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1. Case report: Personalized triple phage-antibiotic combination therapy to rescue necrotizing fasciitis caused by Panton-Valentine leukocidin-producing MRSA in a 12-year-old boy

Author

Brieuc Van Nieuwenhuyse, Mathilde Balcaen, Olga Chatzis, Astrid Haenecour, Emilien Derycke, Thierry Detaille, Stéphan Clément de Cléty, Cécile Boulanger, Leïla Belkhir, Jean-Cyr Yombi, Julien De Greef, Olivier Cornu, Pierre-Louis Docquier, Audrey Lentini, Renaud Menten, Hector Rodriguez-Villalobos, Alexia Verroken, Sarah Djebara, Maya Merabishvili, Johann Griselain, Jean-Paul Pirnay, Laurent Houtekie, and Dimitri Van der Linden

Subjects
MRSA, Panton and Valentine leukocidin (PVL), bacteriophage, phage therapy, necrotizing fasciitis, pediatric intensive care unit, Microbiology, QR1-502
Abstract

Maximal standard-of-care (SOC) management could not stop the life-threatening progression of a necrotizing fasciitis induced by Panton-Valentine Leukocidin-producing Methicillin-Resistant Staphylococcus aureus (MRSA) in a 12-year-old boy. Multi-route phage therapy was initiated along with antibiotics against Staphylococcus aureus, Pseudomonas aeruginosa and Stenotrophomonas maltophilia, eventually leading to full recovery with no reported adverse events.

Published
2024
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2. Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection

Author

Astrid Marchal, Elizabeth T. Cirulli, Iva Neveux, Evangelos Bellos, Ryan S. Thwaites, Kelly M. Schiabor Barrett, Yu Zhang, Ivana Nemes-Bokun, Mariya Kalinova, Andrew Catchpole, Stuart G. Tangye, András N. Spaan, Justin B. Lack, Jade Ghosn, Charles Burdet, Guy Gorochov, Florence Tubach, Pierre Hausfater, Clifton L. Dalgard, Shen-Ying Zhang, Qian Zhang, Christopher Chiu, Jacques Fellay, Joseph J. Grzymski, Vanessa Sancho-Shimizu, Laurent Abel, Jean-Laurent Casanova, Aurélie Cobat, Alexandre Bolze, Alessandro Aiuti, Saleh Al-Muhsen, Fahd Al-Mulla, Ali Amara, Mark S. Anderson, Evangelos Andreakos, Andrés A. Arias, Lisa M. Arkin, Hagit Baris Feldman, Paul Bastard, Alexandre Belot, Catherine M. Biggs, Dusan Bogunovic, Anastasiia Bondarenko, Alessandro Borghesi, Ahmed A. Bousfiha, Petter Brodin, Yenan Bryceson, Manish J. Butte, Giorgio Casari, John Christodoulou, Roger Colobran, Antonio Condino-Neto, Stefan N. Constantinescu, Megan A. Cooper, Murkesh Desai, Beth A. Drolet, Xavier Duval, Jamila El Baghdadi, Philippine Eloy, Sara Espinosa-Padilla, Carlos Flores, José Luis Franco, Antoine Froidure, Peter K. Gregersen, Bodo Grimbacher, Filomeen Haerynck, David Hagin, Rabih Halwani, Lennart Hammarström, James R. Heath, Elena W.Y. Hsieh, Eystein Husebye, Kohsuke Imai, Yuval Itan, Emmanuelle Jouanguy, Elżbieta Kaja, Timokratis Karamitros, Kai Kisand, Cheng-Lung Ku, Yu-Lung Lau, Yun Ling, Carrie L. Lucas, Tom Maniatis, Davood Mansouri, László Maródi, France Mentré, Isabelle Meyts, Joshua D. Milner, Kristina Mironska, Trine H. Mogensen, Tomohiro Morio, Lisa F.P. Ng, Luigi D. Notarangelo, Antonio Novelli, Giuseppe Novelli, Cliona O'Farrelly, Satoshi Okada, Keisuke Okamoto, Tayfun Ozcelik, Qiang Pan-Hammarström, Jean W. Pape, Rebeca Perez de Diego, Jordi Perez-Tur, David S. Perlin, Graziano Pesole, Anna M. Planas, Carolina Prando, Aurora Pujol, Anne Puel, Lluis Quintana-Murci, Sathishkumar Ramaswamy, Laurent Renia, Igor Resnick, Carlos Rodríguez-Gallego, Anna Sediva, Mikko R.J. Seppänen, Mohammad Shahrooei, Anna Shcherbina, Ondrej Slaby, Andrew L. Snow, Pere Soler-Palacín, Vassili Soumelis, Ivan Tancevski, Ahmad Abou Tayoun, Şehime Gülsün Temel, Christian Thorball, Pierre Tiberghien, Sophie Trouillet-Assant, Stuart E. Turvey, K. M. Furkan Uddin, Mohammed J. Uddin, Diederik van de Beek, Donald C. Vinh, Horst von Bernuth, Joost Wauters, Mayana Zatz, Pawel Zawadzki, Serge Bureau, Yannick Vacher, Anne Gysembergh-Houal, Lauren Demerville, Abla Benleulmi-Chaachoua, Sebastien Abad, Radhiya Abassi, Abdelrafie Abdellaoui, Abdelkrim Abdelmalek, Hendy Abdoul, Helene Abergel, Fariza Abeud, Sophie Abgrall, Noemie Abisror, Marylise Adechian, Nordine Aderdour, Hakeem Farid Admane, Frederic Adnet, Sara Afritt, Helene Agostini, Claire Aguilar, Sophie Agut, Tommaso Francesco Aiello, Marc Ait Kaci, Hafid Ait Oufella, Gokula Ajeenthiravasan, Virginie Alauzy, Fanny Alby-Laurent, Lucie Allard, Marie-Alexandra Alyanakian, Blanca Amador Borrero, Sabrina Amam, Lucile Amrouche, Marc Andronikof, Dany Anglicheau, Nadia Anguel, Djillali Annane, Mohammed Aounzou, Caroline Aparicio, Gladys Aratus, Jean-Benoit Arlet, Jeremy Arzoine, Elisabeth Aslangul, Mona Assefi, Adeline Aubry, Laetitia Audiffred, Etienne Audureau, Christelle Nathalie Auger, Jean-Charles Auregan, Celine Awotar, Sonia Ayllon Milla, Delphine Azan, Laurene Azemar, Billal Azzouguen, Marwa Bachir Elrufaai, Aïda Badsi, Prissile Bakouboula, Coline Balcerowiak, Fanta Balde, Elodie Baldivia, Eliane-Flore Bangamingo, Amandine Baptiste, Fanny Baran-Marszak, Caroline Barau, Nathalie Barget, Flore Baronnet, Romain Barthelemy, Jean-Luc Baudel, Camille Baudry, Elodie Baudry, Laurent Beaugerie, Adel Belamri, Nicolas Belaube, Rhida Belilita, Pierre Bellassen, Rawan Belmokhtar, Isabel Beltran, Ruben Benainous, Mourad Benallaoua, Robert Benamouzig, Amélie Benbara, Jaouad Benhida, Anis Benkhelouf, Jihene Benlagha, Chahinez Benmostafa, Skander Benothmane, Miassa Bentifraouine, Laurence Berard, Quentin Bernier, Enora Berti, Astrid Bertier, Laure Berton, Simon Bessis, Alexandra Beurton, Celine Bianco, Clara Bianquis, Frank Bidar, Philippe Blanche, Clarisse Blayau, Alexandre Bleibtreu, Emmanuelle Blin, Coralie Bloch-Queyrat, Marie-Christophe Boissier, Diane Bollens, Marion Bolzoni, Rudy pierre Bompard, Nicolas Bonnet, Justine Bonnouvrier, Shirmonecrystal Botha, Wissam Boucenna, Fatiha Bouchama, Olivier Bouchaud, Hanane Bouchghoul, Taoueslylia Boudjebla, Noel Boudjema, Catherine Bouffard, Adrien Bougle, Meriem Bouguerra, Leila Bouras, Agnes Bourcier, Anne Bourgarit Durand, Anne Bourrier, Fabrice Bouscarat, Diane Bouvry, Nesrine Bouziri, Ons Bouzrara, Sarah Bribier, Delphine Brugier, Melanie Brunel, Eida Bui, Anne Buisson, Iryna Bukreyeva, Côme Bureau, Jacques Cadranel, Johann Cailhol, Ruxandra Calin, Clara Campos Vega, Pauline Canavaggio, Marta Cancella, Delphine Cantin, Albert Cao, Lionel Carbillon, Nicolas Carlier, Clementine Cassard, Guylaine Castor, Marion Cauchy, Olivier Cha, Benjamin Chaigne, Salima Challal, Karine Champion, Patrick Chariot, Julie Chas, Simon Chauveau, Anthony Chauvin, Clement Chauvin, Nathalie Chavarot, Kamélia Chebbout, Mustapha Cherai, Ilaria Cherubini, Amelie Chevalier, Thibault Chiarabini, Thierry Chinet, Richard Chocron, Pascaline Choinier, Juliette Chommeloux, Christophe Choquet, Laure Choupeaux, Benjamin Chousterman, Dragosmarius Ciocan, Ada Clarke, Gaëlle Clavere, Florian Clavier, Karine Clement, Sebastien Clerc, Yves Cohen, Fleur Cohen, Adrien Cohen, Audrey Coilly, Hester Colboc, Pauline Colin, Magalie Collet, Chloé Comarmond, Emeline Combacon, Alain Combes, Celine Comparon, Jean-Michel Constantin, Hugues Cordel, Anne-Gael Cordier, Adrien Costantini, Nathalie Costedoat Chalumeau, Camille Couffignal, Doriane Coupeau, Alain Creange, Yannie Cuvillier Lamarre, Charlène Da Silveira, Sandrine Dautheville Guibal El Kayani, Nathalie De Castro, Yann De Rycke, Lucie Del Pozo, Quentin Delannoy, Mathieu Delay, Robin Deleris, Juliette Delforge, Laëtitia Delphine, Noemie Demare, Sophie Demeret, Alexandre Demoule, Aurore Deniau, François Depret, Sophie Derolez, Ouda Derradji, Nawal Derridj, Vincent Descamps, Lydia Deschamps, Celine Desconclois, Cyrielle Desnos, Karine Desongins, Robin Dhote, Benjamin Diallo, Morgane Didier, Myriam Diemer, Stephane Diez, Juliette Djadi-Prat, Fatima-Zohra Djamouri Monnory, Siham Djebara, Naoual Djebra, Minette Djietcheu, Hadjer Djillali, Nouara Djouadi, Severine Donneger, Catarina Dos Santos, Nathalie Dournon, Martin Dres, Laura Droctove, Marie Drogrey, Margot Dropy, Elodie Drouet, Valérie Dubosq, Evelyne Dubreucq, Estelle Dubus, Boris Duchemann, Thibault Duchenoy, Emmanuel Dudoignon, Romain Dufau, Florence Dumas, Clara Duran, Emmanuelle Duron, Antoine Durrbach, Claudine Duvivier, Nathan Ebstein, Jihane El Khalifa, Alexandre Elabbadi, Caroline Elie, Gabriel Ernotte, Anne Esling, Martin Etienne, Xavier Eyer, Muriel Sarah Fartoukh, Takoua Fayali, Marion Fermaut, Arianna Fiorentino, Souha Fliss, Marie-Céline Fournier, Benjamin Fournier, Hélène Francois, Olivia Freynet, Yvann Frigout, Isaure Fromont, Axelle Fuentes, Thomas Furet, Joris Galand, Marc Garnier, Agnes Gaubert, Stéphane Gaudry, Samuel Gaugain, Damien Gauthier, Maxime Gautier, Sophie Georgin-Lavialle, Daniela Geromin, Mohamed Ghalayini, Bijan Ghaleh, Myriam Ghezal, Aude Gibelin, Linda Gimeno, Benoit Girard, Bénédicte Giroux Leprieur, Doryan Gomes, Elisabete Gomes-Pires, Anne Gouge, Amel Gouja, Helene Goulet, Sylvain Goupil, Jeanne Goupil De Bouille, Julien Gras, Segolene Greffe, Lamiae Grimaldi, Paul Guedeney, Bertrand Guidet, Matthias Guillo, Mariechristelle Gulczynski, Tassadit Hadjam, Didier Haguenauer, Soumeya Hammal, Nadjib Hammoudi, Olivier Hanon, Anarole Harrois, Coraline Hautem, Guillaume Hekimian, Nicholas Heming, Olivier Hermine, Sylvie Ho, Marie Houllier, Benjamin Huot, Tessa Huscenot, Wafa Ibn Saied, Ghilas Ikherbane, Meriem Imarazene, Patrick Ingiliz, Lina Iratni, Stephane Jaureguiberry, Jean-Francois Jean-Marc, Deleena Jeyarajasingham, Pauline Jouany, Veronique Jouis, Clement Jourdaine, Ouifiya Kafif, Rim Kallala, Sandrine Katsahian, Lilit Kelesyan, Vixra Keo, Flora Ketz, Warda Khamis, Enfel Khelili, Mehdi Khellaf, Christy Gaëlla Kotokpo Youkou, Ilias Kounis, Gaelle Kpalma, Jessica Krause, Vincent Labbe, Karine Lacombe, Jean-Marc Lacorte, Anne Gaelle Lafont, Emmanuel Lafont, Lynda Lagha, Lionel Lamhaut, Aymeric