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1. Somatic RAP1B gain-of-function variant underlies isolated thrombocytopenia and immunodeficiency

Author: Benavides-Nieto, Marta, Adam, Frederic, Martin, Emmanuel, Boussard, Charlotte, Lagresle-Peyrou, Chantal, Callebaut, Isabelle, Kauskot, Alexandre, Reperant, Christelle, Feng, Miao, Bordet, Jean-Claude, Castelle, Martin, Morelle, Guillaume, Brouzes, Chantal, Zarhrate, Mohammed, Panikulam, Patricia, Lambert, Nathalie, Picard, Capucine, Bodet, Damien, Rouger-Gaudichon, Jeremie, Revy, Patrick, de Villartay, Jean- Pierre, and Moshous, Despina
Subjects: Physiological aspects, Complications and side effects, Genetic aspects, Risk factors, Health aspects, Thrombocytopenia -- Physiological aspects -- Genetic aspects -- Risk factors, Immunodeficiency -- Genetic aspects -- Physiological aspects -- Complications and side effects, Medical research, Genetic variation -- Health aspects, GTPases -- Health aspects -- Genetic aspects, Medicine, Experimental, Guanosine triphosphatase -- Health aspects -- Genetic aspects
Abstract: Introduction Thanks to next-generation sequencing (NGS) approaches, the list of genetic syndromes that cause thrombocytopenia has grown in recent years and now includes over 40 genes (1). However, there are [...], The ubiquitously expressed small GTPase Ras-related protein 1B (RAP1B) acts as a molecular switch that regulates cell signaling, cytoskeletal remodeling, and cell trafficking and activates integrins in platelets and lymphocytes. The residue G12 in the P-loop is required for the RAP1B-GTPase conformational switch. Heterozygous germline RAP1B variants have been described in patients with syndromic thrombocytopenia. However, the causality and pathophysiological impact remained unexplored. We report a boy with neonatal thrombocytopenia, combined immunodeficiency, neutropenia, and monocytopenia caused by a heterozygous de novo single nucleotide substitution, c.35G>A (p.G12E) in RAP1B. We demonstrate that G12E and the previously described G12V and G60R were gain-of-function variants that increased RAP1B activation, talin recruitment, and integrin activation, thereby modifying late responses such as platelet activation, T cell proliferation, and migration. We show that in our patient, G12E was a somatic variant whose allele frequency decreased over time in the peripheral immune compartment, but remained stable in bone marrow cells, suggesting a differential effect in distinct cell populations. Allogeneic hematopoietic stem cell transplantation fully restored the patient's hemato-immunological phenotype. Our findings define monoallelic RAP1B gain-of-function variants as a cause for constitutive immunodeficiency and thrombocytopenia. The phenotypic spectrum ranged from isolated hematological manifestations in our patient with somatic mosaicism to complex syndromic features in patients with reported germline RAP1B variants.
Published: 2024
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2. L’annonce en oncologie pédiatrique – retour d’expérience sur les formations par méthode de simulation dans le GOCE (Grand Ouest cancer de l’enfant)

Author: Courtel, Tiphaine, Lefresne, Mathilde, Cartier, Ingrid, Gerasse, Justine, Gislier, Emilie, Proust, Stéphanie, Flambard, Camille, Bodet, Damien, and Pellier, Isabelle
Published: 2024
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3. Neurocognitive and radiological follow-up of children under 5 years of age treated for medulloblastoma according to the HIT-SKK protocol

Author: Merlin, Marie-Sophie, Schmitt, Emmanuelle, Mezloy-Destracque, Malika, Dufour, Christelle, Riffaud, Laurent, Puiseux, Chloé, De Carli, Emilie, Bodet, Damien, Icher, Céline, Doz, François, Faure-Conter, Cécile, Pagnier, Anne, Pluchart, Claire, Thouvenin-Doulet, Sandrine, Lejeune, Julien, Nguyen Thi, Phi-Linh, and Chastagner, Pascal
Published: 2023
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4. Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity

Author: Seidel, Markus G., Seppänen, Mikko R.J., Gennery, Andrew, Kanariou, Maria G., Tantou, Sofia, Grigoriadou, Sofia, Cericola, Gabriella, Hanitsch, Leif G., Scheibenbogen, Carmen, Hlaváčková, Eva O., Krivan, Gergely, McGuire, Frances K., Leahy, Timothy Ronan, Edgar, John David M., Bakhtiar, Shahrzad, Bader, Peter, Rohner, Geraldine Blanchard, Haerynck, Filomeen, Claes, Karlien, Lehmberg, Kai, Müller, Ingo, Farmand, Susan, Fasshauer, Maria, Graf, Dagmar, Neves, Joao Farela, Kostyuchenko, Larysa, Gonzalez-Granado, Luis Ignacio, Jeseňák, Miloš, Carrabba, Maria, Fabio, Giovanna, Pignata, Claudio, Giardino, Giuliana, Karadağ, Ilknur Kökçü, Yıldıran, Alişan, Hancioglu, Gonca, Králíčková, Pavlína, Steinmann, Sandra, Pietrucha, Barbara Maria, Gernert, Michael, Soomann, Maarja, Witte, Torsten, Markocsy, Adam, Wolska-Kusnierz, Beata, Randrianomenjanahary, Philippe, Rouger, Jérémie, Kostaridou, Stavroula, Zabara, Dariia V., Rodina, Yulia A., Shvets, Oksana A., Maccari, Maria Elena, Wolkewitz, Martin, Schwab, Charlotte, Lorenzini, Tiziana, Leiding, Jennifer W., Aladjdi, Nathalie, Abolhassani, Hassan, Abou-Chahla, Wadih, Aiuti, Alessandro, Azarnoush, Saba, Baris, Safa, Barlogis, Vincent, Barzaghi, Federica, Baumann, Ulrich, Bloomfield, Marketa, Bohynikova, Nadezda, Bodet, Damien, Boutboul, David, Bucciol, Giorgia, Buckland, Matthew S., Burns, Siobhan O., Cancrini, Caterina, Cathébras, Pascal, Cavazzana, Marina, Cheminant, Morgane, Chinello, Matteo, Ciznar, Peter, Coulter, Tanya I., D’Aveni, Maud, Ekwall, Olov, Eric, Zelimir, Eren, Efrem, Fasth, Anders, Frange, Pierre, Fournier, Benjamin, Garcia-Prat, Marina, Gardembas, Martine, Geier, Christoph, Ghosh, Sujal, Goda, Vera, Hammarström, Lennart, Hauck, Fabian, Heeg, Maximilian, Heropolitanska-Pliszka, Edyta, Hilfanova, Anna, Jolles, Stephen, Karakoc-Aydiner, Elif, Kindle, Gerhard R., Kiykim, Ayca, Klemann, Christian, Koletsi, Patra, Koltan, Sylwia, Kondratenko, Irina, Körholz, Julia, Krüger, Renate, Jeziorski, Eric, Levy, Romain, Le Guenno, Guillaume, Lefevre, Guillaume, Lougaris, Vassilios, Marzollo, Antonio, Mahlaoui, Nizar, Malphettes, Marion, Meinhardt, Andrea, Merlin, Etienne, Meyts, Isabelle, Milota, Tomas, Moreira, Fernando, Moshous, Despina, Mukhina, Anna, Neth, Olaf, Neubert, Jennifer, Neven, Benedicte, Nieters, Alexandra, Nove-Josserand, Raphaele, Oksenhendler, Eric, Ozen, Ahmet, Olbrich, Peter, Perlat, Antoinette, Pac, Malgorzata, Schmid, Jana Pachlopnik, Pacillo, Lucia, Parra-Martinez, Alba, Paschenko, Olga, Pellier, Isabelle, Sefer, Asena Pinar, Plebani, Alessandro, Plantaz, Dominique, Prader, Seraina, Raffray, Loic, Ritterbusch, Henrike, Riviere, Jacques G., Rivalta, Beatrice, Rusch, Stephan, Sakovich, Inga, Savic, Sinisa, Scheible, Raphael, Schleinitz, Nicolas, Schuetz, Catharina, Schulz, Ansgar, Sediva, Anna, Semeraro, Michaela, Sharapova, Svetlana O., Shcherbina, Anna, Slatter, Mary A., Sogkas, Georgios, Soler-Palacin, Pere, Speckmann, Carsten, Stephan, Jean-Louis, Suarez, Felipe, Tommasini, Alberto, Trück, Johannes, Uhlmann, Annette, van Aerde, Koen J., van Montfrans, Joris, von Bernuth, Horst, Warnatz, Klaus, Williams, Tony, Worth, Austen J.J., Ip, Winnie, Picard, Capucine, Catherinot, Emilie, Nademi, Zohreh, Grimbacher, Bodo, Forbes Satter, Lisa R., Kracker, Sven, Chandra, Anita, Condliffe, Alison M., and Ehl, Stephan
Published: 2023
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5. An appraisal of the frequency and severity of noninfectious manifestations in primary immunodeficiencies: A study of a national retrospective cohort of 1375 patients over 10 years

