gonul and Tatsi, Elizabeth-Barbara and Thorball, Christian W. and Torun, Selda Hancerli and Turvey, Stuart and Tayoun, Ahmad Abou and Ramaswamy, Sathishkumar and Uddin, Mohammed J. and Uyar, Emel and Valencia-Ramos, Juan and Van Den Rym, Ana Maria and Vatansev, Hulya and de Vera, Martín Castillo and Vermeulen, François and Vinh, Donald C. and Volokha, Alla and von Bernuth, Horst and Wouters, Carine and Yahşi, Aysun and Yarar, Volkan and Yesilbas, Osman and Yildiz, Mehmet and Zatz, Mayana and Zawadzki, Pawel and Zuccotti, Gianvincenzo},
title = {Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children},
journal = {SCIENCE},
year = {2023},
volume = {379},
number = {6632},
issn = {0036-8075},
doi = {10.1126/science.abo3627},
url = {https://akademik.atauni.edu.tr/yayinlar/223563-inborn-errors-of-oas-rnase-l-in-sars-cov-2-related-multisystem-inflammatory}
}