Lancelot, Cecilia Landman, Fanny Lanternier, Cecile Larcheveque, Caroline Lascoux Combe, Ludovic Lassel, Benjamin Laverdant, Christophe Lavergne, Jean-Rémi Lavillegrand, Pompilia Lazureanu, Loïc Le Guennec, Lamia Leberre, Claire Leblanc, Marion Leboyer, Francois Lecomte, Marine Lecorre, Romain Leenhardt, Marylou Lefebvre, Bénédicte Lefebvre, Paul Legendre, Anne Leger, Laurence Legros, Justyna Legrosse, Sébastien Lehuunghia, Julien Lemarec, Jeremie Leporrier-Ext, Manon Lesein, Hubert Lesur, Vincent Levy, Albert Levy, Edwige Lopes, Amanda Lopes, Vanessa Lopez, Julien Lopinto, Olivier Lortholary, Badr Louadah, Bénédicte Loze, Marie-Laure Lucas, Axelle Lucasamichi, Liem Binh Luong, Arouna Magazimama-Ext, David Maingret, Lakhdar Mameri, Philippe Manivet, Cylia Mansouri, Estelle Marcault, Jonathan Marey, Nathalie Marin, Clémence Marois, Olivier Martin, Lou Martineau, Cannelle Martinez-Lopez, Pierre Martyniuck, Pauline Mary De Farcy, Nessrine Marzouk, Rafik Masmoudi, Alexandre Mebazaa, Frédéric Mechai, Fabio Mecozzi, Chamseddine Mediouni, Bruno Megarbane, Mohamed Meghadecha, Élodie Mejean, Arsene Mekinian, Nour Mekki Abdelhadi, Rania Mekni, Thinhinan Sabrina Meliti, Breno Melo Lima, Paris Meng, Soraya Merbah, Fadhila Messani, Yasmine Messaoudi, Baboo-Irwinsingh Mewasing, Lydia Meziane, Carole Michelot-Burger, Françoise Mignot, Fadi Hillary Minka, Makoto Miyara, Pierre Moine, Jean-Michel Molina, Anaïs Montegnies-Boulet, Alexandra Monti, Claire Montlahuc, Anne-Lise Montout, Alexandre Moores, Caroline Morbieu, Helene Mortelette, Stéphane Mouly, Rosita Muzaffar, Cherifa Iness Nacerddine, Marine Nadal, Hajer Nadif, Kladoum Nassarmadji, Pierre Natella, Sandrine Ndingamondze, Stefan Neraal, Caroline Nguyen, Bao N'Guyen, Isabelle Nion Larmurier, Luc Nlomenyengue, Nicolas Noel, Hilario Nunes, Edris Omar, Zineb Ouazene, Elise Ouedraogo, Wassila Ouelaa, Anissa Oukhedouma, Yasmina Ould Amara, Herve Oya, Johanna Oziel, Thomas Padilla, Elena Paillaud, Solenne Paiva, Beatrice Parfait, Perrine Parize, Christophe Parizot, Antoine Parrot, Arthur Pavot, Laetitia Peaudecerf, Frédéric Pene, Marion Pepin, Julie Pernet, Claire Pernin, Mylène Petit, Olivier Peyrony, Marie-Pierre Pietri, Olivia Pietri, Marc Pineton De Chambrun, Michelle Pinson, Claire Pintado, Valentine Piquard, Christine Pires, Benjamin Planquette, Sandrine Poirier, Anne-Laure Pomel, Stéphanie Pons, Diane Ponscarme, Annegaelle Pourcelot, Valérie Pourcher, Anne Pouvaret, Florian Prever, Miresta Previlon, Margot Prevost, Marie-Julie Provoost, Cyril Quemeneur, Cédric Rafat, Agathe Rami, Brigitte Ranque, Maurice Raphael, Jean Herle Raphalen, Anna Rastoin, Mathieu Raux, Amani Rebai, Michael Reby, Alexis Regent, Asma Regrag, Matthieu Resche-Rigon, Quentin Ressaire, Christian Richard, Mariecaroline Richard, Maxence Robert, Benjamin Rohaut, Camille Rolland-Debord, Jacques Ropers, Anne-Marie Roque-Afonso, Charlotte Rosso, Mélanie Rousseaux, Nabila Rousseaux, Swasti Roux, Lorène Roux, Claire Rouzaud, Antoine Rozes, Emma Rubenstein, Jean-Marc Sabate, Sheila Sabet, Sophie-Caroline Sacleux, Nathalie Saidenberg Kermanach, Faouzi Saliba, Dominique Salmon, Laurent Savale, Guillaume Savary, Rebecca Sberro, Anne Scemla, Frederic Schlemmer, Mathieu Schwartz, Saïd Sedfi, Samia Sefir-Kribel, Philippe Seksik, Pierre Sellier, Agathe Selves, Nicole Sembach, Luca Semerano, Marie-Victoire Senat, Damien Sene, Alexandra Serris, Lucile Sese, Naima Sghiouar, Johanna Sigaux, Martin Siguier, Johanne Silvain, Noémie Simon, Tabassome Simon, Lina Innes Skandri, Miassa Slimani, Aurélie Snauwaert, Harry Sokol, Heithem Soliman, Nisrine Soltani, Benjamin Soyer, Gabriel Steg, Lydia Suarez, Tali-Anne Szwebel, Kossi Taffame, Yacine Tandjaoui-Lambiotte, Claire Tantet, Mariagrazia Tateo, Igor Theodose, Pierre clement Thiebaud, Caroline Thomas, Kelly Tiercelet, Julie Tisserand, Carole Tomczak, Krystel Torelino, Fatima Touam-Ext, Lilia Toumi, Gustave Toury, Mireille Toy-Miou, Olivia Tran Dinh Thanh Lien, Alexy Trandinh, Jean-Marc Treluyer, Baptiste Trinque, Jennifer Truchot, Sarah Tubiana, Simone Tunesi, Matthieu Turpin, Agathe Turpin, Tomas Urbina, Rafael Usubillaga Narvaez, Yurdagul Uzunhan, Prabakar Vaittinadaayar, Arnaud Valent, Maelle Valentian, Nadia Valin, Hélène Vallet, Marina Vaz, Miguel-Alejandro Vazquezibarra, Benoit Vedie, Laetitia Velly, Celine Verstuyft, Cedric Viallette, Eric Vicaut, Dorothee Vignes, Damien Vimpere, Myriam Virlouvet, Guillaume Voiriot, Lena Voisot, Emmanuel Weiss, Nicolas Weiss, Anaïs Winchenne, Youri Yordanov, Lara Zafrani, Mohamad Zaidan, Wissem Zaidi, Cathia Zak, Aida Zarhrate-Ghoul, Ouassila Zatout, Suzanne Zeino, Michel Zeitouni, Naïma Zemirli, Lorene Zerah, Ounsa Zia, Marianne Ziol, Oceane Zolario, Julien Zuber, Claire Andrejak, François Angoulvant, Delphine Bachelet, Marie Bartoli, Romain Basmaci, Sylvie Behillil, Marine Beluze, Dehbia Benkerrou, Krishna Bhavsar, Lila Bouadma, Sabelline Bouchez, Maude Bouscambert, Minerva Cervantes-Gonzalez, Anissa Chair, Catherine Chirouze, Alexandra Coelho, Sandrine Couffin-Cadiergues, Eric d’Ortenzio, Marie-Pierre Debray, Laurene Deconinck, Dominique Deplanque, Diane Descamps, Mathilde Desvallée, Alpha Diallo, Alphonsine Diouf, Céline Dorival, François Dubos, Brigitte Elharrar, Vincent Enouf, Hélène Esperou, Marina Esposito-Farese, Manuel Etienne, Eglantine Ferrand Devouge, Nathalie Gault, Alexandre Gaymard, Tristan Gigante, Morgane Gilg, Jérémie Guedj, Alexandre Hoctin, Isabelle Hoffmann, Ikram Houas, Jean-Sébastien Hulot, Salma Jaafoura, Florentia Kaguelidou, Sabrina Kali, Antoine Khalil, Coralie Khan, Cédric Laouénan, Samira Laribi, Minh Le, Quentin Le Hingrat, Soizic Le Mestre, Hervé Le Nagard, François-Xavier Lescure, Sophie Letrou, Yves Levy, Bruno Lina, Guillaume Lingas, Jean-Christophe Lucet, Denis Malvy, Marina Mambert, Amina Meziane, Hugo Mouquet, Jimmy Mullaert, Nadège Neant, Duc Nguyen, Marion Noret, Saad Nseir, Aurélie Papadopoulos, Christelle Paul, Nathan Peiffer-Smadja, Thomas Perpoint, Ventzislava Petrov-Sanchez, Gilles Peytavin, Huong Pham, Olivier Picone, Oriane Puéchal, Christian Rabaud, Manuel Rosa-Calatrava, Bénédicte Rossignol, Patrick Rossignol, Carine Roy, Marion Schneider, Richa Su, Coralie Tardivon, Marie-Capucine Tellier, François Téoulé, Olivier Terrier, Jean-François Timsit, Christelle Tual, Sylvie Van Der Werf, Noémie Vanel, Aurélie Veislinger, Benoit Visseaux, Aurélie Wiedemann, Yazdan Yazdanpanah, Loubna Alavoine, Charlotte Charpentier, Aline Dechanet, Jean-Luc Ecobichon, Wahiba Frezouls, Nadhira Houhou, Jonathan Lehacaut, Pauline Manchon, Mariama Nouroudine, Caroline Quintin, Michael Thy, Sylvie van der Werf, Valérie Vignali, Abir Chahine, Nawal Waucquier, Maria-Claire Migaud, Félix Djossou, Mayka Mergeay-Fabre, Aude Lucarelli, Magalie Demar, Léa Bruneau, Patrick Gérardin, Adrien Maillot, Christine Payet, Bruno Laviolle, Fabrice Laine, Christophe Paris, Mireille Desille-Dugast, Julie Fouchard, Thierry Pistone, Pauline Perreau, Valérie Gissot, Carole L.E. Goas, Samatha Montagne, Lucie Richard, Kévin Bouiller, Maxime Desmarets, Alexandre Meunier, Marilou Bourgeon, Benjamin Lefévre, Hélène Jeulin, Karine Legrand, Sandra Lomazzi, Bernard Tardy, Amandine Gagneux-Brunon, Frédérique Bertholon, Elisabeth Botelho-Nevers, Christelle Kouakam, Leturque Nicolas, Layidé Roufai, Karine Amat, Hélène Espérou, Samia Hendou, Giuseppe Foti, Giuseppe Citerio, Ernesto Contro, Alberto Pesci, Maria Grazia Valsecchi, Marina Cazzaniga, Giacomo Bellani, Jorge Abad, Giulia Accordino, Micol Angelini, Sergio Aguilera-Albesa, Aina Aguiló-Cucurull, Esra Akyüz Özkan, Ilad Alavi Darazam, Jonathan Antonio Roblero Albisures, Juan C. Aldave, Miquel Alfonso Ramos, Taj Ali Khan, Anna Aliberti, Seyed Alireza Nadji, Gulsum Alkan, Suzan A. AlKhater, Jerome Allardet-Servent, Luis M. Allende, Rebeca Alonso-Arias, Mohammed S. Alshahrani, Laia Alsina, Zahir Amoura, Arnau Antolí, Romain Arrestier, Mélodie Aubart, Teresa Auguet, Iryna Avramenko, Gökhan Aytekin, Axelle Azot, Seiamak Bahram, Fanny Bajolle, Fausto Baldanti, Aurélie Baldolli, Maite Ballester, Benoit Barrou, Federica Barzaghi, Sabrina Basso, Gulsum Iclal Bayhan, Liliana Bezrodnik, Agurtzane Bilbao, Geraldine Blanchard-Rohner, Ignacio Blanco, Adeline Blandinières, Daniel Blázquez-Gamero, Marketa Bloomfield, Mireia Bolivar-Prados, Raphael Borie, Elisabeth Botdhlo-Nevers, Aurore Bousquet, David Boutolleau, Claire Bouvattier, Oksana