Author: Abou-Chahla, Wadih, Adoue, Daniel, Aladjidi, Nathalie, Armari-Alla, Corinne, Barlogis, Vincent, Bayart, Sophie, Bertrand, Yves, Blanche, Stéphane, Bodet, Damien, Bonnotte, Bernard, Borie, Raphaël, Boutard, Patrick, Boutboul, David, Briandet, Claire, Brion, Jean-Paul, Brouard, Jacques, Carausu, Liana, Castelle, Martin, Cathebras, Pascal, Catherinot, Emilie, Cheikh, Nathalie, Cheminant, Morgane, Cohen-Beaussant, Sarah, Comont, Thibault, Couderc, Louis-Jean, Cougoul, Pierre, Couillault, Gérard, Crevon, Lionel, Demonchy, Elisa, Deville, Anne, Devoldere, Catherine, Dore, Eric, Dulieu, Fabienne, Durieu, Isabelle, Entz-Werle, Natacha, Fieschi, Claire, Fouyssac, Fanny, Frange, Pierre, Gajdos, Vincent, Galicier, Lionel, Gandemer, Virginie, Gardembas, Martine, Gaud, Catherine, Grosbois, Bernard, Guffroy, Aurélien, Guitton, Corinne, Guillerm, Gaëlle, Hachulla, Eric, Hamidou, Mohamed, Haro, Sophie, Hatchuel, Yves, Hermine, Olivier, Hoarau, Cyrille, Hot, Arnaud, Humbert, Sébastien, Jaccard, Arnaud, Jais, Jean-Philippe, Jannier, Sarah, Jacquot, Serge, Jaussaud, Roland, Jeandel, Pierre-Yves, Jeziorski, Eric, Kebaili, Kamila, Korganow, Anne-Sophie, Lambotte, Olivier, Lanternier, Fanny, Larroche, Claire, Launay, David, Le Moigne, Emmanuelle, Le Quellec, Alain, Le Moing, Vincent, Lebranchu, Yvon, Lecuit, Marc, Lefèvre, Guillaume, Lelièvre, Jean-Daniel, Lemal, Richard, Li-Thiao-Te, Valérie, Lortholary, Olivier, Luca, Luminita, Mallebranche, Coralie, Malphettes, Marion, Marie-Cardine, Aude, Martin-Silva, Nicolas, Masseau, Agathe, Mazingue, Françoise, Merlin, Etienne, Michel, Gérard, Millot, Frédéric, Miot, Charline, Monlibert, Béatrice, Monpoux, Fabrice, Moshous, Despina, Mouthon, Luc, Münzer, Martine, Navarro, Robert, Neven, Bénédicte, Nouar, Dalila, Nove-Josserand, Raphaële, Oksenhendler, Eric, Ouachée-Chardin, Marie, Pagnier, Anne, Pasquet, Marlène, Pellier, Isabelle, Perel, Yves, Perlat, Antoinette, Piguet, Christophe, Plantaz, Dominique, Rivière, Sophie, Roblot, Pascal, Rohrlich, Pierre-Simon, Royer, Bruno, Salle, Valéry, Sarrot-Reynauld, Françoise, Servettaz, Amélie, Stephan, Jean-Louis, Schleinitz, Nicolas, Sokol, Harry, Suarez, Felipe, Swiader, Laure, Taque, Sophie, Thomas, Caroline, Tournilhac, Olivier, Thumerelle, Caroline, Vannier, Jean-Pierre, Viallard, Jean-François, Alligon, Mickaël, Mahlaoui, Nizar, Courteille, Virginie, Costes, Laurence, Afonso, Veronica, Randrianomenjanahary, Philippe, de Vergnes, Nathalie, Ranohavimparany, Anja, Vo, Duy, Hafsa, Inès, Bach, Perrine, Benoit, Vincent, Garcelon, Nicolas, and Fischer, Alain
Published: 2022
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6. Medulloblastomas with ELP1 pathogenic variants: a weakly penetrant syndrome with a restricted spectrum in a limited age window

Author: Guerrini-Rousseau, Léa, primary, Masliah-Planchon, Julien, additional, Filser, Mathilde, additional, Tauziede-Espariat, Arnault, additional, Entz-Werle, Natacha, additional, Maugard, Christine, additional, Hopman, Saskia, additional, Torrejon, Jacob, additional, Gauthier-Villars, Marion, additional, Simaga, Fatoumata, additional, Blauwblomme, Thomas, additional, Beccaria, Kevin, additional, Rouleau, Etienne, additional, Dimaria, Marina, additional, Grill, Jacques, additional, Abbou, Samuel, additional, Claret, Béatrice, additional, Brugières, Laurence, additional, Doz, François, additional, Bouchoucha, Yassine, additional, Faure-Conter, Cécile, additional, Bonadona, Valerie, additional, Mansuy, Ludovic, additional, de Carli, Emilie, additional, Ingster, Olivier, additional, Legrand, Clémentine, additional, Pagnier, Anne, additional, Berthet, Pascaline, additional, Bodet, Damien, additional, Julia, Sophie, additional, Bertozzi, Anne-Isabelle, additional, Wilems, Marjolaine, additional, Maurage, Claude-Alain, additional, Delattre, Olivier, additional, Ayrault, Olivier, additional, Dufour, Christelle, additional, and Bourdeaut, Franck, additional
Published: 2024
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7. Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS‐positive variant patients.

