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3. DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling

Author

Tusseau, Maud, Lovšin, Ema, Samaille, Charlotte, Pescarmona, Rémi, Mathieu, Anne-Laure, Maggio, Maria-Cristina, Selmanović, Velma, Debeljak, Marusa, Dachy, Angelique, Novljan, Gregor, Janin, Alexandre, Januel, Louis, Gibier, Jean-Baptiste, Chopin, Emilie, Rouvet, Isabelle, Goncalves, David, Fabien, Nicole, Rice, Gillian I, Lesca, Gaétan, Labalme, Audrey, Romagnani, Paola, Walzer, Thierry, Viel, Sebastien, Perret, Magali, Crow, Yanick J., Avčin, Tadej, Cimaz, Rolando, and Belot, Alexandre

Published
2022
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6. Pre–Covid-19, SARS-CoV-2–Negative Multisystem Inflammatory Syndrome in Children

Author

Benezech, Sarah, primary, Khoryati, Liliane, additional, Cognard, Jade, additional, Netea, Stejara A., additional, Khan, Taushif, additional, Moreews, Marion, additional, Saker, Kahina, additional, De Guillebon, Jean-Marie, additional, Khaldi-Plassart, Samira, additional, Pescarmona, Rémi, additional, Viel, Sebastien, additional, Malcus, Christophe, additional, Perret, Magali, additional, Ar Gouilh, Meriadeg, additional, Vabret, Astrid, additional, Venet, Fabienne, additional, Remy, Solenn, additional, Chopin, Emilie, additional, Lina, Gérard, additional, Vandenesch, François, additional, Rousseaux, Noëmi, additional, Bastard, Paul, additional, Zhang, Shen-Ying, additional, Casanova, Jean-Laurent, additional, Trouillet-Assant, Sophie, additional, Walzer, Thierry, additional, Kuijpers, Taco W., additional, Javouhey, Etienne, additional, Dauwalder, Olivier, additional, Marr, Nico, additional, and Belot, Alexandre, additional

Published
2023
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8. Une étiologie rare de lupus érythémateux systémique.

Author

Canet, Hadrien and Pescarmona, Rémi

Abstract

Un nourrisson âgé de 9 mois a consulté un dermatologue pour des éruptions cutanées au niveau du visage et des ulcérations buccales. Le bilan initial a mis en évidence des auto-anticorps de type lupique et le diagnostic de lupus éry-thé-mateux systémique a été posé à l'âge de 12 mois. Un an plus tard, les résultats génétiques et l'analyse approfondie du complément ont révélé un déficit en C1 q dû à une mutation autosomique récessive sur le gène C 1 QA. La patiente a été traitée par greffe de cellules souches hématopoïétiques qui a permis de normaliser les concentrations en C1 q. A 9-month-old infant consulted a dermatologist for facial rashes and mouth ulcerations. The initial assessment revealed lupus-type autoantibodies and the diagnosis of systemic lupus erythematosus was made at the age of 12 months. One year later, genetic results and in-depth complement analysis revealed C1 q deficiency due to an autosomal recessive mutation in the C1QA gene. The patient was treated with hematopoietic stem cell transplantation which normalized C1 q concentrations. [ABSTRACT FROM AUTHOR]

Published
2023
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10. Basal serum tryptase: a critical reconsideration of reference values

Author

LAMBERT, Claude, primary, FRANCOIS, Fabien, additional, MAUFF, Brigitte LE, additional, WAECKEL, Louis, additional, Chaisemartin, Luc de, additional, Tabary, Thierry, additional, Dumontet, Erwan, additional, Lecron, Jean-Claude, additional, DELAMARE, Benoit, additional, BOUMEDIENE, Ahmed, additional, Grenier, Angélique, additional, Pescarmona, Rémi, additional, and GARNIER, Lorna, additional

Published
2022
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11. COVID-19 pandemic-associated chilblains: more links for SARS-CoV-2 and less evidence for high interferon type I systemic response

