Accès ouvert déclaré
2024
article
Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C)
Evangelos Bellos, David Santillo, Pierre Vantourout, Heather Jackson, Amédine Duret, Henry J. Hearn, Yoann Seeleuthner, Estelle Talouarn, Stephanie Hodeib, Harsita Patel, Oliver Powell, Sophya Yeoh, Dominic Habgood-Coote, Samuel J. Nichols, Leire Estramiana Elorrieta, Giselle D’Souza, Victoria Wright, Diego Estrada‐Rivadeneyra, Adriana H. Tremoulet, Kirsten Dummer, Stejara A. Netea, Antônio Condino‐Neto, YL Lau, Esmeralda Núñez Cuadros, Julie Toubiana, M.S. Holanda Peña, Frédéric Rieux‐Laucat, Charles‐Édouard Luyt, Filomeen Haerynck, Jean‐Louis Mège, Samya Chakravorty, Élie Haddad, Marie‐Paule Morin, Özge Metin Akcan, Sevgi Keleş, Melike Emiroğlu, Gülsüm Alkan, Şadiye Kübra Tüter Öz, Şefika Elmas Bozdemir, Guillaume Morelle, Алла Волоха, Yasemin Kendir Demirkol, Betül Sözeri, Taner Çoşkuner, Aysun Yahşi, Belgi̇n Gülhan, Saliha Kanık Yüksek, Gülsüm İclal Bayhan, Aslınur Özkaya Parlakay, Osman Yeşilbaş, Nevin Hatipoğlu, Tayfun Özçelık, Alexandre Bélot, Emilie Chopin, Vincent Barlogis, Esra Şevketoğlu, Mehmet Emin Menentoğlu, Zeynep Gökçe Gayretli Aydın, Markéta Bloomfield, Suzan A. AlKhater, Cyril Cyrus, Yuriy Stepanovskyy, Анастасія Бондаренко, Fatma Nur Öz, Meltem Polat, Jiří Fremuth, Jan Lebl, Amyrath Geraldo, Emmanuelle Jouanguy, Alessandro Aiuti, Laia Alsina, Evangelos Andreakos, Ana de Andrés Martín, Catherine M. Biggs, A. Borghesi, Amed Aziz Bousfiha, Daniel Blázquez‐Gamero, Petter Brodin, Giorgio Casari, Jacques Fellay, Carlos Flores, Guy Gorochov, Emine Hafize Erdeniz, Lennart Hammarström, Y. García, Adem Karbuz, Adam Klocperk, Paloma Lapuente-Suanzes, Davood Mansouri, Trine H. Mogensen, Lisa F. P. Ng, Antonio Novelli, Giuseppe Novelli, Keisuke Okamoto, Satoshi Okada, Qiang Pan‐Hammarström, Graziano Pesole, Laurent Rénia, Carlos Rodríguez‐Gallego, Anna Šedivá, Mohammad Shahrooei, Pere Soler‐Palacín, András N. Spaan, Gönül Tanır, Ahmad Abou Tayoun, Şehime Gülsün Temel, Donald C. Vinh, Aubrey J. Cunnington, Jethro Herberg, Claire Broderick, Samuel Channon‐Wells, Samantha Cooray, Tisham De, Leire Estramia Elorrieta, Rachel Galassini, Shea Hamilton, James Kavangh, Ila Keren, Mahdi Moradi Marjaneh, Stephanie Menikou, Ruud Nijman, Ivana Pennisi, Ruth Reid, Priyen Shah, Ortensia Vito, Elizabeth Whittaker, Clare Wilson, Rebecca Womersley, A F Abdulla, Sarah Darnell, Sobia Mustafa, Pantelis Georgiou, Jesus-Rodriguez Manzano, Nicolas Moser, Michael J. Carter, Shane M. Tibby, Jonathan Cohen, Francesca Davis, Julia Kenny, Marie White, Matthew Fish, A.R. Jennings, Manu Shankar‐Hari, Katy Fidler, Dan Agranoff, Vivien Richmond, Mathhew Seal, Saul N. Faust, Dan Owen, Ruth Ensom, Sarah McKay, Mariya Shaji, Rachel Schranz, Prita Rughni, Amutha Anpanthar, Susan Liebeschuetz, Anna Riddell, Divya Divakaran, Louise Han, Nosheen Khalid, Ivone Lancoma Malcolm, Jessica Schofield, Teresa Simagan, Alasdair Bamford, Lauran O’Neill, Nazima Pathan, Esther Daubney, Melissa Heightman, Sarah Eisen, Terry Segal, Lucy Wellings, Simon B. Drysdale, Nicole Branch, Lisa Hamzah, Heather Jarman, Lisa Capozzi, Emma Gardiner, Robert J. Moots, Magda Nasher, Anita Hanson, Michelle Linforth, Séan O’Riordan, Akash Deep, Iván Caro, Fiona Shackley, Arianna Bellini, Stuart Gormley, Samira Neshat, Barnaby R. Scholefield, Ceri Robbins, Helen Winmill, Stéphane