Boyarchuk, Juliette Bravais, M. Luisa Briones, Marie-Eve Brunner, Raffaele Bruno, Maria Rita P. Bueno, Huda Bukhari, Jacinta Bustamante, Juan José Cáceres Agra, Ruggero Capra, Raphael Carapito, Maria Carrabba, Carlos Casasnovas, Marion Caseris, Irene Cassaniti, Martin Castelle, Francesco Castelli, Martín Castillo de Vera, Mateus V. Castro, Emilie Catherinot, Jale Bengi Celik, Alessandro Ceschi, Martin Chalumeau, Bruno Charbit, Cécile Boulanger, Père Clavé, Bonaventura Clotet, Anna Codina, Cloé Comarmond, Patrizia Comoli, Angelo G. Corsico, Taner Coşkuner, Aleksandar Cvetkovski, Cyril Cyrus, David Dalmau, François Danion, David Ross Darley, Vincent Das, Nicolas Dauby, Stéphane Dauger, Paul De Munte, Loic de Pontual, Amin Dehban, Geoffroy Delplancq, Isabelle Desguerre, Antonio Di Sabatino, Jean-Luc Diehl, Stephanie Dobbelaere, Elena Domínguez-Garrido, Clément Dubost, Olov Ekwall, Şefika Elmas Bozdemir, Marwa H. Elnagdy, Melike Emiroglu, Akifumi Endo, Emine Hafize Erdeniz, Selma Erol Aytekin, Maria Pilar Etxart Lasa, Romain Euvrard, Giovanna Fabio, Laurence Faivre, Antonin Falck, Muriel Fartoukh, Morgane Faure, Miguel Fernandez Arquero, Ricard Ferrer, Jose Ferreres, Bruno Francois, Victoria Fumadó, Kitty S.C. Fung, Francesca Fusco, Alenka Gagro, Blanca Garcia Solis, Pierre Garçon, Pascale Gaussem, Zeynep Gayretli, Juana Gil-Herrera, Laurent Gilardin, Audrey Giraud Gatineau, Mònica Girona-Alarcón, Karen Alejandra Cifuentes Godínez, Jean-Christophe Goffard, Nacho Gonzales, Luis I. Gonzalez-Granado, Rafaela González-Montelongo, Antoine Guerder, Belgin Gülhan, Victor Daniel Gumucio, Leif Gunnar Hanitsch, Jan Gunst, Marta Gut, Jérôme Hadjadj, Selda Hancerli, Tetyana Hariyan, Nevin Hatipoglu, Deniz Heppekcan, Elisa Hernandez-Brito, Po-ki Ho, María Soledad Holanda-Peña, Juan P. Horcajada, Sami Hraiech, Linda Humbert, Ivan F.N. Hung, Alejandro D. Iglesias, Antonio Íñigo-Campos, Matthieu Jamme, María Jesús Arranz, Marie-Thérèse Jimeno, Iolanda Jordan, Saliha Kanık-Yüksek, Yalcin Kara, Aydın Karahan, Adem Karbuz, Kadriye Kart Yasar, Ozgur Kasapcopur, Kenichi Kashimada, Sevgi Keles, Yasemin Kendir Demirkol, Yasutoshi Kido, Can Kizil, Ahmet Osman Kılıç, Adam Klocperk, Antonia Koutsoukou, Zbigniew J. Król, Hatem Ksouri, Paul Kuentz, Arthur M.C. Kwan, Yat Wah M. Kwan, Janette S.Y. Kwok, Jean-Christophe Lagier, David S.Y. Lam, Vicky Lampropoulou, Fleur Le Bourgeois, Yee-Sin Leo, Rafael Leon Lopez, Daniel Leung, Michael Levin, Michael Levy, Romain Lévy, Zhi Li, Daniele Lilleri, Edson Jose Adrian Bolanos Lima, Agnes Linglart, Eduardo López-Collazo, José M. Lorenzo-Salazar, Céline Louapre, Catherine Lubetzki, Kwok-Cheung Lung, Charles-Edouard Luyt, David C. Lye, Cinthia Magnone, Enrico Marchioni, Carola Marioli, Majid Marjani, Laura Marques, Jesus Marquez Pereira, Andrea Martín-Nalda, David Martínez Pueyo, Javier Martinez-Picado, Iciar Marzana, Carmen Mata-Martínez, Alexis Mathian, Larissa R.B. Matos, Gail V. Matthews, Julien Mayaux, Raquel McLaughlin-Garcia, Philippe Meersseman, Jean-Louis Mège, Armand Mekontso-Dessap, Isabelle Melki, Federica Meloni, Jean-François Meritet, Paolo Merlani, Özge Metin Akcan, Mehdi Mezidi, Isabelle Migeotte, Maude Millereux, Matthieu Million, Tristan Mirault, Clotilde Mircher, Mehdi Mirsaeidi, Yoko Mizoguchi, Bhavi P. Modi, Francesco Mojoli, Elsa Moncomble, Abián Montesdeoca Melián, Antonio Morales Martinez, Francisco Morandeira, Pierre-Emmanuel Morange, Clémence Mordacq, Guillaume Morelle, Stéphane J. Mouly, Adrián Muñoz-Barrera, Cyril Nafati, Shintaro Nagashima, Yu Nakagama, Bénédicte Neven, João Farela Neves, Yuk-Yung Ng, Hubert Nielly, Yeray Novoa Medina, Esmeralda Nuñez Cuadros, Semsi Nur Karabela, J. Gonzalo Ocejo-Vinyals, Mehdi Oualha, Amani Ouedrani, Tayfun Özçelik, Aslinur Ozkaya-Parlakay, Michele Pagani, Maria Papadaki, Philippe Parola, Tiffany Pascreau, Stéphane Paul, Estela Paz-Artal, Sigifredo Pedraza, Nancy Carolina González Pellecer, Silvia Pellegrini, Rebeca Pérez de Diego, Xosé Luis Pérez-Fernández, Aurélien Philippe, Quentin Philippot, Adrien Picod, Marc Pineton de Chambrun, Antonio Piralla, Laura Planas-Serra, Dominique Ploin, Julien Poissy, Géraldine Poncelet, Garyphallia Poulakou, Marie S. Pouletty, Persia Pourshahnazari, Jia Li Qiu-Chen, Paul Quentric, Thomas Rambaud, Didier Raoult, Violette Raoult, Anne-Sophie Rebillat, Claire Redin, Léa Resmini, Pilar Ricart, Jean-Christophe Richard, Raúl Rigo-Bonnin, Nadia Rivet, Jacques G. Rivière, Gemma Rocamora-Blanch, Mathieu P. Rodero, Carlos Rodrigo, Luis Antonio Rodriguez, Carlos Rodriguez-Gallego, Agustí Rodriguez-Palmero, Carolina Soledad Romero, Anya Rothenbuhler, Damien Roux, Nikoletta Rovina, Flore Rozenberg, Yvon Ruch, Montse Ruiz, Maria Yolanda Ruiz del Prado, Juan Carlos Ruiz-Rodriguez, Joan Sabater-Riera, Kai Saks, Maria Salagianni, Oliver Sanchez, Adrián Sánchez-Montalvá, Silvia Sánchez-Ramón, Laire Schidlowski, Agatha Schluter, Julien Schmidt, Matthieu Schmidt, Catharina Schuetz, Cyril E. Schweitzer, Francesco Scolari, Luis Seijo, Analia Gisela Seminario, Piseth Seng, Sevtap Senoglu, Mikko Seppänen, Alex Serra Llovich, Virginie Siguret, Eleni Siouti, David M. Smadja, Nikaia Smith, Ali Sobh, Xavier Solanich, Jordi Solé-Violán, Catherine Soler, Betül Sözeri, Giulia Maria Stella, Yuriy Stepanovskiy, Annabelle Stoclin, Fabio Taccone, Jean-Luc Taupin, Simon J. Tavernier, Loreto Vidaur Tello, Benjamin Terrier, Guillaume Thiery, Karolina Thorn, Caroline Thumerelle, Imran Tipu, Martin Tolstrup, Gabriele Tomasoni, Julie Toubiana, Josep Trenado Alvarez, Vasiliki Triantafyllia, Jesús Troya, Owen T.Y. Tsang, Liina Tserel, Eugene Y.K. Tso, Alessandra Tucci, Şadiye Kübra Tüter Öz, Matilde Valeria Ursini, Takanori Utsumi, Pierre Vabres, Juan Valencia-Ramos, Ana Maria Van Den Rym, Isabelle Vandernoot, Valentina Velez-Santamaria, Silvia Patricia Zuniga Veliz, Mateus C. Vidigal, Sébastien Viel, Cédric Villain, Marie E. Vilaire-Meunier, Judit Villar-García, Audrey Vincent, Dimitri Van der Linden, Alla Volokha, Fanny Vuotto, Els Wauters, Alan K.L. Wu, Tak-Chiu Wu, Aysun Yahşi, Osman Yesilbas, Mehmet Yildiz, Barnaby E. Young, Ufuk Yükselmiş, Marco Zecca, Valentina Zuccaro, Jens Van Praet, Bart N. Lambrecht, Eva Van Braeckel, Cédric Bosteels, Levi Hoste, Eric Hoste, Fré Bauters, Jozefien De Clercq, Catherine Heijmans, Hans Slabbynck, Leslie Naesens, Benoit Florkin, Mary-Anne Young, Amanda Willis, Paloma Lapuente-Suanzes, Ana de Andrés-Martín, Matilda Berkell, Valerio Carelli, Alessia Fiorentino, Surbhi Malhotra, Alessandro Mattiaccio, Tommaso Pippucci, Marco Seri, Evelina Tacconelli, Michiel van Agtmael, Anne Geke Algera, Brent Appelman, Frank van Baarle, Diane Bax, Martijn Beudel, Harm Jan Bogaard, Marije Bomers, Peter Bonta, Lieuwe Bos, Michela Botta, Justin de Brabander, Godelieve de Bree, Sanne de Bruin, David T.P. Buis, Marianna Bugiani, Esther Bulle, Osoul Chouchane, Alex Cloherty, Mirjam Dijkstra, Dave A. Dongelmans, Romein W.G. Dujardin, Paul Elbers, Lucas Fleuren, Suzanne Geerlings, Theo Geijtenbeek, Armand Girbes, Bram Goorhuis, Martin P. Grobusch, Florianne Hafkamp, Laura Hagens, Jorg Hamann, Vanessa Harris, Robert Hemke, Sabine M. Hermans, Leo Heunks, Markus Hollmann, Janneke Horn, Joppe W. Hovius, Menno D. de Jong, Rutger Koning, Endry H.T. Lim, Niels van Mourik, Jeaninne Nellen, Esther J. Nossent, Frederique Paulus, Edgar Peters, Dan A.I. Pina-Fuentes, Tom van der Poll, Bennedikt Preckel, Jan M. Prins, Jorinde Raasveld, Tom Reijnders, Maurits C.F. J. de Rotte, Michiel Schinkel, Marcus J. Schultz, Femke A.P. Schrauwen, Alex Schuurmans, Jaap Schuurmans, Kim Sigaloff, Marleen A. Slim, Patrick Smeele, Marry Smit, Cornelis S. Stijnis, Willemke Stilma, Charlotte Teunissen, Patrick Thoral, Anissa M. Tsonas, Pieter R. Tuinman, Marc van der Valk, Denise P. Veelo, Carolien Volleman, Heder de Vries, Lonneke A. Vught, Michèle van Vugt, Dorien Wouters, A.H. Zwinderman, Matthijs C. Brouwer, W. Joost Wiersinga, Alexander P.J. Vlaar, Miranda F. Tompkins, Camille Alba, Daniel N. Hupalo, John Rosenberger, Gauthaman Sukumar, Matthew D. Wilkerson, Xijun Zhang, Justin Lack, Andrew J. Oler, Kerry Dobbs, Ottavia M. Delmonte, Jeffrey J. Danielson, Andrea Biondi, Laura Rachele Bettini, Mariella D’Angiò, Ilaria Beretta, Luisa Imberti, Alessandra Sottini, Virginia Quaresima, Eugenia Quiros-Roldan, Camillo Rossi, Riccardo Castagnoli, Daniela Montagna, Amelia Licari, and Gian Luigi Marseglia

