New somatic BRAF splicing mutation in Langerhans cell histiocytosis

por Héritier, Sébastien, Hélias-Rodzewicz, Zofia, Chakraborty, Rikhia, Sengal, Amel G., Bellanné-Chantelot, Christine, Thomas, Caroline, Moreau, Anne, Fraitag, Sylvie, Allen, Carl E., Donadieu, Jean, Emile, Jean-François
Publicado 2017

Correction to: New Dominant‑Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130‑Dependent Hyper‑IgE Syndrome

por Arlabosse, Tiphaine, Materna, Marie, Riccio, Orbicia, Schnider, Caroline, Angelini, Federica, Perreau, Matthieu, Rochat, Isabelle, Superti-Furga, Andrea, Campos-Xavier, Belinda, Héritier, Sébastien, Pereira, Anaïs, Deswarte, Caroline, Lévy, Romain, Distefano, Marco, Bustamante, Jacinta, Roelens, Marie, Borie, Raphaël, Le Brun, Mathilde, Crestani, Bruno, Casanova, Jean‑Laurent, Puel, Anne, Hofer, Michaël, Fieschi, Claire, Theodoropoulou, Katerina, Béziat, Vivien, Candotti, Fabio
Publicado 2023

New Dominant-Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130-Dependent Hyper-IgE Syndrome

por Arlabosse, Tiphaine, Materna, Marie, Riccio, Orbicia, Schnider, Caroline, Angelini, Federica, Perreau, Matthieu, Rochat, Isabelle, Superti-Furga, Andrea, Campos-Xavier, Belinda, Héritier, Sébastien, Pereira, Anaïs, Deswarte, Caroline, Lévy, Romain, Distefano, Marco, Bustamante, Jacinta, Roelens, Marie, Borie, Raphaël, Le Brun, Mathilde, Crestani, Bruno, Casanova, Jean-Laurent, Puel, Anne, Hofer, Michaël, Fieschi, Claire, Theodoropoulou, Katerina, Béziat, Vivien, Candotti, Fabio
Publicado 2023

Retrospective French nationwide survey of childhood aggressive vascular anomalies of bone, 1988-2009

por Héritier, Sébastien, Le Merrer, Martine, Jaubert, Francis, Bigorre, Michèle, Gillibert-Yvert, Marion, de Courtivron, Benoit, Ziade, Makram, Bertrand, Yves, Carrie, Christian, Chastagner, Pascal, Bost-Bru, Cécile, Léonard, Jean-Claude, Ouache, Marie, Boccon-Gibod, Liliane, Mary, Pierre, de Blic, Jacques, Pin, Isabelle, Wendling, Daniel, Revillon, Yann, Houdoin, Véronique, Forin, Véronique, Lepointe, Hubert Ducou, Languepin, Jane, Wagnon, Jeanne, Epaud, Ralph, Fauroux, Brigitte, Donadieu, Jean
Publicado 2010

Childhood Langerhans cell histiocytosis with severe lung involvement: a nationwide cohort study

por Le Louet, Solenne, Barkaoui, Mohamed-Aziz, Miron, Jean, Galambrun, Claire, Aladjidi, Nathalie, Chastagner, Pascal, Kebaili, Kamila, Armari-Alla, Corinne, Lambilliotte, Anne, Lejeune, Julien, Moshous, Despina, Della Valle, Valeria, Sileo, Chiara, Ducou Le Pointe, Hubert, Chateil, Jean-François, Renolleau, Sylvain, Piloquet, Jean-Eudes, Portefaix, Aurelie, Epaud, Ralph, Chiron, Raphaël, Bugnet, Emmanuelle, Lorillon, Gwenaël, Tazi, Abdelatif, Emile, Jean-François, Donadieu, Jean, Héritier, Sébastien
Publicado 2020