Paulus, Andrew J. Pollard, Mark Anthony, Sarah Hopton, Danielle Miller, Zoe Oliver, Sally Beer, Bryony Ward, Meeru Gurung, Puja Amatya, Bhishma Pokhrel, Sanjeev Man Bijukchhe, Madhav Chandra Gautam, Sarah Kelly, Peter O’Reilly, Sonu Shrestha, Federico Martinón‐Torres, Antonio Salas, Fernando Álvez González, Sonia Ares Gómez, Xabier Bello, Mirian Ben García, Fernando Caamaño Viña, Sandra Carnota, María José Currás-Tuala, Ana Dacosta Urbieta, Carlos Durán Suárez, Isabel Ferreirós-Vidal, Luisa García Vicente, Alberto Gómez‐Carballa, José Gómez Rial, Pilar Leboráns Iglesias, Narmeen Mallah, José María Martinón, Belén Mosquera Pérez Sánchez, Sara Pischedda, Sara Rey Vázquez, Irene Rivero‐Calle, Carmen Rodrı́guez-Tenreiro, Lorenzo Redondo-Collazo, Sonia Serén Fernández, Marisol Vilas Iglesias, Enitan D. Carrol, Elizabeth Cocklin, Rebecca Beckley, Abbey Bracken, Ceri Evans, Aakash Khanijau, Rebecca Lenihan, Nadia Lewis-Burke, Karen Newall, Sam Romaine, Jennifer Whitbread, Μαρία Τσολιά, Irini Eleftheriou, Νikos Spyridis, Maria Tambouratzi, Despoina Maritsi, Antonios Marmarinos, Marietta Xagorari, Lourida Panagiota, Pefanis Aggelos, Akinosoglou Karoli, Gogos Charalambos, Maragos Markos, Voulgarelis Michalis, S Ioan, Marieke Emonts, Emma Lim, John T. Isaacs, Kathryn Bell, Stephen Crulley, Daniel Fabián, Evelyn Thomson, Diane Wallia, Caroline Miller, Ashley Bell, Fabian van der Velden, Geoff Shenton, David Price, Owen Treloar, Daisy Thomas, Pablo Rojo, Cristina Epalza, Serena Villaverde, Sonia Márquez, Manuel Gijón, Fátima Machín, Laura Cabello, Irene Hernández, Lourdes Gutiérrez, Ángela Manzanares, Martijn van de Kuip, A. Marceline van Furth, J. Merlijn van den Berg, Giske Biesbroek, Floris Verkuil, Carlijn van der Zee, Dasja Pajkrt, Michaël Boele van Hensbroek, D. Schonenberg, Mariken Gruppen, Sietse Q. Nagelkerke, Machiel H. Jansen, Ines Goetschalckx, Lorenza Romani, Maia De Luca, Sara Chiurchiù, Costanza Tripiciano, Stefania Mercadante, Clementien L. Vermont, Henriëtte A. Moll, Dorine Borensztajn, Nienke N. Hagedoorn, Chantal Tan, Joany M. Zachariasse, W. Dik, Ching‐Fen Shen, Dace Zavadska, Sniedze Laivacuma, Aleksandra Rudzate, Diana Stoldere, Arta Barzdi, Elza Barzdi, Monta Madelāne, Dagne Grãvele, Dace Svilz, Romain Basmaci, Noémie Lachaume, Pauline Bories, RajaBen Tkhayat, Laura Chériaux, Juraté Davoust, Kim-Thanh Ong, Marie Cotillon, Thibault de Groc, Sébastien Lê, Nathalie Vergnault, Hélène See, Laure Cohen, Alice de Tugny, Névéna Danékova, Marine Mommert-Tripon, Karen Brengel‐Pesce, Marko Pokorn, Mojca Kolnik, Tadej Avčin, Tanja Avramoska, Natalija Bahovec, Petra Bogovič, Lidija Kitanovski, Mirijam Nahtigal, Lea Papst, Tina Plankar Srovin, Franc Strle, Katarina Vincek, Wim J. E. Tissing, Roelie M. Wösten‐van Asperen, Sebastiaan J. Vastert, Daniel C. Vijlbrief, Louis Bont, Coco R. Beudeker, Luregn J. Schlapbach, Christoph Aebi, Mariama Usman, Stefanie Schlüchter, Verena Wyss, Nina Schöbi, Elisa Zimmermann, Marion Meier, Kathrin Weber, Colin G. Fink, Marie Voice, Leo Calvo‐Bado, Michael Steele, Jennifer Holden, Andrew Taylor, Ronan Calvez, Catherine Davies, B. J. K. Evans, Jake Stevens, Peter Matthews, Kyle Billing, Alexander Binder, Daniela S. Kohlfürst, Nina A. Schweintzger, Christoph Zurl, Susanne Hösele, Manuel Leitner, Lena Pölz, Alexandra Rusu, Glorija Rajic, Bianca Stoiser, Martina