Subjects
HLA, association, asymptomatic infection, COVID-19, population stratification, Genetics, QH426-470
Abstract

Summary: Human genetic studies of critical COVID-19 pneumonia have revealed the essential role of type I interferon-dependent innate immunity to SARS-CoV-2 infection. Conversely, an association between the HLA-B∗15:01 allele and asymptomatic SARS-CoV-2 infection in unvaccinated individuals was recently reported, suggesting a contribution of pre-existing T cell-dependent adaptive immunity. We report a lack of association of classical HLA alleles, including HLA-B∗15:01, with pre-omicron asymptomatic SARS-CoV-2 infection in unvaccinated participants in a prospective population-based study in the United States (191 asymptomatic vs. 945 symptomatic COVID-19 cases). Moreover, we found no such association in the international COVID Human Genetic Effort cohort (206 asymptomatic vs. 574 mild or moderate COVID-19 cases and 1,625 severe or critical COVID-19 cases). Finally, in the Human Challenge Characterisation study, the three HLA-B∗15:01 individuals infected with SARS-CoV-2 developed symptoms. As with other acute primary infections studied, no classical HLA alleles favoring an asymptomatic course of SARS-CoV-2 infection were identified.

Published
2024
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3. Atrial fibrillation in a pediatric patient caused by an unusual malignant etiology: A case report

Author

Jelena Hubrechts, Christophe Vô, Cécile Boulanger, Katherine Carkeek, and Stéphane Moniotte

Subjects
atrial fibrillation, child, lymphoma, cardiac involvement, pericardial invasion, cardioversion, Pediatrics, RJ1-570
Abstract

This case report describes a 15-year-old patient with a known congenital malformation syndrome and immune deficiency, presenting with new-onset atrial fibrillation (AF) after a recent diagnosis of an intrathoracic mass. Transthoracic echocardiography showed a structurally and functionally normal heart and workup confirmed a primary diffuse large B-cell lymphoma, with pericardial and left atrial involvement on cardiac magnetic resonance imaging. Electrical cardioversion was successfully performed to convert the AF and chemotherapy was promptly started. Antiarrhythmic treatment was continued for 6 weeks, without recurrent AF. We discuss the pathogenesis of AF in the setting of malignancies as well as the management strategies of AF, mainly based on adult guidelines.

Published
2023
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4. Detection of alternative lengthening of telomeres mechanism on tumor sections

Author

Eloïse Claude, Guillaume de Lhoneux, Christophe E. Pierreux, Etienne Marbaix, Maëlle de Ville de Goyet, Cécile Boulanger, An Van Damme, Bénédicte Brichard, and Anabelle Decottignies

Subjects
Telomere, Alternative lengthening of telomeres, Native telomeric FISH, Paediatric tumor, ALT xenograft, Medicine
Abstract

Abstract The vast majority of adult cancer cells achieve cellular immortality by activating a telomere maintenance mechanism (TMM). While this is mostly achieved by the de-silencing of hTERT telomerase gene expression, an alternative homologous recombination-based and telomerase-independent mechanism, known as ALT (Alternative Lengthening of Telomeres), is frequently activated in a subset of tumors, including paediatric cancers. Being absent from normal cells, the ALT mechanism offers interesting perspectives for new targeted cancer therapies. To date, however, the development of better translationally applicable tools for ALT detection in tumor sections is still needed. Here, using a newly derived ALT-positive cancer cell mouse xenograft model, we extensively examined how the previously known ALT markers could be used as reliable tools for ALT diagnosis in tumor sections. We found that, together with the detection of ultra-bright telomeric signals (UBS), an ALT hallmark, native telomeric FISH, that detects single-stranded C-rich telomeric DNA, provides a very sensitive and robust tool for ALT diagnosis in tissues. We applied these assays to paediatric tumor samples and readily identified three ALT-positive tumors for which the TMM was confirmed by the gold-standard C-circle amplification assay. Although the latter offers a robust assay for ALT detection in the context of research laboratories, it is more difficult to set up in histopathological laboratories and could therefore be conveniently replaced by the combination of UBS detection and native telomeric FISH.

Published
2021
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5. Successful use of empagliflozin to treat neutropenia in two G6PC3-deficient children: Impact of a mutation in SGLT5

Author

Cécile Boulanger, Xavier Stephenne, Jennifer Diederich, Pierre Mounkoro, Nathalie Chevalier, Alina Ferster, Emile Van Schaftingen, Maria Veiga‐da‐Cunha, UCL - SSS/DDUV/BCHM - Biochimie-Recherche métabolique, UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, and UCL - (SLuc) Service d'hématologie et d'oncologie pédiatrique

Subjects
Neutropenia, Monosaccharide Transport Proteins, 5-anhydroglucitol, empagliflozin, Glycogen Storage Disease Type I, urologic and male genital diseases, Sodium-Glucose Transport Proteins, Antiporters, SGLT5, Mice, Glucosides, SGLT2-inhibitors, Genetics, Animals, Humans, glycogen Storage Disease 1b, Benzhydryl Compounds, Genetics (clinical), Phosphoric Monoester Hydrolases, G6PC3-deficiency, glcogen storage disease 1b, Mutation, Glucose-6-Phosphatase, GSD1b, 1.5-anhydroglucitol
Abstract

Neutropenia and neutrophil dysfunction found in deficiencies in G6PC3 and in the glucose-6-phosphate transporter (G6PT/SLC37A4) are due to accumulation of 1,5-anhydroglucitol-6-phosphate (1,5-AG6P), an inhibitor of hexokinase made from 1,5-anhydroglucitol (1,5-AG), an abundant polyol present in blood. Lowering blood 1,5-AG with an SGLT2 inhibitor greatly improved neutrophil counts and function in G6PC3-deficient mice and in patients with G6PT-deficiency. We evaluate this treatment in two G6PC3-deficient children. While neutropenia was severe in one child (PT1), which was dependent on granulocyte cololony-stimulating factor (GCSF), it was significantly milder in the other one (PT2), which had low blood 1,5-AG levels and only required GCSF during severe infections. Treatment with the SGLT2-inhibitor empagliflozin decreased 1,5-AG in blood and 1,5-AG6P in neutrophils and improved (PT1) or normalized (PT2) neutrophil counts, allowing to stop GCSF. On empagliflozin, both children remained infection-free (>1 year - PT2; >2 years - PT1) and no side effects were reported. Remarkably, sequencing of SGLT5, the gene encoding the putative renal transporter for 1,5-AG, disclosed a rare heterozygous missense mutation in PT2, replacing the extremely conserved Arg401 by a histidine. The higher urinary clearance of 1,5-AG explains the more benign neutropenia and the outstanding response to empagliflozin treatment found in this child. Our data shows that SGLT2 inhibitors are an excellent alternative to treat the neutropenia present in G6PC3-deficiency.

Published
2022

6. B-acute Lymphoblastic Leukemia With Hypereosinophilia Associated With Severe Cardiac Complications: A Clinical Case

Author

An Van Damme, Thierry Detaille, Anissa Lahfafa, Jean-Philippe Defour, Bénédicte Brichard, Maëlle de Ville de Goyet, Cécile Boulanger, UCL - SSS/DDUV - Institut de Duve, UCL - SSS/DDUV/SIGN - Cell signalling, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Service de biologie hématologique, UCL - (SLuc) Service d'hématologie et d'oncologie pédiatrique, and UCL - (SLuc) Service de soins intensifs

Subjects
Male, Pediatrics, medicine.medical_specialty, Lymphoma, B-Cell, Adolescent, Lymphoblastic Leukemia, Hypereosinophilia, Context (language use), Disease, 03 medical and health sciences, 0302 clinical medicine, hemic and lymphatic diseases, Hypereosinophilic Syndrome, medicine, Humans, B Acute Lymphoblastic Leukemia, business.industry, Hematology, Precursor Cell Lymphoblastic Leukemia-Lymphoma, Eosinophil, Prognosis, medicine.anatomical_structure, Oncology, 030220 oncology & carcinogenesis, Pediatrics, Perinatology and Child Health, Clinical case, medicine.symptom, Cardiomyopathies, business, 030215 immunology
Abstract

Hypereosinophilia (HE) is rare but often secondary to a nonhematologic disease such as allergic disorders and parasitic infections. HE can also be associated with hematologic malignancies and be the result of a clonal proliferation or reactive to another hematologic condition. Association of HE with acute lymphoblastic leukemia (ALL) is rare in children. We reported a case of a teenager presented with HE secondary to B-ALL who experienced severe cardiac complications with severe absolute eosinophil count. We compared his clinical evolution with other published cases and we reported 2 mutations linked to B-ALL never described before in this context.

Published
2020

7. Safety of reducing antibiotic use in children with febrile neutropenia: A systematic review

Author

Jennifer, Moortgat, Cécile, Boulanger, Olga, Chatzis, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service d'hématologie et d'oncologie pédiatrique, and UCL - (SLuc) Service de pédiatrie générale

Subjects
Oncology, hemic and lymphatic diseases, Pediatrics, Perinatology and Child Health, Humans, Bacterial Infections, Hematology, Child, Anti-Bacterial Agents, Febrile Neutropenia
Abstract

Febrile neutropenia is the most frequent complication in children treated with chemotherapy. Nevertheless, neutropenic children are a very heterogeneous group and invasive bacterial infections concern a minority of patients. Reducing antibiotics would bring many benefits. Yet, we can only explore this strategy if the safety of children is preserved. The main aims of this review were to study the safety and effectiveness of reducing antibiotic use in children with febrile neutropenia in terms of duration, route of administration (oral versus intravenous) and narrowing of antimicrobial spectrum. Cochrane Library, Pubmed and Embase were searched for relevant articles until February 2020. We have included all articles describing controlled trials written in French or in English. The risk of bias was assessed with ROB-2 (Cochrane Handbook for Systematic Reviews of Interventions Version 6.0. 2019, Chap. 8) or ROBINS-1 (Cochrane Handbook for Systematic Reviews of Interventions Version 6.0. 2019, Chap. 25). On 2351 articles, the systematic research retained 13 studies. Nine were used for a meta-analysis comparing oral versus intravenous treatment. We found no pediatric studies concerning de-escalation of empiric broad-spectrum antibiotics. No publication biases were found and almost all of the selected studies were at low risk or with some concern for bias. In comparing oral versus intravenous treatment and early cessation versus continuing antibiotics when no infection is proven, we found no difference in terms of safety (mortality and admission in intensive care unit) and efficacy (need of readmission/antibiotic modification/recurrence of fever). It seems safe and effective to provide oral treatment in low-risk febrile neutropenia and to stop antibiotics when no bacterial infection is proven. Spectrum reduction remains an important topic in pediatric research. Supplemental data for this article is available online at https://doi.org/10.1080/08880018.2022.2055245

Published
2022
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8. Total en bloc spondylectomy of T11 and spine shortening performed on a 17-month-old patient: art of the possible

Author

Laurent Coubeau, Frédéric Lecouvet, Cécile Boulanger, Xavier Banse, Mo Saffarini, UCL - (SLuc) Service d'orthopédie et de traumatologie de l'appareil locomoteur, UCL - SSS/IREC/IMAG - Pôle d'imagerie médicale, UCL - (SLuc) Service de radiologie, UCL - (SLuc) Service de chirurgie et transplantation abdominale, UCL - SSS/IREC/SLUC - Pôle St.-Luc, and UCL - (SLuc) Service d'hématologie et d'oncologie pédiatrique