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

por Briggs, Tracy A., Rice, Gillian I., Adib, Navid, Ades, Lesley, Barete, Stephane, Baskar, Kannan, Baudouin, Veronique, Cebeci, Ayse N., Clapuyt, Philippe, Coman, David, De Somer, Lien, Finezilber, Yael, Frydman, Moshe, Guven, Ayla, Heritier, Sébastien, Karall, Daniela, Kulkarni, Muralidhar L., Lebon, Pierre, Levitt, David, Le Merrer, Martine, Linglart, Agnes, Livingston, John H., Navarro, Vincent, Okenfuss, Ericka, Puel, Anne, Revencu, Nicole, Scholl-Bürgi, Sabine, Vivarelli, Marina, Wouters, Carine, Bader-Meunier, Brigitte, Crow, Yanick J.
Publicado 2016

Erratum to: Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

por Briggs, Tracy A., Rice, Gillian I., Adib, Navid, Ades, Lesley, Barete, Stephane, Baskar, Kannan, Baudouin, Veronique, Cebeci, Ayse N., Clapuyt, Philippe, Coman, David, De Somer, Lien, Finezilber, Yael, Frydman, Moshe, Guven, Ayla, Heritier, Sébastien, Karall, Daniela, Kulkarni, Muralidhar L., Lebon, Pierre, Levitt, David, Le Merrer, Martine, Linglart, Agnes, Livingston, John H., Navarro, Vincent, Okenfuss, Ericka, Puel, Anne, Revencu, Nicole, Scholl-Bürgi, Sabine, Vivarelli, Marina, Wouters, Carine, Bader-Meunier, Brigitte, Crow, Yanick J.
Publicado 2016

NBEAL2 deficiency in humans leads to low CTLA-4 expression in activated conventional T cells

por Delage, Laure, Carbone, Francesco, Riller, Quentin, Zachayus, Jean-Luc, Kerbellec, Erwan, Buzy, Armelle, Stolzenberg, Marie-Claude, Luka, Marine, de Cevins, Camille, Kalouche, Georges, Favier, Rémi, Michel, Alizée, Meynier, Sonia, Corneau, Aurélien, Evrard, Caroline, Neveux, Nathalie, Roudières, Sébastien, Pérot, Brieuc P., Fusaro, Mathieu, Lenoir, Christelle, Pellé, Olivier, Parisot, Mélanie, Bras, Marc, Héritier, Sébastien, Leverger, Guy, Korganow, Anne-Sophie, Picard, Capucine, Latour, Sylvain, Collet, Bénédicte, Fischer, Alain, Neven, Bénédicte, Magérus, Aude, Ménager, Mickaël, Pasquier, Benoit, Rieux-Laucat, Frédéric
Publicado 2023

Vemurafenib for Refractory Multisystem Langerhans Cell Histiocytosis in Children: An International Observational Study

por Donadieu, Jean, Larabi, Islam Amine, Tardieu, Mathilde, Visser, Johannes, Hutter, Caroline, Sieni, Elena, Kabbara, Nabil, Barkaoui, Mohamed, Miron, Jean, Chalard, François, Milne, Paul, Haroche, Julien, Cohen, Fleur, Hélias-Rodzewicz, Zofia, Simon, Nicolas, Jehanne, Mathilde, Kolenova, Alexandra, Pagnier, Anne, Aladjidi, Nathalie, Schneider, Pascale, Plat, Geneviève, Lutun, Anne, Sonntagbauer, Anne, Lehrnbecher, Thomas, Ferster, Alina, Efremova, Viktoria, Ahlmann, Martina, Blanc, Laurence, Nicholson, James, Lambilliote, Anne, Boudiaf, Houda, Lissat, Andrej, Svojgr, Karel, Bernard, Fanette, Elitzur, Sarah, Golan, Michal, Evseev, Dmitriy, Maschan, Michael, Idbaih, Ahmed, Slater, Olga, Minkov, Milen, Taly, Valerie, Collin, Matthew, Alvarez, Jean-Claude, Emile, Jean-François, Héritier, Sébastien
Publicado 2019