@article{01JJ4TKM34GGCFGH3TM3VTY6TT,
  abstract     = {{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 V gamma 4(+)gamma delta 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 V gamma 4(+)gamma delta 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.}},
  articleno    = {{e920240699}},
  author       = {{Bellos, Evangelos and Santillo, Dilys and Vantourout, Pierre and Jackson, Heather R. and Duret, Amedine and Hearn, Henry and Seeleuthner, Yoann and Talouarn, Estelle and Hodeib, Stephanie and Patel, Harsita and Powell, Oliver and Yeoh, Sophya and Mustafa, Sobia and Habgood-Coote, Dominic and Nichols, Samuel and Estramiana Elorrieta, Leire and D’Souza, Giselle and Wright, Victoria J. and Estrada-Rivadeneyra, Diego and Tremoulet, Adriana H. and Dummer, Kirsten B. and Netea, Stejara A. and Condino-Neto, Antonio and Lau, Yu Lung and Núñez Cuadros, Esmeralda and Toubiana, Julie and Holanda Pena, Marisol and Rieux-Laucat, Frédéric and Luyt, Charles-Edouard and Haerynck, Filomeen and Mège, Jean Louis and Chakravorty, Samya and Haddad, Elie and Morin, Marie-Paule and Metin Akcan, Özge and Keles, Sevgi and Emiroglu, Melike and Alkan, Gulsum and Tüter Öz, Sadiye Kübra and Elmas Bozdemir, Sefika and Morelle, Guillaume and Volokha, Alla and Kendir-Demirkol, Yasemin and Sözeri, Betul and Coskuner, Taner and Yahsi, Aysun and Gulhan, Belgin and Kanik-Yuksek, Saliha and Bayhan, Gulsum Iclal and Ozkaya-Parlakay, Aslinur and Yesilbas, Osman and Hatipoglu, Nevin and Ozcelik, Tayfun and Belot, Alexandre and Chopin, Emilie and Barlogis, Vincent and Sevketoglu, Esra and Menentoglu, Emin and Gayretli Aydin, Zeynep Gokce and Bloomfield, Marketa and AlKhater, Suzan A. and Cyrus, Cyril and Stepanovskiy, Yuriy and Bondarenko, Anastasiia and Öz, Fatma Nur and Polat, Meltem and Fremuth, Jiří and Lebl, Jan and Geraldo, Amyrath and Jouanguy, Emmanuelle and Aiuti, Alessandro and Alsina, Laia and Andreakos, Evangelos and de Andrés Martín, Ana and Biggs, Catherine M. and Borghesi, Alessandro and Bousfiha, Amed Aziz and Blazquez-Gamero, Daniel and Brodin, Petter and Casari, Giorgio and Condino-Neto, Antonio and Fellay, Jacques and Flores, Carlos and Gorochov, Guy and Erdeniz, Emine Hafize and Hammarström, Lennart and Garcia, Yolanda Jordan and Karbuz, Adem and Klocperk, Adam and Lapuente-Suanzes, Paloma and Lau, Yu-Lung and Leung, Cheng and Mansouri, Davood and Mogensen, Trine H. and Ng, Lisa F.P. and Novelli, Antonio and Novelli, Giuseppe and Okamoto, Keisuke and Okada, Satoshi and Pan-Hammarström, Qiang and Pesole, Graziano and Renia, Laurent and Rodriguez-Gallego, Carlos and Sediva, Anna and Shahrooei, Mohammad and Soler-Palacin, Pere and Spaan, András N. and Tanir, Gonul and Tayoun, Ahmad Abou and Temel, Şehime G. and Vinh, Donald C. and Cunnington, Aubrey and Herberg, Jethro and Kaforou, Myrsini and Wright, Victoria J. and Bellos, Evangelos and Broderick, Claire and Channon-Wells, Samuel and Cooray, Samantha and De, Tisham and D'Souza, Giselle and Elorrieta, Leire Estramia and Estrada-Rivadeneyra, Diego and Galassini, Rachel and Habgood-Coote, Dominic and Hamilton, Shea and Jackson, Heather and Kavangh, James and Keren, Ila and Marjaneh, Mahdi Moradi and Menikou, Stephanie and Nichols, Samuel and Nijman, Ruud and Pennisi, Ivana and Powell, Oliver and Reid, Ruth and Shah, Priyen and Vito, Ortensia and Whittaker, Elizabeth and Wilson, Clare and Womersley, Rebecca and Abdulla, Ami and Darnell, Sarah and Mustafa, Sobia and