Subjects
Spondylectomy, musculoskeletal diseases, medicine.medical_specialty, Pediatric surgery, Thoracic Vertebrae, 03 medical and health sciences, 0302 clinical medicine, Vertebrectomy, Rhabdomyosarcoma, medicine, Humans, Orthopedics and Sports Medicine, Spine shortening, 030222 orthopedics, Lumbar Vertebrae, Spinal Neoplasms, business.industry, Infant, Plastic Surgery Procedures, musculoskeletal system, medicine.disease, Vertebra, Surgery, Spine (zoology), medicine.anatomical_structure, Oncology, Sarcoma, Anterior approach, Neurosurgery, Neoplasm Recurrence, Local, business, 030217 neurology & neurosurgery
Abstract

STUDY DESIGN: Case report. PURPOSE: The authors used spine shortening as an alternative strategy to intercalary graft fixation to restore permanent spine stability for a 17-month-old infant who received total en bloc spondylectomy (TES) of T11 to treat an embryonic rhabdomyosarcoma. TES involves complete removal of vertebra, compensated by spine reconstruction using intercalary allografts and permanent posterior instrumentation, which is not possible for skeletally immature patients with high growth potential and non-ossified vertebrae. METHODS: Surgery was performed over two consecutive days. During the first day, the tumor was released from its dorsal attachments through the posterior approach. During the second day, the tumor was dissected and excised through the anterior approach, leaving a gap between T10 and T12. The two vertebrae were then drawn toward each other until the gap was bridged. The dural sac slipped into the canal under T10 and T12 with no observable kinking. RESULTS: Fifteen weeks after surgery, thoraco-abdominal CT confirmed fusion of the T10 and T12 vertebral bodies. Three years later, the patient lives a normal life with no major neurological deficits or recurrence of sarcoma. CONCLUSIONS: This case report is the first to demonstrate the feasibility of TES with spine shortening of an entire thoracic segment without spine kinking or damage in an infant. This unprecedented surgical technique allowed complete removal of an embryonic rhabdomyosarcoma, while granting rapid stability and growth potential. LEVEL OF EVIDENCE: IV.

Published
2019

9. Detection of alternative lengthening of telomeres mechanism on tumor sections

Author

Guillaume de Lhoneux, Christophe E. Pierreux, Etienne Marbaix, Cécile Boulanger, An Van Damme, Bénédicte Brichard, Maëlle de Ville de Goyet, Eloïse Claude, and Anabelle Decottignies

Subjects
Telomerase, Paediatric tumor, Native telomeric FISH, Research, Cancer, Context (language use), Telomere, Biology, medicine.disease, ALT xenograft, Molecular medicine, Alternative lengthening of telomeres, Cancer cell, Cancer research, medicine, Medicine, Molecular Medicine, Telomerase reverse transcriptase, Homologous recombination, Molecular Biology
Abstract

The vast majority of adult cancer cells achieve cellular immortality by activating a telomere maintenance mechanism (TMM). While this is mostly achieved by the de-silencing of hTERT telomerase gene expression, an alternative homologous recombination-based and telomerase-independent mechanism, known as ALT (Alternative Lengthening of Telomeres), is frequently activated in a subset of tumors, including paediatric cancers. Being absent from normal cells, the ALT mechanism offers interesting perspectives for new targeted cancer therapies. To date, however, the development of better translationally applicable tools for ALT detection in tumor sections is still needed. Here, using a newly derived ALT-positive cancer cell mouse xenograft model, we extensively examined how the previously known ALT markers could be used as reliable tools for ALT diagnosis in tumor sections. We found that, together with the detection of ultra-bright telomeric signals (UBS), an ALT hallmark, native telomeric FISH, that detects single-stranded C-rich telomeric DNA, provides a very sensitive and robust tool for ALT diagnosis in tissues. We applied these assays to paediatric tumor samples and readily identified three ALT-positive tumors for which the TMM was confirmed by the gold-standard C-circle amplification assay. Although the latter offers a robust assay for ALT detection in the context of research laboratories, it is more difficult to set up in histopathological laboratories and could therefore be conveniently replaced by the combination of UBS detection and native telomeric FISH. Supplementary Information The online version contains supplementary material available at 10.1186/s43556-021-00055-y.

Published
2021

10. Preliminary Results of first Belgian Cohort of Juvenile Idiopathic Arthritis: Where Do we Stand in Terms of Quality of Care and Remission?

Author

C. La, Valérie Badot, Bernard Lauwerys, Alina Ferster, Tatiana Sokolova, Laurence Goffin, Phu Quoc Lê, Cécile Boulanger, Viviane De Maertelaer, and P. Durez

Subjects
musculoskeletal diseases, Pediatrics, medicine.medical_specialty, genetic structures, business.industry, Cohort, medicine, Arthritis, Juvenile, Quality of care, medicine.disease, business, skin and connective tissue diseases
Abstract

IntroductionJuvenile idiopathic arthritis (JIA) represents a very heterogeneous disease. As such, it has been a challenge to describe the disease activity of JIA cohorts. Our objective was to describe the first Belgian cohort of children with JIA by assessing their disease characteristics, outcomes, and potential markers of prognosis.MethodsThe CAP48 cohort is a multicentric observational study of children with recent or well-established diagnosis of JIA (naïve or not to treatment at baseline), evaluated every 3 to 6 months during a follow-up of 10 years.ResultsThere were 125 children included, composing of 25 naïve and 100 established patients. Their median age at onset was 6.2 and 4.2 years in the naïve and established cohort respectively, with a predominance of female. All subtypes of JIA were represented in both cohorts. The mean DAS28-CRP and JADAS10-CRP at baseline in naïve patients was 2.52 and 6.0 respectively. Uveitis occurred in 19% of patients and was strongly associated with presence of antinuclear antibodies (odds ratio of 6). Among naïve patients, 55% were in remission at 12 months according to ACR criteria and JADAS10 scores, in contrast with 100% achieving DAS28 remission. ConclusionThis first cohort study in Belgium allowed to compare its data to other existing cohorts and to evaluate quality of care in Belgian French-speaking hospitals. Additionally, it highlighted a superiority of JADAS10 over DAS28 to monitor and evaluate remission in JIA. This study also underlined a need for more accurate markers of prognosis to improve treatment and long-term outcomes.

Published
2021

11. Atypical phenotype? The answer’s in the genotype: AGS caused by a novel RNASEH2C variant combined with XLA caused by a BTK deficiency

Author

Delphine Nolf, Cécile Boulanger, Bénédicte Brichard, Nisha Limaye, Bernard Lauwerys, Marie-Cécile Nassogne, Olga Chatzis, UCL - SSS/DDUV - Institut de Duve, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - SSS/IREC/FATH - Pôle de Pharmacologie et thérapeutique, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Service d'infectiologie pédiatrique, UCL - (SLuc) Service de neurologie pédiatrique, UCL - (SLuc) Service d'hématologie et d'oncologie pédiatrique, UCL - (SLuc) Service de rhumatologie, and UCL - SSS/DDUV/GEDI - Genetics of Autoimmune Diseases and Cancer

Subjects
Male, biology, Genotype, business.industry, Ribonuclease H, Genetic Diseases, X-Linked, Nervous System Malformations, Phenotype, Consanguinity, Autoimmune Diseases of the Nervous System, Rheumatology, Agammaglobulinemia, Exome Sequencing, Immunology, Agammaglobulinaemia Tyrosine Kinase, biology.protein, Humans, Medicine, Bruton's tyrosine kinase, Atypical phenotype, Pharmacology (medical), Child, business
Abstract

DEAR EDITOR, The feasibility of testing multiple genes at once using Next Generation Sequencing, particularly Whole Exome Sequencing (WES), has expanded the phenotypic spectrum associated with many disease genes. Distinguishing atypical presentation from combined gene effects and incidental from causal findings can however be challenging, particularly when composite phenotypes are themselves extremely rare. [...]

Published
2021

12. Serum calprotectin (S100A8/A9): a promising biomarker in diagnosis and follow-up in different subgroups of juvenile idiopathic arthritis

Author

C. La, Tatiana Sokolova, Alina Ferster, Patrick Durez, Delphine Spruyt, Joanne Rasschaert, Valérie Badot, Cécile Boulanger, Bernard Lauwerys, Laurence Goffin, Phu Quoc Lê, UCL - (SLuc) Service de rhumatologie, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - SSS/IREC/RUMA - Pôle de Pathologies rhumatismales, and UCL - (SLuc) Service d'hématologie et d'oncologie pédiatrique

Subjects
medicine.medical_specialty, genetic structures, Immunology, Arthritis, Blood Sedimentation, Gastroenterology, Juvenile Arthritis Disease Activity Score, Rheumatology, Internal medicine, medicine, Immunology and Allergy, Calgranulin B, Humans, Calgranulin A, outcome assessment, Oligoarthritis, medicine.diagnostic_test, business.industry, Paediatric Rheumatology, medicine.disease, health care, Arthritis, Juvenile, inflammation, Erythrocyte sedimentation rate, Cohort, juvenile idiopathic arthritis, Medicine, Biomarker (medicine), Polyarthritis, Calprotectin, business, Leukocyte L1 Antigen Complex, Biomarkers, Follow-Up Studies
Abstract

Introduction In the management of juvenile idiopathic arthritis (JIA), there is a lack of diagnostic and prognostic biomarkers. This study assesses the use of serum calprotectin (sCal) as a marker to monitor disease activity, and as a classification and prognosis tool of response to treatment or risk of flares in patients with JIA. Methods Eighty-one patients with JIA from the CAP48 multicentric cohort were included in this study, as well as 11 non-paediatric healthy controls. An ELISA method was used to quantify sCal with a commercial kit. Results Patients with an active disease compared with healthy controls and with patients with inactive disease showed an eightfold and a twofold increased level of sCal, respectively. sCal was found to be correlated with the C-reactive protein (CRP) and even more strongly with the erythrocyte sedimentation rate. Evolution of DAS28 scores correlated well with evolution of sCal, as opposed to evolution of CRP. With regard to CRP, sCal could differentiate forms with active oligoarthritis from polyarthritis and systemic forms. However, sCal brought an added value compared with the CRP as a prognosis marker. Indeed, patients with active disease and reaching minimal disease activity (according to Juvenile Arthritis Disease Activity Score) at 6 months following the test had higher sCal levels, while patients with inactive disease had higher sCal levels if a flare was observed up to 3–9 months following the test. Conclusions This study confirms the potential uses of sCal as a biomarker in the diagnosis and follow-up of JIA.