Author

Bessis, Didier, primary, Trouillet-Assant, Sophie, additional, Secco, Léo-Paul, additional, Bardin, Nathalie, additional, Blanc, Brigitte, additional, Blatière, Véronique, additional, Chable-Bessia, Christine, additional, Delfour, Christophe, additional, Girard, Céline, additional, Richard, Jean-Christophe, additional, Gros, Nathalie, additional, Le Moing, Vincent, additional, Molinari, Nicolas, additional, Pallure, Valérie, additional, Pisoni, Amandine, additional, Raison-Peyron, Nadia, additional, Reynaud, Elisa, additional, Schwob, Émilie, additional, Pescarmona, Rémi, additional, Samaran, Quentin, additional, Willems, Marjolaine, additional, Vincent, Thierry, additional, Sofonea, Mircea T., additional, Belot, Alexandre, additional, and Tuaillon, Édouard, additional

Published
2022
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12. Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children

Author

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, Jaffré, Fabrice, Hoffmann, H.-Heinrich, Michailidis, Eleftherios, Moreews, Marion, Seeleuthner, Yoann, Bilguvar, Kaya, Mane, Shrikant, Flores, Carlos, Zhang, Yu, Arias, Andrés, 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, Fidouh, Nadhira, Rozenberg, Flore, Pérez-Tur, Jordi, Chen, Shuibing, Evans, Todd, Geissmann, Frédéric, Lebon, Pierre, Weiss, Susan, Bonnet, Damien, Duval, Xavier, Pan-Hammarström, Qiang, Planas, Anna, Meyts, Isabelle, Haerynck, Filomeen, Pujol, Aurora, Sancho-Shimizu, Vanessa, Dalgard, Clifford, 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, Lifton, Richard, Jouanguy, Emmanuelle, Cobat, Aurélie, Alsina, Laia, Keles, Sevgi, Haddad, Elie, Abel, Laurent, Belot, Alexandre, Quintana-Murci, Lluis, Rice, Charles, Silverman, Robert, 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, Allende, Luis Miguel, Alper, Yosunkaya, Amenzoui, Naima, Anderson, Mark, 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, 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, Colobran, Roger, Condino-Neto, Antonio, Conti, Francesca, Cooper, Megan, Coskuner, Taner, Cyrus, Cyril, D’auria, Enza, Drolet, Beth, Bursal Duramaz, Burcu, El Zein, Loubna, Elnagdy, Marwa, 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, 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, Lucas, Carrie, Maglorius, Majistor, Marque, Laura, Novoa Medina, Yeray, Montesdeoca Melián, Abián, Mentis, Alexios-Fotios, Pato, Michele, Michos, Athanasios, Milner, Joshua, Mogensen, Trine, Muñoz-Barrera, Adrián, Nepesov, Serdar, Farela Neves, João, Ng, Ashley, Ng, Lisa, 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, 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, Rodríguez-Palmero, Agustí, Roussel, Lucie, Rubio-Rodriguez, Luis, 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, Stepanovskiy, Yuriy, Tangye, Stuart, Tanir, Gonul, Tatsi, Elizabeth Barbara, Thorball, Christian, Hancerli Torun, Selda, Turvey, Stuart, Uddin, Mohammed, Uyar, Emel, Valencia-Ramos, Juan, van den Rym, Ana Maria, Vatansev, Hulya, Castillo de Vera, Martín, Vermeulen, François, Vinh, Donald, Volokha, Alla, von Bernuth, Horst, Wouters, Carine, Yahşi, Aysun, Yarar, Volkan, Yesilbas, Osman, Yıldız, Mehmet, Zatz, Mayana, Zawadzki, Pawel, Zuccotti, Gianvincenzo, Rockefeller University [New York], Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Institut de génétique humaine (IGH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Génomique évolutive, modélisation et santé (GEMS), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Centre International de Recherche en Infectiologie (CIRI), École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre de référence des rhumatismes inflammatoires et maladies auto-immunes systémiques rares de l’enfant / National Referee Centre for Rheumatic and AutoImmune and Systemic Diseases in Children [Lyon] (RAISE), Hospices Civils de Lyon (HCL), Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Génétique Physiologie et Systèmes d'Elevage (GenPhySE ), Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université de Toulouse (UT)-Université de Toulouse (UT)-École nationale supérieure agronomique de Toulouse (ENSAT), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Sidra