Georgiou, Pantelis and Manzano, Jesus-Rodriguez and Moser, Nicolas and Carter, Michael and Tibby, Shane and Cohen, Jonathan and Davis, Francesca and Kenny, Julia and Wellman, Paul and White, Marie and Fish, Matthew and Jennings, Aislinn and Shankar-Hari, Manu and Fidler, Katy and Agranoff, Dan and Richmond, Vivien and Seal, Mathhew and Faust, Saul and Owen, Dan and Ensom, Ruth and McKay, Sarah and Shaji, Mariya and Schranz, Rachel and Rughni, Prita and Anpanthar, Amutha and Liebeschuetz, Susan and Riddell, Anna and Divakaran, Divya and Han, Louise and Khalid, Nosheen and Malcolm, Ivone Lancoma and Schofield, Jessica and Simagan, Teresa and Peters, Mark and Bamford, Alasdair and O'Neill, Lauran and Pathan, Nazima and Daubney, Esther and White, Deborah and Heightman, Melissa and Eisen, Sarah and Segal, Terry and Wellings, Lucy and Drysdale, Simon B. and Branch, Nicole and Hamzah, Lisa and Jarman, Heather and Nyirenda, Maggie and Capozzi, Lisa and Gardiner, Emma and Moots, Robert and Nasher, Magda and Hanson, Anita and Linforth, Michelle and O'Riordan, Sean and Ellis, Don and Deep, Akash and Caro, Ivan and Shackley, Fiona and Bellini, Arianna and Gormley, Stuart and Neshat, Samira and Scholefield, Barnaby and Robbins, Ceri and Winmill, Helen and Paulus, Stéphane C. and Pollard, Andrew J. and Anthony, Mark and Hopton, Sarah and Miller, Danielle and Oliver, Zoe and Beer, Sally and Ward, Bryony and Shrestha, Shrija and Gurung, Meeru and Amatya, Puja and Pokhrel, Bhishma and Bijukchhe, Sanjeev Man and Gautam, Madhav Chandra and Kelly, Sarah and O'Reilly, Peter and Shrestha, Sonu and Martinón-Torres, Federico and Salas, Antonio and Álvez González, Fernando and Gómez, Sonia Ares and Bello, Xabier and García, Mirian Ben and Caamaño Viña, Fernando and Carnota, Sandra and Curras-Tuala, María José and Dacosta Urbieta, Ana and Suárez, Carlos Durán and Vidal, Isabel Ferreiros and Vicente, Luisa García and Gómez-Carballa, Alberto and Rial, Jose Gómez and Iglesias, Pilar Leboráns and Mallah, Narmeen and Martinón-Torres, Nazareth and Martinón, José María and Mosquera Pérez Sánchez, Belén and Pardo-Seco, Jacobo and Pischedda, Sara and Vázquez, Sara Rey and Calle, Irene Rivero and Rodríguez-Tenreiro, Carmen and Redondo-Collazo, Lorenzo and Fernández, Sonia Serén and Iglesias, Marisol Vilas and Carrol, Enitan D. and Cocklin, Elizabeth and Beckley, Rebecca and Bracken, Abbey and Evans, Ceri and Khanijau, Aakash and Lenihan, Rebecca and Lewis-Burke, Nadia and Newall, Karen and Romaine, Sam and Whitbread, Jennifer and Tsolia, Maria and Eleftheriou, Irini and Spyridis, Nikos and Tambouratzi, Maria and Maritsi, Despoina and Marmarinos, Antonios and Xagorari, Marietta and Panagiota, Lourida and Aggelos, Pefanis and Karoli, Akinosoglou and Charalambos, Gogos and Markos, Maragos and Michalis, Voulgarelis and Ioan, Stergiou and Emonts, Marieke and Lim, Emma and Isaacs, John and Bell, Kathryn and Crulley, Stephen and Fabian, Daniel and Thomson, Evelyn and Wallia, Diane and Miller, Caroline and Bell, Ashley and van der Velden, Fabian J.S. and Shenton, Geoff and Price, Ashley and Treloar, Owen and Thomas, Daisy and Rojo, Pablo and Epalza, Cristina and Villaverde, Serena and Márquez, Sonia and Gijón, Manuel and Machín, Fátima and Cabello, Laura and Hernández, Irene and Gutiérrez, Lourdes and Manzanares, Ángela and Kuijpers, Taco W. and van de Kuip, Martijn and van Furth, Marceline and van den Berg, Merlijn and Biesbroek, Giske and Verkuil, Floris and van