Strempfl, Manfred G. Sagmeister, Sebastian Bauchinger, Martin Benesch, Astrid Ceolotto, Ernst Eber, Siegfried Gallistl, Harald Haidl, Almuthe Hauer, Christa Hude, Andreas Kapper, Markus Keldorfer, Sabine Löffler, Tobias Niedrist, Heidemarie Pilch, Andreas Pfleger, Klaus Pfurtscheller, Siegfried Rödl, Andrea Skrabl‐Baumgartner, Volker Strenger, Elmar Wallner, Maike K. Tauchert, Shunmay Yeung, Manuel Dewez, David Bath, Elizabeth Fitchett, Fiona V Cresswell, Effua Usuf, Kalifa Bojang, Anna Roca, Isatou Sarr, Momodou Saidykhan, Ebrahim Ndure, Ulrich von Both, Laura Kolberg, Patricia Schmied, Ioanna Mavridi, Irene Alba‐Alejandre, Nikolaus A. Haas, Esther M. Maier, Sabrina Juranek, Tobias Feuchtinger, Katharina Danhauser, Matthias Griese, Matthias Kappler, Eberhard Lurz, Sebastian Schroepf, Florian Hoffmann, Karl Reiter, Carola Schoen, Éric Giannoni, Martin Stocker, Klara M. Posfay‐Barbe, Ulrich Heininger, Anita Niederer-Loher, Christian R. Kahlert, Giancarlo Talucci, Christoph Berger, Thomas Riedel, Pedro Madrigal, Silvie Fexová, Michael Levin, Lachlan Coin, Bernardo Hourmat, Clive Hoggart, Amina Abdulla, Paul‐Michael Agapow, Maeve Bartlett, Hariklia Eleftherohorinou, David Inwald, Meg Mashbat, Simon Nadel, Rahmeen Rahman, Hannah Shailes, Clare Thakker, S Bokhandi, Sue Power, Heather Barham, Jenna Ridout, Sarah Thurston, Sanjay Patel, Jenni McCorkell, Patrick Davies, Lindsey Crate, Helen Navarra, Stephanie Carter, Raghu Ramaiah, Rekha Patel, Catherine Tuffrey, Andrew Gribbin, Sharon McCready, Katie Hardy, Fran Standing, Lauren O’Neill, Eugenia Abelake, Eniola Nsirim, Andrew J. Pollard, Louise Willis, Zoë Young, C. Royad, Sonia White, Peter‐Marc Fortune, Phil Hudnott, Ruth Barral‐Arca, Miriam Cebey‐López, Natalia García, Andrea Grela Beiroa, Antonio Justicia Grande, Alba‐Elena Martinez‐Santos, José María Martinón Sánchez, Beatriz Morillo-Gutiérrez, Belén Mosquera Pérez, Pablo Obando Pacheco, María del Sol Porto Silva, Ana Vega, Lucía Vilanova‐Trillo, Susana Beatriz Reyes, María Cruz León León, Álvaro Navarro Mingorance, Xavier Gabaldó Barrios, Eider Oñate Vergara, Ana Vivanco, Reyes Fernández, F. Giménez Sánchez, Miguel Forte, Jesús Ruíz-Contreras, Alba Palacios, Elisa Fernández-Cooke, Marisa Navarro, Cristina Álvarez Álvarez, María José Lozano, Eduardo Carreras, Sònia Brió Sanagustín, Olaf Neth, Maria del Carmen Martínez Padilla, Sara Guillén, Laura Fernández Silveira, David Moreno, Ronald de Groot, Navin P. Boeddha, Gertjan J. Driessen, Jan A. Hazelzet, Taco W. Kuijpers, Elisabeth A. M. Sanders, Diederik van de Beek, Arie van der Ende, Ria H.L.A. Philipsen, A. O. A. Adeel, Mijke A. Breukels, D. M. C. Brinkman, C. C. M. M. de Korte, Esther de Vries, Wouter J. de Waal, R. Dekkers, A. Dings-Lammertink, Rienus A. Doedens, Albertine E. Donker, M. Dousma, Tina E. Faber, G. P. J. M. Gerrits, J.A.M. Gerver, Jojanneke Heidema, J. Homan-van der Veen, Monique Jacobs, Nicolaas J. G. Jansen, P. Kawczynski, K. Klucovska, Martin C. J. Kneyber, Y. Koopman-Keemink, V. J. Langenhorst, J. Leusink, Bettina Loza, I. T. Merth, C.J. Miedema, C. Neeleman, Jeroen G. Noordzij, Charles C. Obihara, Ann Gils, G. H. Poortman, Stephanus T. Potgieter, J. Potjewijd, Tom Sprong, G. W. ten Tussher, Boony Thio, Gerdien A. Tramper‐Stranders, Marcel van Deuren, H. van der Meer, A. J. M. van Kuppevelt, Anne‐Marie van Wermeskerken, W. A. Verwijs, Tom