Medicine [Doha, Qatar], BIOASTER Technology Research Institute, Lyon, France, St. Giles Laboratory of Human Genetics of Infectious Diseases, Department of Paediatrics and Intensive Care, Hospital Universitari Sant Joan de Deu, Human genetics of infectious diseases : Mendelian predisposition (Equipe Inserm U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Département de Pédiatrie et maladies infectieuses [CHU Necker], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Génétique Evolutive Humaine - Human Evolutionary Genetics, Centre de Recherche Translationnelle - Center for Translational Science (CRT), Institut Pasteur [Paris] (IP)-Université Paris Cité (UPCité), Shanghai Jiaotong University, Sheffield Hallam University, Institut Jean Lamour (IJL), Institut de Chimie du CNRS (INC)-Université de Lorraine (UL)-Centre National de la Recherche Scientifique (CNRS), Institut Pasteur [Paris] (IP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Infection, Anti-microbiens, Modélisation, Evolution (IAME (UMR_S_1137 / U1137)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Université Sorbonne Paris Nord, Centre d'investigation Clinique [CHU Bichat] - Épidémiologie clinique (CIC 1425), AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Biodiversité et Epidémiologie des Bactéries pathogènes - Biodiversity and Epidemiology of Bacterial Pathogens, Centre d'Investigation Clinique - Innovation Technologique de Lille - CIC 1403 - CIC 9301 (CIC Lille), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre d'Investigation Clinique Antilles-Guyane (CIC - Antilles Guyane), Université des Antilles et de la Guyane (UAG)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pointe-à-Pitre/Abymes [Guadeloupe] -CHU de Fort de France-Centre Hospitalier Andrée Rosemon [Cayenne, Guyane Française], Centre d'Investigation Clinique de La Réunion - INSERM (CIC 1410), Université de La Réunion (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Universitaire de La Réunion (CHU La Réunion), Centre d'Investigation Clinique [Rennes] (CIC), Université de Rennes (UR)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Pontchaillou [Rennes], 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)., ANR-10-IAHU-0001,Imagine,Institut Hospitalo-Universitaire Imagine(2010), ANR-10-LABX-0062,IBEID,Integrative Biology of Emerging Infectious Diseases(2010), ANR-21-COVR-0039,GenMIS-C,Recherche des Déficits immunitaires innées monogéniques prédisposant au syndrome inflammatoire multisystémique chez l'enfant.(2021), ANR-20-CE93-0003,GENVIR,Analyse multi-omique de l'immunité anti-virale: de l'identification des circuits biologiques pertinents à la découverte de défauts monogéniques héréditaires de l'immunité chez les patients avec infections virales sévères(2020), ANR-20-CO11-0001,AABIFNCOV,Bases génétiques et immunologiques des auto-anticorps contre les interférons de type I prédisposant aux formes sévères de COVID-19.(2020), ANR-21-RHUS-0008,COVIFERON,Covid-19 and interferons: from discovery to therapy(2021), ANR-10-LABX-0069,MILIEU INTERIEUR,GENETIC & ENVIRONMENTAL CONTROL OF IMMUNE PHENOTYPE VARIANCE: ESTABLISHING A PATH TOWARDS PERSONALIZED MEDICINE(2010), ANR-21-CO14-0003,COVID-19-POPCELL,Facteurs génétiques et infectieux à l'origine de la variabilité populationnelle de la réponse immunitaire à l'infection par le SARS-CoV-2(2021), European Project: 824110,H2020-INFRAIA-2018-1,EASI-Genomics(2019), European Project: 101057100,UNDINE, Howard Hughes Medical Institute, Rockefeller University, St. Giles Foundation, National Institutes of Health (US), Instituto de Salud Carlos III, Ministerio de Ciencia e Innovación (España), Fundación Mapfre, Cabildo de Tenerife, Fundació La Marató de TV3, Centro de Investigación Biomédica en Red Enfermedades Raras (España), Consejo Superior de Investigaciones Científicas (España), European Commission, and Pérez-Tur, Jordi

Subjects
Multidisciplinary, Settore MED/03, [SDV]Life Sciences [q-bio], Medicine and Health Sciences, CoV-Contact Cohort§
Abstract

62 páginas, 5 figuras, 2 tablas, 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, 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).