der Zee, Carlijn and Pajkrt, Dasja and van Hensbroek, Michael Boele and Schonenberg, Dieneke and Gruppen, Mariken and Nagelkerke, Sietse and Jansen, Machiel H. and Goetschalckx, Ines and Romani, Lorenza and De Luca, Maia and Chiurchiù, Sara and Tripiciano, Costanza and Mercadante, Stefania and Vermont, Clementien L. and Moll, Henriëtte A. and Borensztajn, Dorine M. and Hagedoorn, Nienke N. and Tan, Chantal and Zachariasse, Joany and Dik, W. and Shen, Ching-Fen and Zavadska, Dace and Laivacuma, Sniedze and Rudzate, Aleksandra and Stoldere, Diana and Barzdi, Arta and Barzdi, Elza and Madelane, Monta and Gravele, Dagne and Svilz, Dace and Basmaci, Romain and Lachaume, Noémie and Bories, Pauline and Tkhayat, RajaBen and Chériaux, Laura and Davoust, Juraté and Ong, Kim-Thanh and Cotillon, Marie and de Groc, Thibault and Le, Sébastien and Vergnault, Nathalie and Sée, Hélène and Cohen, Laure and de Tugny, Alice and Danekova, Nevena and Mommert-Tripon, Marine and Brengel-Pesce, Karen and Pokorn, Marko and Kolnik, Mojca and Avčin, Tadej and Avramoska, Tanja and Bahovec, Natalija and Bogovič, Petra and Kitanovski, Lidija and Nahtigal, Mirijam and Papst, Lea and Plankar Srovin, Tina and Strle, Franc and Vincek, Katarina and van der Flier, Michiel and Tissing, Wim J.E. and Wösten-van Asperen, Roelie M. and Vastert, Sebastiaan J. and Vijlbrief, Daniel C. and Bont, Louis J. and Beudeker, Coco R. and Agyeman, Philipp and Schlapbach, Luregn and Aebi, Christoph and Usman, Mariama and Schlüchter, Stefanie and Wyss, Verena and Schöbi, Nina and Zimmermann, Elisa and Meier, Marion and Weber, Kathrin and Fink, Colin and Voice, Marie and Calvo-Bado, Leo and Steele, Michael and Holden, Jennifer and Taylor, Andrew and Calvez, Ronan and Davies, Catherine and Evans, Benjamin and Stevens, Jake and Matthews, Peter and Billing, Kyle and Zenz, Werner and Binder, Alexander and Kohlmaier, Benno and Kohlfürst, Daniela S. and Schweintzger, Nina A. and Zurl, Christoph and Hösele, Susanne and Leitner, Manuel and Pölz, Lena and Rusu, Alexandra and Rajic, Glorija and Stoiser, Bianca and Strempfl, Martina and Sagmeister, Manfred G. and Bauchinger, Sebastian and Benesch, Martin and Ceolotto, Astrid and Eber, Ernst and Gallistl, Siegfried and Haidl, Harald and Hauer, Almuthe and Hude, Christa and Kapper, Andreas and Keldorfer, Markus and Löffler, Sabine and Niedrist, Tobias and Pilch, Heidemarie and Pfleger, Andreas and Pfurtscheller, Klaus and Rödl, Siegfried and Skrabl-Baumgartner, Andrea and Strenger, Volker and Wallner, Elmar and Tauchert, Maike K. and Yeung, Shunmay and Dewez, Manuel and Bath, David and Fitchett, Elizabeth and Cresswell, Fiona and Usuf, Effua and Bojang, Kalifa and Roca, Anna and Sarr, Isatou and Saidykhan, Momodou and Ndure, Ebrahim and von Both, Ulrich and Kolberg, Laura and Schmied, Patricia and Mavridi, Ioanna and Alba-Alejandre, Irene and Haas, Nikolaus and Maier, Esther and Juranek, Sabrina and Feuchtinger, Tobias and Danhauser, Katharina and Griese, Matthias and Kappler, Matthias and Lurz, Eberhard and Schroepf, Sebastian and Hoffmann, Florian and Reiter, Karl and Schoen, Carola and Schlapbach, Luregn J. and Giannoni, Eric and Stocker, Martin and Posfay-Barbe, Klara M. and Heininger, Ulrich and Bernhard-Stirnemann, Sara and Niederer-Loher, Anita and Kahlert, Christian and Talucci, Giancarlo and Relly, Christa and Berger, Christoph and Riedel, Thomas and Madrigal, Pedro and Fexova, Silvie and Levin, Michael and Coin, Lachlan and