F.W. Wolfs, Paul Hasters, Walter S. Baer, Hannah Frederick, Rebecca B. Jennings, Joanne Johnston, Rhian Kenwright, Elli Pinnock, Rachel Agbeko, Suzanne T. Anderson, Fatou Secka, Ngange Kebbeh, Gibbi Sey, Fatoumata Cole, Gilleh Thomas, Martín Antonio, Hinrich Baumgart, Markus R. Baumgartner, Uta Behrends, Ariane Biebl, Robert Birnbacher, Jan-Gerd Blanke, Carsten Boelke, Kai Breuling, Jürgen Brunner, Maria Buller, Peter Dahlem, Beate Dietrich, Johannes Elias, Josef Emhofer, Rosa Etschmaier, Sebastian Farr, Ylenia Girtler, Irina Grigorow, Konrad Heimann, Ulrike Ihm, Zdenek Jaros, Hermann Kalhoff, W Kaulfersch, Christoph Kemen, Nina Klocker, Bernhard Köster, Eleni Komini, Lydia Kramer, Antje Neubert, Daniel Ortner, Lydia Pescollderungg, Goran Ristić, Andrea Sellner, Astrid Sonnleitner, Matthias Sperl, Wolfgang Stelzl, Holger Till, Andreas Trobisch, Anne Vierzig, Ulrich Vogel, Christina Weingarten, Stefanie Welke, Andreas Wimmer, Uwe Wintergerst, Daniel Wüller, Andrew Zaunschirm, Ieva Ziuraite, Veslava Žukovskaja, Martin L. Hibberd, Sonia Dávila, Isabel Delany, Rebeca Pérez de Diego, Lindsey Edwards, Christopher Chiu, Mahdad Noursadeghi, Alexandre Bolze, Chisato Shimizu, Myrsini Kaforou, Melissa Shea Hamilton, Erica G. Schmitt, Agustí Rodríguez‐Palmero, Aurora Pujol, Jihoon Kim, Aurélie Cobat, Laurent Abel, Shen‐Ying Zhang, Jean‐Laurent Casanova, Jane C. Burns, Adrian Hayday
13Citations signalées — pas une note de qualité
82Institutions déclarées
19Pays d’affiliation déclarés
Résumé fourni par la source
Multisystem inflammatory syndrome in children (MIS-C) is a rare condition following SARS-CoV-2 infection associated with intestinal manifestations. Genetic predisposition, including inborn errors of the OAS-RNAseL pathway, has been reported. We sequenced 154 MIS-C patients and utilized a novel statistical framework of gene burden analysis, "burdenMC," which identified an enrichment for rare predicted-deleterious variants in BTNL8 (OR = 4.2, 95% CI: 3.5-5.3, P < 10-6). BTNL8 encodes an intestinal epithelial regulator of Vγ4+γδ T cells implicated in regulating gut homeostasis. Enrichment was exclusive to MIS-C, being absent in patients with COVID-19 or bacterial disease. Using an available functional test for BTNL8, rare variants from a larger cohort of MIS-C patients (n = 835) were tested which identified eight variants in 18 patients (2.2%) with impaired engagement of Vγ4+γδ T cells. Most of these variants were in the B30.2 domain of BTNL8 implicated in sensing epithelial cell status. These findings were associated with altered intestinal permeability, suggesting a possible link between disrupted gut homeostasis and MIS-C-associated enteropathy triggered by SARS-CoV-2.
Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.
Contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé, mais le titre doit être comparé manuellement.
- Titre Crossref
- Heterozygous
<i>BTNL8</i>
variants in individuals with multisystem inflammatory syndrome in children (MIS-C)
- Date Crossref
- 22/11/2024
- Éditeur
- Rockefeller University Press
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude et ne compte pas comme une seconde source scientifique indépendante.
Institutions déclarées
Une affiliation ne permet pas de déduire la nationalité d’un auteur.
Sujets associés
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