Published
2023

13. T cell response against SARS-CoV-2 persists after one year in patients surviving severe COVID-19

Author

Venet, Fabienne, primary, Gossez, Morgane, additional, Bidar, Frank, additional, Bodinier, Maxime, additional, Coudereau, Rémy, additional, Lukaszewicz, Anne-Claire, additional, Tardiveau, Claire, additional, Brengel-Pesce, Karen, additional, Cheynet, Valérie, additional, Cazalis, Marie-Angélique, additional, Pescarmona, Rémi, additional, Garnier, Lorna, additional, Ortillon, Marine, additional, Buisson, Marielle, additional, Bouscambert-Duchamp, Maude, additional, Morfin-Sherpa, Florence, additional, Casalegno, Jean-Sébastien, additional, Conti, Filippo, additional, Rimmelé, Thomas, additional, Argaud, Laurent, additional, Cour, Martin, additional, Saadatian-Elahi, Mitra, additional, Henaff, Laetitia, additional, Vanhems, Philippe, additional, and Monneret, Guillaume, additional

Published
2022
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15. Type I IFN immunoprofiling in COVID-19 patients

Author

Mouton, William, Oriol, Guy, Compagnon, Christelle, Generenaz, Laurence, Cheynet, Valérie, Ader, Florence, Becker, Agathe, Benech, Nicholas, Chauvelot, Pierre, Chidiac, Christian, Conrad, Anne, Ferry, Tristan, Miailhes, Patrick, Perpoint, Thomas, Perry, Marielle, Pouderoux, Cécile, Roux, Sandrine, Triffault-Fillit, Claire, Valour, Florent, Hodane, Yonis, Chauvelot, Louis, Chabert, Paul, Provoost, Judith, David, Guillaume, Folliet, Laure, Lecam, Pierre, Billaud, Geneviève, Bouscambert, Maude, Escuret, Vanessa, Frobert, Emilie, Bal, Antonin, Destras, Grégory, Josset, Laurence, Morfin, Florence, Munier, Clément, Valette, Martine, Venet, Fabienne, Garnier, Lorna, Pescarmona, Rémi, Lombard, Christine, Walzer, Thierry, Trouillet-Assant, Sophie, Viel, Sebastien, Gaymard, Alexandre, Pons, Sylvie, Richard, Jean-Christophe, Perret, Magali, Villard, Marine, Brengel-Pesce, Karen, Lina, Bruno, Mezidi, Mehdi, Bitker, Laurent, and Belot, Alexandre

Published
2020
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16. Polyclonal expansion of TCR Vb 21.3 + CD4 + and CD8 + T cells is a hallmark of multisystem inflammatory syndrome in children

Author

Moreews, Marion, primary, Le Gouge, Kenz, additional, Khaldi-Plassart, Samira, additional, Pescarmona, Rémi, additional, Mathieu, Anne-Laure, additional, Malcus, Christophe, additional, Djebali, Sophia, additional, Bellomo, Alicia, additional, Dauwalder, Olivier, additional, Perret, Magali, additional, Villard, Marine, additional, Chopin, Emilie, additional, Rouvet, Isabelle, additional, Vandenesch, Francois, additional, Dupieux, Céline, additional, Pouyau, Robin, additional, Teyssedre, Sonia, additional, Guerder, Margaux, additional, Louazon, Tiphaine, additional, Moulin-Zinsch, Anne, additional, Duperril, Marie, additional, Patural, Hugues, additional, Giovannini-Chami, Lisa, additional, Portefaix, Aurélie, additional, Kassai, Behrouz, additional, Venet, Fabienne, additional, Monneret, Guillaume, additional, Lombard, Christine, additional, Flodrops, Hugues, additional, De Guillebon, Jean-Marie, additional, Bajolle, Fanny, additional, Launay, Valérie, additional, Bastard, Paul, additional, Zhang, Shen-Ying, additional, Dubois, Valérie, additional, Thaunat, Olivier, additional, Richard, Jean-Christophe, additional, Mezidi, Mehdi, additional, Allatif, Omran, additional, Saker, Kahina, additional, Dreux, Marlène, additional, Abel, Laurent, additional, Casanova, Jean-Laurent, additional, Marvel, Jacqueline, additional, Trouillet-Assant, Sophie, additional, Klatzmann, David, additional, Walzer, Thierry, additional, Mariotti-Ferrandiz, Encarnita, additional, Javouhey, Etienne, additional, and Belot, Alexandre, additional

Published
2021
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17. Low incidence of COVID-19 severe complications in a large cohort of children with sickle cell disease: a protective role for basal interferon-1 activation?