Author: Bessis, Didier, Bursztejn, Anne‐Claire, Morice‐Picard, Fanny, Capri, Yline, Barbarot, Sébastien, Aubert, Hélène, Bodet, Damien, Bourrat, Emmanuelle, Chiaverini, Christine, Poujade, Laura, Willems, Marjolaine, Rouanet, Jacques, Dompmartin‐Blanchère, Anne, Geneviève, David, Gerard, Marion, Ginglinger, Emmanuelle, Hadj‐Rabia, Smaïl, Martin, Ludovic, Mazereeuw‐Hautier, Juliette, and Bibas, Nathalie
Subjects: NOONAN syndrome, RESEARCH personnel, EYEBROWS, HAIR, LONGITUDINAL method
Abstract: Background: Data on dermatological manifestations of Costello syndrome (CS) remain heterogeneous and lack in validated description. Objectives: To describe the dermatological manifestations of CS; compare them with the literature findings; assess those discriminating CS from other RASopathies, including cardiofaciocutaneous syndrome (CFCS) and the main types of Noonan syndrome (NS); and test for dermatological phenotype–genotype correlations. Methods: We performed a 10‐year, large, prospective, multicentric, collaborative dermatological and genetic study. Results: Thirty‐one patients were enrolled. Hair abnormalities were ubiquitous, including wavy or curly hair and excessive eyebrows, respectively in 68% and 56%. Acral excessive skin (AES), papillomas and keratotic papules (PKP), acanthosis nigricans (AN), palmoplantar hyperkeratosis (PPHK) and 'cobblestone' papillomatous papules of the upper lip (CPPUL), were noted respectively in 84%, 61%, 65%, 55% and 32%. Excessive eyebrows, PKP, AN, CCPUL and AES best differentiated CS from CFCS and NS. Multiple melanocytic naevi (>50) may constitute a new marker of attenuated CS associated with intragenic duplication in HRAS. Oral acitretin may be highly beneficial for therapeutic management of PPHK. No significant dermatological phenotype–genotype correlation was determined between patients with and without HRAS c.34G>A (p.G12S). Conclusions and Relevance: This validated phenotypic characterization of a large number of patients with CS will allow future researchers to make a positive diagnosis, and to differentiate CS from CFCS and NS. [ABSTRACT FROM AUTHOR]
Published: 2024
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8. Medulloblastomas with ELP1 pathogenic variants: A weakly penetrant syndrome with a restricted spectrum in a limited age window

Author: Genetica, Genetica Oper.Mang. Clinical Genetics, Guerrini-Rousseau, Léa, Masliah-Planchon, Julien, Filser, Mathilde, Tauziède-Espariat, Arnault, Entz-Werle, Natacha, Maugard, Christine M., Hopman, Saskia M.J., Torrejon, Jacob, Gauthier-Villars, Marion, Simaga, Fatoumata, Blauwblomme, Thomas, Beccaria, Kevin, Rouleau, Etienne, Dimaria, Marina, Grill, Jacques, Abbou, Samuel, Claret, Béatrice, Brugières, Laurence, Doz, François, Bouchoucha, Yassine, Faure-Conter, Cécile, Bonadona, Valerie, Mansuy, Ludovic, De Carli, Emilie, Ingster, Olivier, Legrand, Clémentine, Pagnier, Anne, Berthet, Pascaline, Bodet, Damien, Julia, Sophie, Bertozzi, Anne Isabelle, Wilems, Marjolaine, Maurage, Claude Alain, Delattre, Olivier, Ayrault, Olivier, Dufour, Christelle, Bourdeaut, Franck, Genetica, Genetica Oper.Mang. Clinical Genetics, Guerrini-Rousseau, Léa, Masliah-Planchon, Julien, Filser, Mathilde, Tauziède-Espariat, Arnault, Entz-Werle, Natacha, Maugard, Christine M., Hopman, Saskia M.J., Torrejon, Jacob, Gauthier-Villars, Marion, Simaga, Fatoumata, Blauwblomme, Thomas, Beccaria, Kevin, Rouleau, Etienne, Dimaria, Marina, Grill, Jacques, Abbou, Samuel, Claret, Béatrice, Brugières, Laurence, Doz, François, Bouchoucha, Yassine, Faure-Conter, Cécile, Bonadona, Valerie, Mansuy, Ludovic, De Carli, Emilie, Ingster, Olivier, Legrand, Clémentine, Pagnier, Anne, Berthet, Pascaline, Bodet, Damien, Julia, Sophie, Bertozzi, Anne Isabelle, Wilems, Marjolaine, Maurage, Claude Alain, Delattre, Olivier, Ayrault, Olivier, Dufour, Christelle, and Bourdeaut, Franck
Published: 2024

9. IMPACT de la déprivation sociale sur les difficultés psychosociales au décours d’un cancer pédiatrique : une étude prospective

Author: Delehaye, Fanny, primary, Dejardin, Olivier, additional, Pellier, Isabelle, additional, Launay, Ludivine, additional, Esvan, Maxime, additional, Bodet, Damien, additional, Carausu, Liana, additional, Lejeune, Julien, additional, Millot, Frédéric, additional, Thomas, Caroline, additional, Gandemer, Virginie, additional, Alves, Arnaud, additional, and Rod, Julien, additional
Published: 2024
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10. IMPACT of the Social Deprivation on Psychosocial Difficulties of Pediatric Cancer Survivors: A Prospective Study.

Author: Delehaye, Fanny, Dejardin, Olivier, Pellier, Isabelle, Launay, Ludivine, Esvan, Maxime, Bodet, Damien, Carausu, Liana, Lejeune, Julien, Millot, Frédéric, Thomas, Caroline, Gandemer, Virginie, Alves, Arnaud, and Rod, Julien
Subjects: SCHOOL environment, HEMATOPOIETIC stem cell transplantation, TUMORS in children, INDEPENDENT living, CANCER relapse, REHABILITATION, INTERVIEWING, LOGISTIC regression analysis, DESCRIPTIVE statistics, MULTIVARIATE analysis, CHI-squared test, LONGITUDINAL method, CENTRAL nervous system tumors, KAPLAN-Meier estimator, CANCER chemotherapy, RESEARCH, CANCER patient psychology, DATA analysis software, CONFIDENCE intervals, SOCIAL isolation, PSYCHOLOGY of the sick, SOCIAL classes, LEARNING disabilities, POVERTY, DISEASE risk factors, DISEASE complications
Abstract: Copyright of Psycho-Oncologie is the property of PiscoMed Publishing and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Published: 2024
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11. Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies

Author: Adoue, Daniel, Aladjidi, Nathalie, Amoura, Zahir, Arlet, Philippe, Armari-Alla, Corinne, Bader-Meunier, Brigitte, Barlogis, Vincent, Bayart, Sophie, Beaurain, Beatrice, Bertrand, Yves, Bienvenu, Boris, Blanche, Stéphane, Bodet, Damien, Bonnotte, Bernard, Borie, Raphaël, Boutard, Patrick, Briandet, Claire, Brion, Jean-Paul, Brito, Carolina, Brouard, Jacques, Catherinot, Emilie, Chandesris, Olivia, Cohen-Beaussant, Sarah, Coignard-Biehler, Hélène, Costes, Laurence, Couderc, Louis-Jean, Couillault, Gérard, Courteille, Virginie, Curlier, Elodie, de Saint Basile, Geneviève, Demeocq, François, de Vergnes, Nathalie, Devoldere, Catherine, Deville, Anne, Donadieu, Jean, Dore, Eric, Dulieu, Fabienne, Durieu, Isabelle, Edan, Christine, Entz Werle, Natacha, Fieschi, Claire, Fouyssac, Fanny, Frange, Pierre, Gajdos, Vincent, Galicier, Lionel, Gandemer, Virginie, Gardembas, Martine, Gaud, Catherine, Grosbois, Bernard, Guillerm, Gaelle, Hachulla, Eric, Hamidou, Mohamed, Héritier, Sébastien, Hermine, Olivier, Hoarau, Cyrille, Hoen, Bruno, Hot, Arnaud, Humbert, Sébastien, Jaccard, Arnaud, Jacquot, Serge, Jais, Jean-Philippe, Jaussaud, Rolland, Jeandel, Pierre-Yves, Jeziorski, Eric, Kebaili, Kamila, Korganow, Anne-Sophie, Labrune, Philippe, Lambotte, Olivier, Lanternier, Fanny, Larroche, Claire, Le Quellec, Alain, Le Moigne, Emmanuelle, Le Moing, Vincent, Lebranchu, Yvon, Lecuit, Marc, Lefevre, Guillaume, Lemal, Richard, Le Moine, Philippe, Li Thiao Te, Valérie, Lortholary, Olivier, Lutz, Patrick, Magerus-Chatinet, Aude, Malphettes, Marion, Marie-Cardine, Aude, Martin Silva, Nicolas, Masseau, Agathe, Massot, Christian, Mazingue, Françoise, Merlin, Etienne, Michel, Gérard, Millot, Frédéric, Minckes, Odile, Monlibert, Béatrice, Monpoux, Fabrice, Moshous, Despina, Mouthon, Luc, Munzer, Martine, Neven, Bénédicte, Nove-Josserand, Raphaëlle, Oksenhendler, Eric, Ouachée-Chardin, Marie, Pagnier, Anne, Pasquali, Jean-Louis, Pasquet, Marlène, Pellier, Isabelle, Perel, Yves, Perlat, Antoinette, Picard, Capucine, Piguet, Christophe, Plantaz, Dominique, Quartier, Pierre, Rieux-Laucat, Frédéric, Roblot, Pascal, Roger, Pierre-Marie, Rohrlich, Pierre-Simon, Royer, Bruno, Salle, Valéry, Sarrot-Reynauld, Françoise, Servettaz, Amélie, Stephan, Jean-Louis, Schleinitz, Nicolas, Suarez, Felipe, Swiader, Laure, Taque, Sophie, Thomas, Caroline, Tournilhac, Olivier, Thumerelle, Caroline, Vannier, Jean-Pierre, Viallard, Jean-François, Fischer, Alain, Provot, Johan, Alcais, Alexandre, and Mahlaoui, Nizar
Published: 2017
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12. Measuring Safety and Outcomes for the Use of Compassionate and Off-Label Therapies for Children, Adolescents, and Young Adults With Cancer in the SACHA-France Study

Author: Berlanga, Pablo, primary, Ndounga-Diakou, Lee Aymar, additional, Aerts, Isabelle, additional, Corradini, Nadège, additional, Ducassou, Stéphane, additional, Strullu, Marion, additional, de Carli, Emilie, additional, André, Nicolas, additional, Entz-Werle, Natacha, additional, Raimbault, Sandra, additional, Roumy, Marianne, additional, Renouard, Marjolaine, additional, Gueguen, Gwenaelle, additional, Plantaz, Dominique, additional, Reguerre, Yves, additional, Cleirec, Morgane, additional, Petit, Arnaud, additional, Puiseux, Chloe, additional, Andry, Leslie, additional, Klein, Sébastien, additional, Bodet, Damien, additional, Kanold, Justyna, additional, Briandet, Claire, additional, Halfon-Domenech, Carine, additional, Nelken, Brigitte, additional, Piguet, Christophe, additional, Saumet, Laure, additional, Chastagner, Pascal, additional, Benadiba, Joy, additional, Millot, Frédéric, additional, Pluchart, Claire, additional, Schneider, Pascale, additional, Thouvenin, Sandrine, additional, Gambart, Marion, additional, Serre, Jill, additional, Abbou, Samuel, additional, Leruste, Amaury, additional, Cayzac, Hélena, additional, Gandemer, Virginie, additional, Laghouati, Salim, additional, and Vassal, Gilles, additional
Published: 2023
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13. Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity

Author: Maccari, Maria Elena, primary, Wolkewitz, Martin, additional, Schwab, Charlotte, additional, Lorenzini, Tiziana, additional, Leiding, Jennifer W., additional, Aladjdi, Nathalie, additional, Abolhassani, Hassan, additional, Abou-Chahla, Wadih, additional, Aiuti, Alessandro, additional, Azarnoush, Saba, additional, Baris, Safa, additional, Barlogis, Vincent, additional, Barzaghi, Federica, additional, Baumann, Ulrich, additional, Bloomfield, Marketa, additional, Bohynikova, Nadezda, additional, Bodet, Damien, additional, Boutboul, David, additional, Bucciol, Giorgia, additional, Buckland, Matthew S., additional, Burns, Siobhan O., additional, Cancrini, Caterina, additional, Cathébras, Pascal, additional, Cavazzana, Marina, additional, Cheminant, Morgane, additional, Chinello, Matteo, additional, Ciznar, Peter, additional, Coulter, Tanya I., additional, D’Aveni, Maud, additional, Ekwall, Olov, additional, Eric, Zelimir, additional, Eren, Efrem, additional, Fasth, Anders, additional, Frange, Pierre, additional, Fournier, Benjamin, additional, Garcia-Prat, Marina, additional, Gardembas, Martine, additional, Geier, Christoph, additional, Ghosh, Sujal, additional, Goda, Vera, additional, Hammarström, Lennart, additional, Hauck, Fabian, additional, Heeg, Maximilian, additional, Heropolitanska-Pliszka, Edyta, additional, Hilfanova, Anna, additional, Jolles, Stephen, additional, Karakoc-Aydiner, Elif, additional, Kindle, Gerhard R., additional, Kiykim, Ayca, additional, Klemann, Christian, additional, Koletsi, Patra, additional, Koltan, Sylwia, additional, Kondratenko, Irina, additional, Körholz, Julia, additional, Krüger, Renate, additional, Jeziorski, Eric, additional, Levy, Romain, additional, Le Guenno, Guillaume, additional, Lefevre, Guillaume, additional, Lougaris, Vassilios, additional, Marzollo, Antonio, additional, Mahlaoui, Nizar, additional, Malphettes, Marion, additional, Meinhardt, Andrea, additional, Merlin, Etienne, additional, Meyts, Isabelle, additional, Milota, Tomas, additional, Moreira, Fernando, additional, Moshous, Despina, additional, Mukhina, Anna, additional, Neth, Olaf, additional, Neubert, Jennifer, additional, Neven, Benedicte, additional, Nieters, Alexandra, additional, Nove-Josserand, Raphaele, additional, Oksenhendler, Eric, additional, Ozen, Ahmet, additional, Olbrich, Peter, additional, Perlat, Antoinette, additional, Pac, Malgorzata, additional, Schmid, Jana Pachlopnik, additional, Pacillo, Lucia, additional, Parra-Martinez, Alba, additional, Paschenko, Olga, additional, Pellier, Isabelle, additional, Sefer, Asena Pinar, additional, Plebani, Alessandro, additional, Plantaz, Dominique, additional, Prader, Seraina, additional, Raffray, Loic, additional, Ritterbusch, Henrike, additional, Riviere, Jacques G., additional, Rivalta, Beatrice, additional, Rusch, Stephan, additional, Sakovich, Inga, additional, Savic, Sinisa, additional, Scheible, Raphael, additional, Schleinitz, Nicolas, additional, Schuetz, Catharina, additional, Schulz, Ansgar, additional, Sediva, Anna, additional, Semeraro, Michaela, additional, Sharapova, Svetlana O., additional, Shcherbina, Anna, additional, Slatter, Mary A., additional, Sogkas, Georgios, additional, Soler-Palacin, Pere, additional, Speckmann, Carsten, additional, Stephan, Jean-Louis, additional, Suarez, Felipe, additional, Tommasini, Alberto, additional, Trück, Johannes, additional, Uhlmann, Annette, additional, van Aerde, Koen J., additional, van Montfrans, Joris, additional, von Bernuth, Horst, additional, Warnatz, Klaus, additional, Williams, Tony, additional, Worth, Austen J.J., additional, Ip, Winnie, additional, Picard, Capucine, additional, Catherinot, Emilie, additional, Nademi, Zohreh, additional, Grimbacher, Bodo, additional, Forbes Satter, Lisa R., additional, Kracker, Sven, additional, Chandra, Anita, additional, Condliffe, Alison M., additional, Ehl, Stephan, additional, Seidel, Markus G., additional, Seppänen, Mikko R.J., additional, Gennery, Andrew, additional, Kanariou, Maria G., additional, Tantou, Sofia, additional, Grigoriadou, Sofia, additional, Cericola, Gabriella, additional, Hanitsch, Leif G., additional, Scheibenbogen, Carmen, additional, Hlaváčková, Eva O., additional, Krivan, Gergely, additional, McGuire, Frances K., additional, Leahy, Timothy Ronan, additional, Edgar, John David M., additional, Bakhtiar, Shahrzad, additional, Bader, Peter, additional, Rohner, Geraldine Blanchard, additional, Haerynck, Filomeen, additional, Claes, Karlien, additional, Lehmberg, Kai, additional, Müller, Ingo, additional, Farmand, Susan, additional, Fasshauer, Maria, additional, Graf, Dagmar, additional, Neves, Joao Farela, additional, Kostyuchenko, Larysa, additional, Gonzalez-Granado, Luis Ignacio, additional, Jeseňák, Miloš, additional, Carrabba, Maria, additional, Fabio, Giovanna, additional, Pignata, Claudio, additional, Giardino, Giuliana, additional, Karadağ, Ilknur Kökçü, additional, Yıldıran, Alişan, additional, Hancioglu, Gonca, additional, Králíčková, Pavlína, additional, Steinmann, Sandra, additional, Pietrucha, Barbara Maria, additional, Gernert, Michael, additional, Soomann, Maarja, additional, Witte, Torsten, additional, Markocsy, Adam, additional, Wolska-Kusnierz, Beata, additional, Randrianomenjanahary, Philippe, additional, Rouger, Jérémie, additional, Kostaridou, Stavroula, additional, Zabara, Dariia V., additional, Rodina, Yulia A., additional, and Shvets, Oksana A., additional
Published: 2023
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14. Activated Phosphoinositide 3-Kinase δ Syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity

Author: Maccari, Maria Elena, Wolkewitz, Martin, Schwab, Charlotte, Lorenzini, Tiziana, Leiding, Jennifer W, Aladjdi, Nathalie, Abolhassani, Hassan, Abou-Chahla, Wadih, Aiuti, Alessandro, Azarnoush, Saba, Baris, Safa, Barlogis, Vincent, Barzaghi, Federica, Baumann, Ulrich, Bloomfield, Marketa, Bohynikova, Nadezda, Bodet, Damien, Boutboul, David, Bucciol, Giorgia, Buckland, Matthew S, Burns, Siobhan O, Cancrini, Caterina, Cathébras, Pascal, Cavazzana, Marina, Cheminant, Morgane, Chinello, Matteo, Ciznar, Peter, Coulter, Tanya I, D’Aveni, Maud, Ekwall, Olov, et al, Pachlopnik Schmid, Jana, Prader, Seraina, and University of Zurich
Subjects: 10036 Medical Clinic, Immunology, Immunology and Allergy, 610 Medicine & health
Published: 2023

15. Supplementary Table from Immune Infiltrate and Tumor Microenvironment Transcriptional Programs Stratify Pediatric Osteosarcoma into Prognostic Groups at Diagnosis

Author: Marchais, Antonin, primary, Marques da Costa, Maria Eugenia, primary, Job, Bastien, primary, Abbas, Rachid, primary, Drubay, Damien, primary, Piperno-Neumann, Sophie, primary, Fromigué, Olivia, primary, Gomez-Brouchet, Anne, primary, Redini, Françoise, primary, Droit, Robin, primary, Lervat, Cyril, primary, Entz-Werle, Natacha, primary, Pacquement, Hélène, primary, Devoldere, Catherine, primary, Cupissol, Didier, primary, Bodet, Damien, primary, Gandemer, Virginie, primary, Berger, Marc, primary, Marec-Berard, Perrine, primary, Jimenez, Marta, primary, Vassal, Gilles, primary, Geoerger, Birgit, primary, Brugières, Laurence, primary, and Gaspar, Nathalie, primary
Published: 2023
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16. Data from Immune Infiltrate and Tumor Microenvironment Transcriptional Programs Stratify Pediatric Osteosarcoma into Prognostic Groups at Diagnosis

Author: Marchais, Antonin, primary, Marques da Costa, Maria Eugenia, primary, Job, Bastien, primary, Abbas, Rachid, primary, Drubay, Damien, primary, Piperno-Neumann, Sophie, primary, Fromigué, Olivia, primary, Gomez-Brouchet, Anne, primary, Redini, Françoise, primary, Droit, Robin, primary, Lervat, Cyril, primary, Entz-Werle, Natacha, primary, Pacquement, Hélène, primary, Devoldere, Catherine, primary, Cupissol, Didier, primary, Bodet, Damien, primary, Gandemer, Virginie, primary, Berger, Marc, primary, Marec-Berard, Perrine, primary, Jimenez, Marta, primary, Vassal, Gilles, primary, Geoerger, Birgit, primary, Brugières, Laurence, primary, and Gaspar, Nathalie, primary
Published: 2023
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17. Supplementary Figure from Immune Infiltrate and Tumor Microenvironment Transcriptional Programs Stratify Pediatric Osteosarcoma into Prognostic Groups at Diagnosis

Author: Marchais, Antonin, primary, Marques da Costa, Maria Eugenia, primary, Job, Bastien, primary, Abbas, Rachid, primary, Drubay, Damien, primary, Piperno-Neumann, Sophie, primary, Fromigué, Olivia, primary, Gomez-Brouchet, Anne, primary, Redini, Françoise, primary, Droit, Robin, primary, Lervat, Cyril, primary, Entz-Werle, Natacha, primary, Pacquement, Hélène, primary, Devoldere, Catherine, primary, Cupissol, Didier, primary, Bodet, Damien, primary, Gandemer, Virginie, primary, Berger, Marc, primary, Marec-Berard, Perrine, primary, Jimenez, Marta, primary, Vassal, Gilles, primary, Geoerger, Birgit, primary, Brugières, Laurence, primary, and Gaspar, Nathalie, primary
Published: 2023
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18. Molecular and clinicopathologic characterization of pediatric histiocytoses

Author: HELIAS-RODZEWICZ, Z, DONADIEU, Jean, TERRONES, Nathalie, BARKAOUI, Mohamed-Aziz, LAMBILLIOTTE, ANNE, MOSHOUS, DESPINA, Thomas, Caroline, AZAMOUSH, SABA, PASQUET, MARLENE, MANSUY, LUDOVIC, ALADJIDI, NATHALIE, JEZIORSKI, ERIC, MAREC-BERARDF, PERRINE, GILIBERT-YVET, MARION, SPIEGEL, ALEXANDRA, SAULTIER, PAUL, PELLIER, ISABELLE, PAGNIER, ANNE, PERTUISEL, SOPHIE, POIREE, MARYLINE, BODET, DAMIEN, MILLOT, FREDERIC, IFSAN, FLORENTINA, STEPHANN, JEAN-LOUIS, LERUSTRE, AMAURY, RIGAUD, CHARLOTTE, FILHON, BRUNO, CARAUSU, LIANA, REGUERRE, YVES, KIEFFER, ISABELLE, Brichard, Bénédicte, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, and UCL - (SLuc) Service d'hématologie et d'oncologie pédiatrique
Abstract: Molecular and clinicopathologic characterization of pediatric histiocytoses.
Published: 2023