Gormley, Stuart and Hamilton, Shea and Herberg, Jethro and Hourmat, Bernardo and Hoggart, Clive and Kaforou, Myrsini and Sancho-Shimizu, Vanessa and Wright, Victoria and Abdulla, Amina and Agapow, Paul and Bartlett, Maeve and Bellos, Evangelos and Eleftherohorinou, Hariklia and Galassini, Rachel and Inwald, David and Mashbat, Meg and Menikou, Stephanie and Mustafa, Sobia and Nadel, Simon and Rahman, Rahmeen and Shailes, Hannah and Thakker, Clare and Bokhandi, Sumit and Power, Sue and Barham, Heather and Pathan, Nazima and Ridout, Jenna and White, Deborah and Thurston, Sarah and Faust, Saul and Patel, Sanjay and McCorkell, Jenni and Davies, Patrick and Crate, Lindsey and Navarra, Helen and Carter, Stephanie and Ramaiah, Raghu and Patel, Rekha and Tuffrey, Catherine and Gribbin, Andrew and McCready, Sharon and Peters, Mark and Hardy, Katie and Standing, Fran and O'Neill, Lauren and Abelake, Eugenia and Deep, Akash and Nsirim, Eniola and Pollard, Andrew and Willis, Louise and Young, Zoe and Royad, Collin and White, Sonia and Fortune, Peter-Marc and Hudnott, Phil and Martinón-Torres, Federico and Salas, Antonio and González, Fernando Álvez and Barral-Arca, Ruth and Cebey-López, Miriam and Curras-Tuala, María José and García, Natalia and Vicente, Luisa García and Gómez-Carballa, Alberto and Rial, Jose Gómez and Beiroa, Andrea Grela and Grande, Antonio Justicia and Leboráns Iglesias, Pilar and Martínez Santos, Alba Elena and Martinón-Torres, Federico and Martinón-Torres, Nazareth and Martinón Sánchez, José María and Morillo Gutiérrez, Beatriz and Mosquera Pérez, Belén and Obando Pacheco, Pablo and Pardo-Seco, Jacobo and Pischedda, Sara and Rivero-Calle, Irene and Rodríguez-Tenreiro, Carmen and Redondo-Collazo, Lorenzo and Fernández, Sonia Serén and del Sol Porto Silva, María and Vega, Ana and Trillo, Lucía Vilanova and Reyes, Susana Beatriz and León, María Cruz León and Mingorance, Álvaro Navarro and Barrios, Xavier Gabaldó and Vergara, Eider Oñate and Torre, Andrés Concha and Vivanco, Ana and Fernández, Reyes and Sánchez, Francisco Giménez and Forte, Miguel Sánchez and Rojo, Pablo and Contreras, Jesus Ruiz and Palacios, Alba and Ibarrondo, Cristina Epalza and Cooke, Elizabeth Fernández and Navarro, Marisa and Álvarez, Cristina Álvarez and Lozano, María José and Carreras, Eduardo and Sanagustín, Sonia Brió and Neth, Olaf and del Carmen Martínez Padilla, Maria and Tato, Luis Manuel Prieto and Guillén, Sara and Silveira, Laura Fernández and Moreno, David and de Groot, Ronald and van Furth, A. Marceline Tutu and van der Flier, Michiel and Boeddha, Navin P. and Driessen, Gertjan J.A. and Hazelzet, Jan and Kuijpers, Taco W. and Pajkrt, Dasja and Sanders, Elisabeth A.M. and van de Beek, Diederik and van der Ende, Arie and Philipsen, Ria H.L.A. and Adeel, Abdul O.A. and Breukels, Mijke A. and Brinkman, Danielle M.C. and de Korte, Carla C.M.M. and de Vries, Esther and de Waal, Wouter J. and Dekkers, Roel and Dings-Lammertink, Anouk and Doedens, Rienus A. and Donker, Albertine E. and Dousma, Mieke and Faber, Tina E. and Gerrits, Gerardus P.J.M. and Gerver, Jan A.M. and Heidema, Jojanneke and Homan-van der Veen, Jenneke and Jacobs, Monique A.M. and Jansen, Nicolaas J.G. and Kawczynski, Pawel and Klucovska, Kristine and Kneyber, Martin C.J. and Koopman-Keemink, Yvonne and Langenhorst, Veerle J. and Leusink, José and Loza, Bettina F. and Merth, Istvan T. and Miedema, Carien J. and Neeleman, Chris and Noordzij, Jeroen G. and