Author

Brousse, Valentine, primary, Holvoet, Laurent, additional, Pescarmona, Rémi, additional, Viel, Sebastien, additional, Perret, Magali, additional, Visseaux, Benoit, additional, Ferre, Valentine Marie, additional, Ithier, Ghislaine, additional, Le Van Kim, Caroline, additional, Benkerrou, Malika, additional, Missud, Florence, additional, and Koehl, Berengere, additional

Published
2021
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18. LACC1 deficiency links juvenile arthritis with autophagy and metabolism in macrophages

Author

Omarjee, Ommar, primary, Mathieu, Anne-Laure, additional, Quiniou, Gaëlle, additional, Moreews, Marion, additional, Ainouze, Michelle, additional, Frachette, Cécile, additional, Melki, Isabelle, additional, Dumaine, Cécile, additional, Gerfaud-Valentin, Mathieu, additional, Duquesne, Agnès, additional, Kallinich, Tilmann, additional, Tahir Turanli, Eda, additional, Malcus, Christophe, additional, Viel, Sébastien, additional, Pescarmona, Rémi, additional, Georgin-Lavialle, Sophie, additional, Jamilloux, Yvan, additional, Larbre, Jean-Paul, additional, Sarrabay, Guillaume, additional, Magnotti, Flora, additional, Rice, Gillian I., additional, Bleicher, Francoise, additional, Reboulet, Jonathan, additional, Merabet, Samir, additional, Henry, Thomas, additional, Crow, Yanick J., additional, Faure, Mathias, additional, Walzer, Thierry, additional, and Belot, Alexandre, additional

Published
2021
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19. Antibodies against type I interferon: detection and association with severe clinical outcome in COVID‐19 patients

Author

Goncalves, David, primary, Mezidi, Mehdi, additional, Bastard, Paul, additional, Perret, Magali, additional, Saker, Kahina, additional, Fabien, Nicole, additional, Pescarmona, Rémi, additional, Lombard, Christine, additional, Walzer, Thierry, additional, Casanova, Jean‐Laurent, additional, Belot, Alexandre, additional, Richard, Jean‐Christophe, additional, and Trouillet‐Assant, Sophie, additional

Published
2021
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20. Type I IFN immunoprofiling in COVID-19 patients

Author

Trouillet-Assant, Sophie, primary, Viel, Sebastien, additional, Gaymard, Alexandre, additional, Pons, Sylvie, additional, Richard, Jean-Christophe, additional, Perret, Magali, additional, Villard, Marine, additional, Brengel-Pesce, Karen, additional, Lina, Bruno, additional, Mezidi, Mehdi, additional, Bitker, Laurent, additional, Belot, Alexandre, additional, Mouton, William, additional, Oriol, Guy, additional, Compagnon, Christelle, additional, Generenaz, Laurence, additional, Cheynet, Valérie, additional, Ader, Florence, additional, Becker, Agathe, additional, Benech, Nicholas, additional, Chauvelot, Pierre, additional, Chidiac, Christian, additional, Conrad, Anne, additional, Ferry, Tristan, additional, Miailhes, Patrick, additional, Perpoint, Thomas, additional, Perry, Marielle, additional, Pouderoux, Cécile, additional, Roux, Sandrine, additional, Triffault-Fillit, Claire, additional, Valour, Florent, additional, Hodane, Yonis, additional, Chauvelot, Louis, additional, Chabert, Paul, additional, Provoost, Judith, additional, David, Guillaume, additional, Folliet, Laure, additional, Lecam, Pierre, additional, Billaud, Geneviève, additional, Bouscambert, Maude, additional, Escuret, Vanessa, additional, Frobert, Emilie, additional, Bal, Antonin, additional, Destras, Grégory, additional, Josset, Laurence, additional, Morfin, Florence, additional, Munier, Clément, additional, Valette, Martine, additional, Venet, Fabienne, additional, Garnier, Lorna, additional, Pescarmona, Rémi, additional, Lombard, Christine, additional, and Walzer, Thierry, additional

Published
2020
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21. Emergence of immunosuppressive LOX‐1+ PMN‐MDSC in septic shock and severe COVID‐19 patients with acute respiratory distress syndrome.