19. Unusual recurrence of sacrococcygeal mature teratoma: A case report

Author: Fanny Delehaye, Bodet Damien, Dompmartin Anne, Bazille Céline, Apetrei Andreea, Petit Thierry, and Julien Rod
Subjects: Oncology, Pediatrics, Perinatology and Child Health, Hematology
Published: 2022

20. MEDB-13. Neurocognitive and radiological follow-up of children under 5 years of age treated for medulloblastoma according to the HIT-SKK protocol

Author: Merlin, Marie-Sophie, primary, Schmitt, Emmanuelle, additional, Mezloy-Destracque, Malika, additional, Dufour, Christelle, additional, Riffaud, Laurent, additional, Puiseux, Chloé, additional, De Carli, Emilie, additional, Bodet, Damien, additional, Icher, Céline, additional, Doz, François, additional, Faure-Conter, Cécile, additional, Pagnier, Anne, additional, Pluchart, Claire, additional, Thouvenin-Doulet, Sandrine, additional, Lejeune, Julien, additional, Thi-Lambert, Phi-Linh Nguyen, additional, and Chastagner, Pascal, additional
Published: 2022
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21. An appraisal of the frequency and severity of noninfectious manifestations in primary immunodeficiencies: A study of a national retrospective cohort of 1375 patients over 10 years

Author: Alligon, Mickaël, primary, Mahlaoui, Nizar, additional, Courteille, Virginie, additional, Costes, Laurence, additional, Afonso, Veronica, additional, Randrianomenjanahary, Philippe, additional, de Vergnes, Nathalie, additional, Ranohavimparany, Anja, additional, Vo, Duy, additional, Hafsa, Inès, additional, Bach, Perrine, additional, Benoit, Vincent, additional, Garcelon, Nicolas, additional, Fischer, Alain, additional, Abou-Chahla, Wadih, additional, Adoue, Daniel, additional, Aladjidi, Nathalie, additional, Armari-Alla, Corinne, additional, Barlogis, Vincent, additional, Bayart, Sophie, additional, Bertrand, Yves, additional, Blanche, Stéphane, additional, Bodet, Damien, additional, Bonnotte, Bernard, additional, Borie, Raphaël, additional, Boutard, Patrick, additional, Boutboul, David, additional, Briandet, Claire, additional, Brion, Jean-Paul, additional, Brouard, Jacques, additional, Carausu, Liana, additional, Castelle, Martin, additional, Cathebras, Pascal, additional, Catherinot, Emilie, additional, Cheikh, Nathalie, additional, Cheminant, Morgane, additional, Cohen-Beaussant, Sarah, additional, Comont, Thibault, additional, Couderc, Louis-Jean, additional, Cougoul, Pierre, additional, Couillault, Gérard, additional, Crevon, Lionel, additional, Demonchy, Elisa, additional, Deville, Anne, additional, Devoldere, Catherine, additional, Dore, Eric, additional, Dulieu, Fabienne, additional, Durieu, Isabelle, additional, Entz-Werle, Natacha, additional, Fieschi, Claire, additional, Fouyssac, Fanny, additional, Frange, Pierre, additional, Gajdos, Vincent, additional, Galicier, Lionel, additional, Gandemer, Virginie, additional, Gardembas, Martine, additional, Gaud, Catherine, additional, Grosbois, Bernard, additional, Guffroy, Aurélien, additional, Guitton, Corinne, additional, Guillerm, Gaëlle, additional, Hachulla, Eric, additional, Hamidou, Mohamed, additional, Haro, Sophie, additional, Hatchuel, Yves, additional, Hermine, Olivier, additional, Hoarau, Cyrille, additional, Hot, Arnaud, additional, Humbert, Sébastien, additional, Jaccard, Arnaud, additional, Jais, Jean-Philippe, additional, Jannier, Sarah, additional, Jacquot, Serge, additional, Jaussaud, Roland, additional, Jeandel, Pierre-Yves, additional, Jeziorski, Eric, additional, Kebaili, Kamila, additional, Korganow, Anne-Sophie, additional, Lambotte, Olivier, additional, Lanternier, Fanny, additional, Larroche, Claire, additional, Launay, David, additional, Le Moigne, Emmanuelle, additional, Le Quellec, Alain, additional, Le Moing, Vincent, additional, Lebranchu, Yvon, additional, Lecuit, Marc, additional, Lefèvre, Guillaume, additional, Lelièvre, Jean-Daniel, additional, Lemal, Richard, additional, Li-Thiao-Te, Valérie, additional, Lortholary, Olivier, additional, Luca, Luminita, additional, Mallebranche, Coralie, additional, Malphettes, Marion, additional, Marie-Cardine, Aude, additional, Martin-Silva, Nicolas, additional, Masseau, Agathe, additional, Mazingue, Françoise, additional, Merlin, Etienne, additional, Michel, Gérard, additional, Millot, Frédéric, additional, Miot, Charline, additional, Monlibert, Béatrice, additional, Monpoux, Fabrice, additional, Moshous, Despina, additional, Mouthon, Luc, additional, Münzer, Martine, additional, Navarro, Robert, additional, Neven, Bénédicte, additional, Nouar, Dalila, additional, Nove-Josserand, Raphaële, additional, Oksenhendler, Eric, additional, Ouachée-Chardin, Marie, additional, Pagnier, Anne, additional, Pasquet, Marlène, additional, Pellier, Isabelle, additional, Perel, Yves, additional, Perlat, Antoinette, additional, Piguet, Christophe, additional, Plantaz, Dominique, additional, Rivière, Sophie, additional, Roblot, Pascal, additional, Rohrlich, Pierre-Simon, additional, Royer, Bruno, additional, Salle, Valéry, additional, Sarrot-Reynauld, Françoise, additional, Servettaz, Amélie, additional, Stephan, Jean-Louis, additional, Schleinitz, Nicolas, additional, Sokol, Harry, additional, Suarez, Felipe, additional, Swiader, Laure, additional, Taque, Sophie, additional, Thomas, Caroline, additional, Tournilhac, Olivier, additional, Thumerelle, Caroline, additional, Vannier, Jean-Pierre, additional, and Viallard, Jean-François, additional
Published: 2022
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22. Immune Infiltrate and Tumor Microenvironment Transcriptional Programs Stratify Pediatric Osteosarcoma into Prognostic Groups at Diagnosis

Author: Marchais, Antonin, primary, Marques da Costa, Maria Eugenia, additional, Job, Bastien, additional, Abbas, Rachid, additional, Drubay, Damien, additional, Piperno-Neumann, Sophie, additional, Fromigué, Olivia, additional, Gomez-Brouchet, Anne, additional, Redini, Françoise, additional, Droit, Robin, additional, Lervat, Cyril, additional, Entz-Werle, Natacha, additional, Pacquement, Hélène, additional, Devoldere, Catherine, additional, Cupissol, Didier, additional, Bodet, Damien, additional, Gandemer, Virginie, additional, Berger, Marc, additional, Marec-Berard, Perrine, additional, Jimenez, Marta, additional, Vassal, Gilles, additional, Geoerger, Birgit, additional, Brugières, Laurence, additional, and Gaspar, Nathalie, additional
Published: 2022
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23. Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies

Author: Fischer, Alain, Provot, Johan, Jais, Jean-Philippe, Alcais, Alexandre, Mahlaoui, Nizar, Adoue, Daniel, Aladjidi, Nathalie, Amoura, Zahir, Arlet, Philippe, Armari-Alla, Corinne, Bader-Meunier, Brigitte, Barlogis, Vincent, Bayart, Sophie, Beaurain, Beatrice, Bertrand, Yves, Bienvenu, Boris, Blanche, Stéphane, Bodet, Damien, Bonnotte, Bernard, Borie, Raphaël, Boutard, Patrick, Briandet, Claire, Brion, Jean-Paul, Brito, Carolina, Brouard, Jacques, Catherinot, Emilie, Chandesris, Olivia, Cohen-Beaussant, Sarah, Coignard-Biehler, Hélène, Costes, Laurence, Couderc, Louis-Jean, Couillault, Gérard, Courteille, Virginie, Curlier, Elodie, de Saint Basile, Geneviève, Demeocq, François, de Vergnes, Nathalie, Devoldere, Catherine, Deville, Anne, Donadieu, Jean, Dore, Eric, Dulieu, Fabienne, Durieu, Isabelle, Edan, Christine, Werle, Natacha Entz, Fieschi, Claire, Fouyssac, Fanny, Frange, Pierre, Gajdos, Vincent, Galicier, Lionel, Gandemer, Virginie, Gardembas, Martine, Gaud, Catherine, Grosbois, Bernard, Guillerm, Gaelle, Hachulla, Eric, Hamidou, Mohamed, Héritier, Sébastien, Hermine, Olivier, Hoarau, Cyrille, Hoen, Bruno, Hot, Arnaud, Humbert, Sébastien, Jaccard, Arnaud, Jacquot, Serge, Jaussaud, Rolland, Jeandel, Pierre-Yves, Jeziorski, Eric, Kebaili, Kamila, Korganow, Anne-Sophie, Labrune, Philippe, Lambotte, Olivier, Lanternier, Fanny, Larroche, Claire, Le Quellec, Alain, Le Moigne, Emmanuelle, Le Moing, Vincent, Lebranchu, Yvon, Lecuit, Marc, Lefevre, Guillaume, Lemal, Richard, Le Moine, Philippe, Li Thiao Te, Valérie, Lortholary, Olivier, Lutz, Patrick, Magerus-Chatinet, Aude, Malphettes, Marion, Marie-Cardine, Aude, Silva, Nicolas Martin, Masseau, Agathe, Massot, Christian, Mazingue, Françoise, Merlin, Etienne, Michel, Gérard, Millot, Frédéric, Minckes, Odile, Monlibert, Béatrice, Monpoux, Fabrice, Moshous, Despina, Mouthon, Luc, Munzer, Martine, Neven, Bénédicte, Nove-Josserand, Raphaëlle, Oksenhendler, Eric, Ouachée-Chardin, Marie, Pagnier, Anne, Pasquali, Jean-Louis, Pasquet, Marlène, Pellier, Isabelle, Perel, Yves, Perlat, Antoinette, Picard, Capucine, Piguet, Christophe, Plantaz, Dominique, Quartier, Pierre, Rieux-Laucat, Frédéric, Roblot, Pascal, Roger, Pierre-Marie, Rohrlich, Pierre-Simon, Royer, Bruno, Salle, Valéry, Sarrot-Reynauld, Françoise, Servettaz, Amélie, Stephan, Jean-Louis, Schleinitz, Nicolas, Suarez, Felipe, Swiader, Laure, Taque, Sophie, Thomas, Caroline, Tournilhac, Olivier, Thumerelle, Caroline, Vannier, Jean-Pierre, and Viallard, Jean-François
Published: 2017
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24. Oncologic Phenotype of Peripheral Neuroblastic Tumors Associated With PHOX2B Non-Polyalanine Repeat Expansion Mutations

Author: Heide, Solveig, Masliah-Planchon, Julien, Isidor, Bertrand, Guimier, Anne, Bodet, Damien, Coze, Carole, Deville, Anne, Thebault, Estelle, Pasquier, Corinne Jeanne, Cassagnau, Elisabeth, Pierron, Gaelle, Clément, Nathalie, Schleiermacher, Gudrun, Amiel, Jeanne, Delattre, Olivier, Peuchmaur, Michel, and Bourdeaut, Franck
Published: 2016
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25. Successful allogeneic hematopoietic stem cell transplantation in a child with angioimmunoblastic T‐cell lymphoma: A case report.

Author: Delehaye, Fanny, Deparis, Marianna, Buchbinder, Nimrod, Bodet, Damien, Minard, Véronique, Jean‐Jacques, Bastien, Marie‐Laure, Quintyn, Gaulard, Philippe, Sako, Nouhoum, Robe, Cyrielle, Bardet, Hippolyte, Damaj, Gandhi, and Rouger, Jérémie
Published: 2023
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26. Impact of the social deprivation on the psychosocial difficulties of pediatric cancer survivors: a prospective multicentric study

Author: Delehaye, Fanny, primary, Dejardin, Olivier, additional, pellier, isabelle, additional, Launay, Ludivine, additional, Esvan, Maxime, additional, Bodet, Damien, additional, Carausu, Liana, additional, Lejeune, Julien, additional, Millot, Frederic, additional, Thomas, caroline, additional, Gandemer, Virginie, additional, Alves, Arnaud, additional, and Rod, julien, additional
Published: 2021
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27. Genetic diagnosis of primary immunodeficiencies: A survey of the French national registry