Obihara, Charles C. and van Overbeek - van Gils, A. Lindy T. and Poortman, Geriska H. and Potgieter, Stephanus T. and Potjewijd, Joke and Rosias, Phillippe P.R. and Sprong, Tom and ten Tussher, Gavin W. and Thio, Boony J. and Tramper-Stranders, Gerdien A. and van Deuren, Marcel and van der Meer, Henny and van Kuppevelt, Andre J.M. and van Wermeskerken, Anne-Marie and Verwijs, Wim A. and Wolfs, Tom F.W. and Schlapbach, Luregn J. and Agyeman, Philipp and Aebi, Christoph and Berger, Christoph and Giannoni, Eric and Stocker, Martin and Posfay-Barbe, Klara M. and Heininger, Ulrich and Bernhard-Stirnemann, Sara and Niederer-Loher, Anita and Kahlert, Christian and Hasters, Paul and Relly, Christa and Baer, Walter and Carrol, Enitan D. and Paulus, Stéphane and Frederick, Hannah and Jennings, Rebecca and Johnston, Joanne and Kenwright, Rhian and Fink, Colin G. and Pinnock, Elli and Emonts, Marieke and Agbeko, Rachel and Anderson, Suzanne and Secka, Fatou and Bojang, Kalifa and Sarr, Isatou and Kebbeh, Ngange and Sey, Gibbi and Saidykhan, Momodou and Cole, Fatoumata and Thomas, Gilleh and Antonio, Martin and Zenz, Werner and Kohlfürst, Daniela S. and Binder, Alexander and Schweintzger, Nina A. and Sagmeister, Manfred and Baumgart, Hinrich and Baumgartner, Markus and Behrends, Uta and Biebl, Ariane and Birnbacher, Robert and Blanke, Jan-Gerd and Boelke, Carsten and Breuling, Kai and Brunner, Jürgen and Buller, Maria and Dahlem, Peter and Dietrich, Beate and Eber, Ernst and Elias, Johannes and Emhofer, Josef and Etschmaier, Rosa and Farr, Sebastian and Girtler, Ylenia and Grigorow, Irina and Heimann, Konrad and Ihm, Ulrike and Jaros, Zdenek and Kalhoff, Hermann and Kaulfersch, Wilhelm and Kemen, Christoph and Klocker, Nina and Köster, Bernhard and Kohlmaier, Benno and Komini, Eleni and Kramer, Lydia and Neubert, Antje and Ortner, Daniel and Pescollderungg, Lydia and Pfurtscheller, Klaus and Reiter, Karl and Ristic, Goran and Rödl, Siegfried and Sellner, Andrea and Sonnleitner, Astrid and Sperl, Matthias and Stelzl, Wolfgang and Till, Holger and Trobisch, Andreas and Vierzig, Anne and Vogel, Ulrich and Weingarten, Christina and Welke, Stefanie and Wimmer, Andreas and Wintergerst, Uwe and Wüller, Daniel and Zaunschirm, Andrew and Ziuraite, Ieva and Žukovskaja, Veslava and Hibberd, Martin L. and Davila, Sonia and Delany, Isabel and Carter, Michael J. and Wellman, Paul and Peters, Mark and Pérez de Diego, Rebeca and Edwards, Lindsey Ann and Chiu, Christopher and Noursadeghi, Mahdad and Bolze, Alexandre and Shimizu, Chisato and Kaforou, Myrsini and Hamilton, Melissa Shea and Herberg, Jethro A. and Schmitt, Erica G. and Rodriguez-Palmero, Agusti and Pujol, Aurora and Kim, Jihoon and Cobat, Aurélie and Abel, Laurent and Zhang, Shen-Ying and Casanova, Jean-Laurent and Kuijpers, Taco W. and Burns, Jane C. and Levin, Michael and Hayday, Adrian C. and Sancho-Shimizu, Vanessa and COVID-19 Human Genetic Effort, [missing] and DIAMONDS, [missing] and EUCLIDS, [missing]}},
  issn         = {{0022-1007}},
  journal      = {{JOURNAL OF EXPERIMENTAL MEDICINE}},
  keywords     = {{B30.2 DOMAIN,T-CELLS,MOLECULES,IMMUNITY,PROJECT,PROTEIN}},
  language     = {{eng}},
  number       = {{12}},
  pages        = {{31}},
  title        = {{Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C)}},
  url          = {{http://doi.org/10.1084/jem.20240699}},
  volume       = {{221}},
  year         = {{2024}},
}

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