Author

Coudereau, Rémy, Waeckel, Louis, Cour, Martin, Rimmele, Thomas, Pescarmona, Rémi, Fabri, Astrid, Jallades, Laurent, Yonis, Hodane, Gossez, Morgane, Lukaszewicz, Anne‐Claire, Argaud, Laurent, Venet, Fabienne, and Monneret, Guillaume

Subjects
ADULT respiratory distress syndrome, SEPTIC shock, MYELOID-derived suppressor cells, COVID-19, LOW density lipoprotein receptors, CORONAVIRUS diseases
Abstract

Myeloid‐derived suppressor cells (MDSC) are a heterogeneous population of immature myeloid cells with immunosuppressive properties. In cancer patients, the expression of lectin‐type oxidized LDL receptor 1 (LOX‐1) on granulocytic MDSC identifies a subset of MDSC that retains the most potent immunosuppressive properties. The main objective of the present work was to explore the presence of LOX‐1+ MDSC in bacterial and viral sepsis. To this end, whole blood LOX‐1+ cells were phenotypically, morphologically, and functionally characterized. They were monitored in 39 coronavirus disease‐19 (COVID‐19, viral sepsis) and 48 septic shock (bacterial sepsis) patients longitudinally sampled five times over a 3 wk period in intensive care units (ICUs). The phenotype, morphology, and immunosuppressive functions of LOX‐1+ cells demonstrated that they were polymorphonuclear MDSC. In patients, we observed the significant emergence of LOX‐1+ MDSC in both groups. The peak of LOX‐1+ MDSC was 1 wk delayed with respect to ICU admission. In COVID‐19, their elevation was more pronounced in patients with acute respiratory distress syndrome. The persistence of these cells may contribute to long lasting immunosuppression leaving the patient unable to efficiently resolve infections. [ABSTRACT FROM AUTHOR]

Published
2022
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22. Comparison of RT-qPCR and Nanostring in the measurement of blood interferon response for the diagnosis of type I interferonopathies

Author

Pescarmona, Rémi, primary, Belot, Alexandre, additional, Villard, Marine, additional, Besson, Laurie, additional, Lopez, Jonathan, additional, Mosnier, Isabelle, additional, Mathieu, Anne-Laure, additional, Lombard, Christine, additional, Garnier, Lorna, additional, Frachette, Cécile, additional, Walzer, Thierry, additional, and Viel, Sébastien, additional

Published
2019
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23. Polyclonal expansion of TCR Vβ 21.3+ CD4+ and CD8+ T cells is a hallmark of multisystem inflammatory syndrome in children.

Author

Moreews, Marion, Le Gouge, Kenz, Khaldi-Plassart, Samira, Pescarmona, Rémi, Mathieu, Anne-Laure, Malcus, Christophe, Djebali, Sophia, Bellomo, Alicia, Dauwalder, Olivier, Perret, Magali, Villard, Marine, Chopin, Emilie, Rouvet, Isabelle, Vandenesch, Francois, Dupieux, Céline, Pouyau, Robin, Teyssedre, Sonia, Guerder, Margaux, Louazon, Tiphaine, and Moulin-Zinsch, Anne