Published
2021

13. Rapid identification and characterization of infected cells in blood during chronic active Epstein-Barr virus infection

Author

Vincent Barlogis, David Boutboul, Thierry Jo Molina, Marion Malphettes, Martin Castelle, Felipe Suarez, Benjamin Fournier, Lionel Galicier, Despina Moshous, Isabelle Pellier, Sarah Winter, Julie Bruneau, Henri Jacques Delecluse, Cécile Boulanger, Bertrand Dunogué, Benjamin Terrier, Alain Fischer, Capucine Picard, Charline Miot, Bénédicte Neven, Sylvain Latour, Stephan Ehl, Stéphane Blanche, Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, and UCL - (SLuc) Service d'hématologie et d'oncologie pédiatrique

Subjects
Adult, Male, Epstein-Barr Virus Infections, Herpesvirus 4, Human, Infectious disease and host defense, [SDV]Life Sciences [q-bio], T-Lymphocytes, Immunology, Cell, Lymphoproliferative disorders, Biology, Peripheral blood mononuclear cell, Technical Advances and Resources, Virus, 03 medical and health sciences, 0302 clinical medicine, hemic and lymphatic diseases, Plasma cell differentiation, medicine, Humans, Immunodeficiency, Immunology and Allergy, Child, Epstein–Barr virus infection, ComputingMilieux_MISCELLANEOUS, In Situ Hybridization, Fluorescence, 030304 developmental biology, B-Lymphocytes, 0303 health sciences, Viral Load, Flow Cytometry, medicine.disease, Phenotype, Lymphoproliferative Disorders, 3. Good health, Killer Cells, Natural, Leukemia & Lymphoma, medicine.anatomical_structure, Child, Preschool, 030220 oncology & carcinogenesis, Chronic Disease, RNA, Viral, Female, Cytometry
Abstract

Diagnosis of EBV-driven T/NK-cell lymphoproliferative disorders and chronic active EBV diseases is often difficult. Fournier et al. report a flow-FISH cytometry assay allowing rapid identification of EBV-infected cells in blood and accurate diagnoses. It represents a powerful tool to study pathophysiological mechanisms of EBV-LPD., Epstein-Barr virus (EBV) preferentially infects epithelial cells and B lymphocytes and sometimes T and NK lymphocytes. Persistence of EBV-infected cells results in severe lymphoproliferative disorders (LPDs). Diagnosis of EBV-driven T or NK cell LPD and chronic active EBV diseases (CAEBV) is difficult, often requiring biopsies. Herein, we report a flow-FISH cytometry assay that detects cells expressing EBV-encoded small RNAs (EBERs), allowing rapid identification of EBV-infected cells among PBMCs. EBV-infected B, T, and/or NK cells were detectable in various LPD conditions. Diagnosis of CAEBV in 22 patients of Caucasian and African origins was established. All exhibited circulating EBV-infected T and/or NK cells, highlighting that CAEBV is not restricted to native American and Asian populations. Proportions of EBV-infected cells correlated with blood EBV loads. We showed that EBV-infected T cells had an effector memory activated phenotype, whereas EBV-infected B cells expressed plasma cell differentiation markers. Thus, this method achieves accurate and unambiguous diagnoses of different forms of EBV-driven LPD and represents a powerful tool to study their pathophysiological mechanisms.

Published
2020

14. Clinical Spectrum of Ras-Associated Autoimmune Leukoproliferative Disorder (RALD)

Author

Leen Moens, Cécile Boulanger, Isabelle Meyts, Bénédicte Brichard, An Van Damme, Maëlle de Ville de Goyet, Annelyse Bruwier, Quentin Neven, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, and UCL - (SLuc) Service d'hématologie et d'oncologie pédiatrique

Subjects
0301 basic medicine, Neuroblastoma RAS viral oncogene homolog, Male, Ras-associated autoimmune leukoproliferative disorder, Autoimmunity, medicine.disease_cause, Gastroenterology, 0302 clinical medicine, Immunology and Allergy, Child, Skin, Juvenile myelomonocytic leukemia, RAS-associated autoimmune leukoproliferative disorder, Disease Management, Prognosis, Combined Modality Therapy, Phenotype, Treatment Outcome, Child, Preschool, Female, KRAS, Disease Susceptibility, Adult, medicine.medical_specialty, Adolescent, Genotype, Immunology, Karyotype, NRAS, Malignancy, Autoimmune Diseases, Diagnosis, Differential, 03 medical and health sciences, Young Adult, Monocytosis, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Alleles, Myeloproliferative Disorders, business.industry, Autoimmune Cytopenia, Autoimmune Lymphoproliferative Syndrome, Infant, medicine.disease, 030104 developmental biology, Autoimmune lymphoproliferative syndrome, Mutation, ras Proteins, business, 030215 immunology
Abstract

Ras-associated autoimmune leukoproliferative disorder (RALD) is a clinical entity initially identified in patients evaluated for an autoimmune lymphoproliferative syndrome (ALPS)-like phenotype. It remains a matter of debate whether RALD is a chronic and benign lymphoproliferative disorder or a pre-malignant condition. We report the case of a 7-year-old girl diagnosed with RALD due to somatic KRAS mutation who progressed to a juvenile myelomonocytic leukemia phenotype and finally evolved into acute myeloid leukemia. The case report prompted a literature review by a search for all RALD cases published in PubMed and Embase. We identified 27 patients with RALD. The male-to-female ratio was 1:1 and median age at disease onset was 2 years (range 3 months-36 years). Sixteen patients (59%) harbored somatic mutations in KRAS and 11 patients (41%) somatic mutations in NRAS. The most common features were splenomegaly (26/27 patients), autoimmune cytopenia (15/16 patients), monocytosis (18/24 patients), pericarditis (6 patients), and skin involvement (4 patients). Two patients went on to develop a hematopoietic malignancy. In summary, the current case documents an additional warning about the long-term risk of malignancy in RALD.

Published
2020

15. Multiple Epstein-Barr Virus–associated Smooth Muscle Sarcomas of the Gut in a Child Treated for Acute Lymphoblastic Leukemia

Author

Sophie Dupont, Maëlle de Ville de Goyet, Cécile Boulanger, Christine Galant, Catherine De Magnee, Bénédicte Brichard, An Van Damme, UCL - SSS/IREC/MORF - Pôle de Morphologie, UCL - SSS/IREC/CHEX - Pôle de chirgurgie expérimentale et transplantation, UCL - (SLuc) Service d'hématologie et d'oncologie pédiatrique, UCL - (SLuc) Service de chirurgie et transplantation abdominale, and UCL - (SLuc) Service d'anatomie pathologique

Subjects
Male, Epstein-Barr Virus Infections, Herpesvirus 4, Human, Pathology, medicine.medical_specialty, secondary neoplasm, medicine.medical_treatment, medicine.disease_cause, Virus, 03 medical and health sciences, 0302 clinical medicine, Maintenance therapy, Precursor B-Cell Lymphoblastic Leukemia-Lymphoma, hemic and lymphatic diseases, Intestinal Neoplasms, medicine, Epstein-Barr virus, Humans, Child, PI3K/AKT/mTOR pathway, Sirolimus, Muscle Neoplasms, business.industry, acute lymphoblastic leukemia treatment complications, Muscle, Smooth, Sarcoma, Immunosuppression, Hematology, Explorative laparotomy, Epstein–Barr virus, Small intestine, smooth muscle tumor, medicine.anatomical_structure, Oncology, 030220 oncology & carcinogenesis, Pediatrics, Perinatology and Child Health, business, immunodeficiency, 030215 immunology, medicine.drug
Abstract

A 7-year-old boy with a history of low-risk acute lymphoblastic leukemia developed multiple intussusceptions shortly after the end of maintenance therapy. Explorative laparotomy showed >10 polyps in the small intestine. Histologic examination revealed intestinal smooth muscle sarcomas associated with Epstein-Barr virus. The patient recovered well after partial cuneiform resection of the largest polyps and treatment with sirolimus. This case report indicates that these tumors may arise even after moderate transient immunosuppression and that association with acute lymphoblastic leukemia is possible although rarely described. We discuss the potential benefit of the mTor/Akt signal inhibitors as treatment for these tumors.

Published
2019

16. DNAJB1-PRKACA-positive metastatic fibrolamellar carcinoma with unknown primary in a pediatric patient

Author

Samuel Balbeur, Louis Libbrecht, Michael Torbenson, Cécile Boulanger, Maëlle de Ville de Goyet, An Van Damme, Julien Mergen, Adeline Dumortier, Bénédicte Brichard, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Service d'anatomie pathologique, and UCL - (SLuc) Service d'hématologie et d'oncologie pédiatrique

Subjects
tumors, Pathology, medicine.medical_specialty, Liver tumor, Carcinoma, Hepatocellular, Adolescent, Fusion gene, 03 medical and health sciences, Liver disease, 0302 clinical medicine, hemic and lymphatic diseases, Antineoplastic Combined Chemotherapy Protocols, medicine, Humans, Cancer genetics, Peritoneal Neoplasms, Genetic testing, Gene Rearrangement, Cyclic AMP-Dependent Protein Kinase Catalytic Subunits, medicine.diagnostic_test, business.industry, Hematology, HSP40 Heat-Shock Proteins, medicine.disease, Prognosis, PRKACA, Oncology, Liver, Pediatric hematology/oncology, 030220 oncology & carcinogenesis, Hepatocellular carcinoma, Pediatrics, Perinatology and Child Health, Immunohistochemistry, Neoplasms, Unknown Primary, Female, business, Fibrolamellar Carcinoma, 030215 immunology
Abstract

Fibrolamellar carcinoma (FLC) is a rare variant of hepatocellular carcinoma, occurring in children and young adults without underlying liver disease. The diagnosis is based on morphological characteristics of the tumor, supplemented by immunohistochemistry and/or genetic testing. Recently, the presence of a characteristic DNAJB1-PRKACA fusion gene has been associated with FLC. Herein, we report a case of FLC presenting as peritoneal carcinomatosis in a 14-year-old female. Interestingly, no liver tumor was seen on imaging, and an alternative possibility is that the tumor arose outside the liver as a hepatoid carcinoma with fibrolamellar features.