Abstract

MIS-C's unique TCR repertoire: Multisystem inflammatory syndrome in children (MIS-C) is a severe complication that develops in children previously infected with SARS-CoV-2, with similar features to Kawasaki disease (KD) and toxic shock syndrome (TSS). It is still unclear what immunologic correlates differentiate MIS-C from KD and TSS. Here, Moreews et al. looked at the circulating T cell repertoire and phenotype of 36 patients with MIS-C, 16 with KD, 58 with TSS, and 42 with COVID-19. They found that 75% of patients with MIS-C, and none from the other groups, expressed the Vβ21.3 T cell receptor β chain variable region in both CD4 and CD8 T cells. These cells had an activated and vascular patrolling phenotype but were not specific to SARS-CoV-2. Together, this work shows unique T cell responses in patients with MIS-C after convalescence. Multisystem inflammatory syndrome in children (MIS-C) is a delayed and severe complication of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection that strikes previously healthy children. As MIS-C combines clinical features of Kawasaki disease (KD) and toxic shock syndrome (TSS), we aimed to compare the immunological profile of pediatric patients with these different conditions. We analyzed blood cytokine expression and the T cell repertoire and phenotype in 36 MIS-C cases, which were compared with 16 KD, 58 TSS, and 42 coronavirus disease 2019 (COVID-19) cases. We observed an increase of serum inflammatory cytokines (IL-6, IL-10, IL-18, TNF-α, IFN-γ, sCD25, MCP1, and IL-1RA) in MIS-C, TSS, and KD, contrasting with low expression of HLA-DR in monocytes. We detected a specific expansion of activated T cells expressing the Vβ21.3 T cell receptor β chain variable region in both CD4 and CD8 subsets in 75% of patients with MIS-C and not in any patient with TSS, KD, or acute COVID-19; this correlated with the cytokine storm detected. The T cell repertoire returned to baseline within weeks after MIS-C resolution. Vβ21.3+ T cells from patients with MIS-C expressed high levels of HLA-DR, CD38, and CX3CR1 but had weak responses to SARS-CoV-2 peptides in vitro. Consistently, the T cell expansion was not associated with specific classical HLA alleles. Thus, our data suggested that MIS-C is characterized by a polyclonal Vβ21.3 T cell expansion not directed against SARS-CoV-2 antigenic peptides, which is not seen in KD, TSS, and acute COVID-19. [ABSTRACT FROM AUTHOR]

Published
2021
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24. Deletion of Inflammasome Components Is Not Sufficient To Prevent Fatal Inflammation in Models of Familial Hemophagocytic Lymphohistiocytosis

Author

Fauteux-Daniel, Sébastien, primary, Viel, Sébastien, additional, Besson, Laurie, additional, Zhang, Jiang, additional, Marotel, Marie, additional, Mathieu, Anne-Laure, additional, Pescarmona, Rémi, additional, Charrier, Emily, additional, Henry, Thomas, additional, Belot, Alexandre, additional, and Walzer, Thierry, additional

Published
2018
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27. Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children.

Author

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, Elmas Bozdemir S, Bayhan GI, Beaufils C, Bizien L, Bisiaux A, Lei W, Hasan M, Chen J, Gaughan C, Asthana A, Libri V, Luna JM, Jaffré F, Hoffmann HH, Michailidis E, Moreews M, Seeleuthner Y, Bilguvar K, Mane S, Flores C, Zhang Y, Arias AA, Bailey R, Schlüter A, Milisavljevic B, Bigio B, Le Voyer T, Materna M, Gervais A, Moncada-Velez M, Pala F, Lazarov T, Levy R, Neehus AL, Rosain J, Peel J, Chan YH, Morin MP, Pino-Ramirez RM, Belkaya S, Lorenzo L, Anton J, Delafontaine S, Toubiana J, Bajolle F, Fumadó V, DeDiego ML, Fidouh N, Rozenberg F, Pérez-Tur J, Chen S, Evans T, Geissmann F, Lebon P, Weiss SR, Bonnet D, Duval X, Pan-Hammarström Q, Planas AM, Meyts I, Haerynck F, Pujol A, Sancho-Shimizu V, Dalgard CL, Bustamante J, Puel A, Boisson-Dupuis S, Boisson B, Maniatis T, Zhang Q, Bastard P, Notarangelo L, Béziat V, Perez de Diego R, Rodriguez-Gallego C, Su HC, Lifton RP, Jouanguy E, Cobat A, Alsina L, Keles S, Haddad E, Abel L, Belot A, Quintana-Murci L, Rice CM, Silverman RH, Zhang SY, and Casanova JL

Subjects
Child, Humans, RNA, Double-Stranded, COVID-19 immunology, Cytokines genetics, Cytokines immunology, Endoribonucleases genetics, Endoribonucleases metabolism, SARS-CoV-2 genetics, Systemic Inflammatory Response Syndrome genetics
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 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.

Published
2023
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