Published
2019

17. POS0067 HIGH DEGREE OF INTER-PATIENT HETEROGENEITY IN SYNOVIOCYTE HYPERPLASIA AND IMMUNE CELLS INFILTRATION IN THE SYNOVIUM OF JUVENILE IDIOPATHIC ARTHRITIS PATIENTS

Author

Bernard Lauwerys, L. Meric de Bellefon, T. Sokolova, Christine Galant, Clement Triaille, P. Durez, A. Nzeusseu Toukap, Nisha Limaye, and Cécile Boulanger

Subjects
Pathology, medicine.medical_specialty, business.industry, Immunology, Arthritis, Hyperplasia, medicine.disease, General Biochemistry, Genetics and Molecular Biology, Degree (temperature), Immune system, Rheumatology, medicine, Immunology and Allergy, Juvenile, business, Infiltration (medical)
Abstract

Background:Increasing evidence indicates that synovial tissue analysis can deliver pathophysiological insights but also individual clinically-relevant information in adult-onset inflammatory arthritides. Little is known about synovial pathology in juvenile idiopathic arthritis, especially regarding inter-patient variability of histopathological features.Objectives:To assess the heterogeneity of main synovial features (synoviocyte hyperplasia and immune cells infiltration) in juvenile idiopathic arthritis (JIA) patients and a cohort of young adults (Methods:Synovial biopsies were sampled using needle arthroscopy or ultra-sound (US) guided biopsy during intra-articular joint injection. Tissue was embedded in paraffin then sections were stained with hematoxylin and eosin. Synoviocyte hyperplasia (SH) and immune cells infiltration (ICI) was assessed by an experienced pathologist on a 0 – 3 scale where 0 represents the absence of the feature and 3 the highest level.Results:34 JIA patients (age (median ±SD): 15.5±6.47 years, oligo-articular JIA n=28/34, polyarticular JIA n=6/34, ANA-RF-ACPA positivity=56%-10%-3%) and 22 RA (age (median ±SD): 24.3±2.6 years, ANA-RF-ACPA positivity=10%-36%-32%) patients were included. Synovial tissue was obtained from knee (n=49/56), wrist (n=4/56) or metacarpophalangeal/intercarpophalangeal joints (n=3/56), using US guided biopsy in 27% of patients and needle arthroscopy in 73%.Individual scores of SH and ICI were correlated in both JIA (Spearman’s r=0.503, p value=0.0024) and RA (Spearman’s r=0.636, p value=0.0015). There was no significant difference in SH and ICI scores between the 2 groups (SH score (Q25-Q50-Q75) in JIA= 0.5-1.125-2 and in RA = 0.75-2-2; ICI score (Q25-Q50-Q75) in JIA= 1-2-2 and in RA = 0.75-2-2.25). Intra-group variability of the two assessed features was comparable between the 2 groups (SH coefficient of variation: 72.2% for JIA and 68.2% for RA; ICI coefficient of variation: 52.2% for JIA and 71.2% for RA). Within JIA patients, there was no significant difference in SH/ICI scores between groups based on ANA positivity, oligo or polyarticular involvement nor ongoing treatment.Conclusion:Studying main histological features of synovitis, we found no difference between JIA and young RA patients. Furthermore, we report a similar degree of inter-patient heterogeneity in synovial pathological features of JIA and RA patients. These variations were not explained by common clinical characteristics. Whether they relate to different molecular signatures as suggested in adult RA will be further investigated using bulk tissue RNA sequencing.Acknowledgements:This work was funded in part by Cap48 (RTBF). Clément Triaille is funded by the Fonds National de la Recherche Scientifique (FNRS, Communauté française de Belgique) and Fondation Saint-Luc (Cliniques Universitaires Saint-Luc).Disclosure of Interests:Clément Triaille: None declared, Cécile Boulanger: None declared, Tatiana Sokolova: None declared, Laurent Meric de Bellefon: None declared, Adrien Nzeusseu Toukap: None declared, Christine Galant: None declared, Nisha Limaye: None declared, Bernard Lauwerys Employee of: currently employed at UCB Biopharma, Patrick Durez: None declared.

Published
2021

18. Pediatrics Surface Osteosarcomas: A French Multicenter Study (SURFOS), Which is the Most Appropriate Treatment?

Author

Anne Brouchet-Gomez, Laurence Brugières, Pascale Blouin, Cécile Boulanger, Nadège Corradini, Marlène Pasquet, Nathalie Gaspar, Jean Claude Gentet, Caroline Munzer, Christophe Glorion, François Demeocq, Ludovic Mansuy, Perrine Marec-Berard, Jérôme Sales de Gauzy, Marie-Dominique Tabone, Marie-Pierre Castex, and Maryline Poirée

Subjects
Cancer Research, Pediatrics, medicine.medical_specialty, Oncology, Multicenter study, business.industry, medicine, business
Published
2018

19. Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemia

Author

Nicole Revencu, Kriti D. Khandelwal, Carine Carels, Hans van Bokhoven, Tuula Rinne, Ellen van Beusekom, Marjon Bloemen, Hanka Venselaar, Bénédicte Brichard, Gerrit Vriend, Rolph Pfundt, Charlotte W. Ockeloen, Huiqing Zhou, Etienne Sokal, and Cécile Boulanger

Subjects
0301 basic medicine, Genetics, Ectodermal dysplasia, Ectrodactyly, Hay–Wells syndrome, 030105 genetics & heredity, Biology, medicine.disease, Hypogammaglobulinemia, stomatognathic diseases, 03 medical and health sciences, 030104 developmental biology, Protein kinase domain, TP63, medicine, Cancer research, Molecular Developmental Biology, CHUK, Genetics (clinical), Exome sequencing
Abstract

The cardinal features of Ectrodactyly, Ectodermal dysplasia, Cleft lip/palate (EEC), and Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndromes are ectodermal dysplasia (ED), orofacial clefting, and limb anomalies. EEC and AEC are caused by heterozygous mutations in the transcription factor p63 encoded by TP63. Here, we report a patient with an EEC/AEC syndrome-like phenotype, including ankyloblepharon, ED, cleft palate, ectrodactyly, syndactyly, additional hypogammaglobulinemia, and growth delay. Neither pathogenic mutations in TP63 nor CNVs at the TP63 locus were identified. Exome sequencing revealed de novo heterozygous variants in CHUK (conserved helix-loop-helix ubiquitous kinase), PTGER4, and IFIT2. While the variant in PTGER4 might contribute to the immunodeficiency and growth delay, the variant in CHUK appeared to be most relevant for the EEC/AEC-like phenotype. CHUK is a direct target gene of p63 and encodes a component of the IKK complex that plays a key role in NF-κB pathway activation. The identified CHUK variant (g.101980394T>C; c.425A>G; p.His142Arg) is located in the kinase domain which is responsible for the phosphorylation activity of the protein. The variant may affect CHUK function and thus contribute to the disease phenotype in three ways: (1) the variant exhibits a dominant negative effect and results in an inactive IKK complex that affects the canonical NF-κB pathway; (2) it affects the feedback loop of the canonical and non-canonical NF-κB pathways that are CHUK kinase activity-dependent; and (3) it disrupts NF-κB independent epidermal development that is often p63-dependent. Therefore, we propose that the heterozygous CHUK variant is highly likely to be causative to the EEC/AEC-like and additional hypogammaglobulinemia phenotypes in the patient presented here.

Published
2017

20. Serum calprotectin (S100A8/A9): a promising biomarker in diagnosis and follow-up in different subgroups of juvenile idiopathic arthritis

Author

Bernard Lauwerys, Valérie Badot, Joanne Rasschaert, Céline La, Phu Quoc Lê, Alina Ferster, Laurence Goffin, Delphine Spruyt, Cecile Boulanger, and Tatiana Sokolova

Subjects
Medicine
Abstract

Introduction In the management of juvenile idiopathic arthritis (JIA), there is a lack of diagnostic and prognostic biomarkers. This study assesses the use of serum calprotectin (sCal) as a marker to monitor disease activity, and as a classification and prognosis tool of response to treatment or risk of flares in patients with JIA.Methods Eighty-one patients with JIA from the CAP48 multicentric cohort were included in this study, as well as 11 non-paediatric healthy controls. An ELISA method was used to quantify sCal with a commercial kit.Results Patients with an active disease compared with healthy controls and with patients with inactive disease showed an eightfold and a twofold increased level of sCal, respectively. sCal was found to be correlated with the C-reactive protein (CRP) and even more strongly with the erythrocyte sedimentation rate. Evolution of DAS28 scores correlated well with evolution of sCal, as opposed to evolution of CRP. With regard to CRP, sCal could differentiate forms with active oligoarthritis from polyarthritis and systemic forms. However, sCal brought an added value compared with the CRP as a prognosis marker. Indeed, patients with active disease and reaching minimal disease activity (according to Juvenile Arthritis Disease Activity Score) at 6 months following the test had higher sCal levels, while patients with inactive disease had higher sCal levels if a flare was observed up to 3–9 months following the test.Conclusions This study confirms the potential uses of sCal as a biomarker in the diagnosis and follow-up of JIA.

Published
2021
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