Author: Bellanné-Chantelot, Christine, Bustamante, Jacinta, Chollet-Martin, Sylvie, Drouet, Christian, Fremeaux-Bacchi, Véronique, Kannengiesser, Caroline, Girardin, Virginie, Lambert, Nathalie, Proulle, Valérie, Rosain, Jérémie, Stasia, Marie José, Lyonnet, Dominique Stoppa, Theodorou, Ioannis, Abou-Chahla, Wadih, Adoue, Daniel, Aladjidi, Nathalie, Amoura, Zahir, Armari-Alla, Corinne, Bader-Meunier, Brigitte, Barlogis, Vincent, Bayart, Sophie, Bertrand, Yves, Blanche, Stéphane, Bodet, Damien, Bonnotte, Bernard, Borie, Raphaël, Boutard, Patrick, Briandet, Claire, Brion, Jean-Paul, Brouard, Jacques, Carausu, Liana, Catherinot, Emilie, Cheikh, Nathalie, Cohen-Beaussant, Sarah, Couderc, Louis-Jean, Cougoul, Pierre, Couillault, Gérard, de Saint Basile, Geneviève, Devoldere, Catherine, Deville, Anne, Dore, Eric, Dulieu, Fabienne, Durieu, Isabelle, Werle, Natacha Entz, Fieschi, Claire, Fouyssac, Fanny, Frange, Pierre, Gajdos, Vincent, Galicier, Lionel, Gandemer, Virginie, Gardembas, Martine, Gaud, Catherine, Grosbois, Bernard, Guffroy, Aurélien, Guitton, Corinne, Guillerm, Gaelle, Hachulla, Eric, Hamidou, Mohamed, Haro, Sophie, Hatchuel, Yves, Hermine, Olivier, Hoarau, Cyrille, Hoen, Bruno, Hot, Arnaud, Humbert, Sébastien, Jaccard, Arnaud, Jacquot, Serge, Jaussaud, Rolland, Jeandel, Pierre-Yves, Jeziorski, Eric, Kebaili, Kamila, Korganow, Anne-Sophie, Lambotte, Olivier, Lanternier, Fanny, Larroche, Claire, Le Quellec, Alain, Le Moigne, Emmanuelle, Le Moing, Vincent, Launay, David, Lebranchu, Yvon, Lecuit, Marc, Lefevre, Guillaume, Lemal, Richard, Li-Thiao-Te, Valérie, Lortholary, Olivier, Malphettes, Marion, Marie-Cardine, Aude, Silva, Nicolas Martin, Masseau, Agathe, Massot, Christian, Mazingue, Françoise, Merlin, Etienne, Michel, Gérard, Millot, Frédéric, Monlibert, Béatrice, Monpoux, Fabrice, Moshous, Despina, Mouthon, Luc, Munzer, Martine, Neven, Bénédicte, Nove-Josserand, Raphaëlle, Nouar, Dalila, Oksenhendler, Eric, Ouachée-Chardin, Marie, Pagnier, Anne, Pasquet, Marlène, Pellier, Isabelle, Perel, Yves, Perlat, Antoinette, Piguet, Christophe, Plantaz, Dominique, Quartier, Pierre, Rieux-Laucat, Frédéric, Roblot, Pascal, Rohrlich, Pierre-Simon, Royer, Bruno, Salle, Valéry, Sarrot-Reynauld, Françoise, Servettaz, Amélie, Stephan, Jean-Louis, Schleinitz, Nicolas, Suarez, Felipe, Swiader, Laure, Taque, Sophie, Thomas, Caroline, Tournilhac, Olivier, Thumerelle, Caroline, Vannier, Jean-Pierre, Viallard, Jean-François, Mahlaoui, Nizar, Picard, Capucine, Bach, Perrine, Costes, Laurence, Courteille, Virginie, Ranohavimparany, Anja, Alcaïs, Alexandre, Jais, Jean-Philippe, and Fischer, Alain
Published: 2019
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28. Long‐term follow‐up of children with risk organ‐negative Langerhans cell histiocytosis after 2‐chlorodeoxyadenosine treatment

Author: Barkaoui, Mohamed‐Aziz, primary, Queheille, Emma, additional, Aladjidi, Nathalie, additional, Plat, Geneviève, additional, Jeziorski, Eric, additional, Moshous, Despina, additional, Lambilliotte, Anne, additional, Kebaili, Kamila, additional, Pacquement, Hélène, additional, Leverger, Guy, additional, Mansuy, Ludovic, additional, Entz‐Werlé, Natacha, additional, Bodet, Damien, additional, Schneider, Pascale, additional, Pagnier, Anne, additional, Lutun, Anne, additional, Gillibert‐Yvert, Marion, additional, Millot, Fréderic, additional, Toutain, Fabienne, additional, Reguerre, Yves, additional, Thomas, Caroline, additional, Tazi, Abdelatif, additional, Emile, Jean‐François, additional, Donadieu, Jean, additional, and Héritier, Sébastien, additional
Published: 2020
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29. Pheochromocytoma and Paraganglioma in Children and Adolescents: Experience of the French Society of Pediatric Oncology (SFCE)

Author: de Tersant, Marie, primary, Généré, Lucile, primary, Freyçon, Claire, primary, Villebasse, Sophie, primary, Abbas, Rachid, primary, Barlier, Anne, primary, Bodet, Damien, primary, Corradini, Nadège, primary, Defachelles, Anne-Sophie, primary, Entz-Werle, Natacha, primary, Fouquet, Cyrielle, primary, Galmiche, Louise, primary, Gandemer, Virginie, primary, Lacour, Brigitte, primary, Mansuy, Ludovic, primary, Orbach, Daniel, primary, Pluchart, Claire, primary, Réguerre, Yves, primary, Rigaud, Charlotte, primary, Sarnacki, Sabine, primary, Sirvent, Nicolas, primary, Stephan, Jean-Louis, primary, Thebaud, Estelle, primary, Gimenez-Roqueplo, Anne-Paule, primary, and Brugières, Laurence, primary
Published: 2020
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30. Psychiatric manifestation and pancytopenia during a sickle cell vaso‐occlusive crisis: An unusual etiology

Author: Delehaye, Fanny, primary, Villarbu, Mathilde, additional, Salaun, Véronique, additional, Bracquemart, Claire, additional, Goyer, Isabelle, additional, and Bodet, Damien, additional
Published: 2019
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31. Genetic diagnosis of primary immunodeficiencies: A survey of the French national registry

Author: Mahlaoui, Nizar, primary, Picard, Capucine, additional, Bach, Perrine, additional, Costes, Laurence, additional, Courteille, Virginie, additional, Ranohavimparany, Anja, additional, Alcaïs, Alexandre, additional, Jais, Jean-Philippe, additional, Fischer, Alain, additional, Bellanné-Chantelot, Christine, additional, Bustamante, Jacinta, additional, Chollet-Martin, Sylvie, additional, Drouet, Christian, additional, Fremeaux-Bacchi, Véronique, additional, Kannengiesser, Caroline, additional, Girardin, Virginie, additional, Lambert, Nathalie, additional, Proulle, Valérie, additional, Rosain, Jérémie, additional, Stasia, Marie José, additional, Lyonnet, Dominique Stoppa, additional, Theodorou, Ioannis, additional, Abou-Chahla, Wadih, additional, Adoue, Daniel, additional, Aladjidi, Nathalie, additional, Amoura, Zahir, additional, Armari-Alla, Corinne, additional, Bader-Meunier, Brigitte, additional, Barlogis, Vincent, additional, Bayart, Sophie, additional, Bertrand, Yves, additional, Blanche, Stéphane, additional, Bodet, Damien, additional, Bonnotte, Bernard, additional, Borie, Raphaël, additional, Boutard, Patrick, additional, Briandet, Claire, additional, Brion, Jean-Paul, additional, Brouard, Jacques, additional, Carausu, Liana, additional, Catherinot, Emilie, additional, Cheikh, Nathalie, additional, Cohen-Beaussant, Sarah, additional, Couderc, Louis-Jean, additional, Cougoul, Pierre, additional, Couillault, Gérard, additional, de Saint Basile, Geneviève, additional, Devoldere, Catherine, additional, Deville, Anne, additional, Dore, Eric, additional, Dulieu, Fabienne, additional, Durieu, Isabelle, additional, Werle, Natacha Entz, additional, Fieschi, Claire, additional, Fouyssac, Fanny, additional, Frange, Pierre, additional, Gajdos, Vincent, additional, Galicier, Lionel, additional, Gandemer, Virginie, additional, Gardembas, Martine, additional, Gaud, Catherine, additional, Grosbois, Bernard, additional, Guffroy, Aurélien, additional, Guitton, Corinne, additional, Guillerm, Gaelle, additional, Hachulla, Eric, additional, Hamidou, Mohamed, additional, Haro, Sophie, additional, Hatchuel, Yves, additional, Hermine, Olivier, additional, Hoarau, Cyrille, additional, Hoen, Bruno, additional, Hot, Arnaud, additional, Humbert, Sébastien, additional, Jaccard, Arnaud, additional, Jacquot, Serge, additional, Jaussaud, Rolland, additional, Jeandel, Pierre-Yves, additional, Jeziorski, Eric, additional, Kebaili, Kamila, additional, Korganow, Anne-Sophie, additional, Lambotte, Olivier, additional, Lanternier, Fanny, additional, Larroche, Claire, additional, Le Quellec, Alain, additional, Le Moigne, Emmanuelle, additional, Le Moing, Vincent, additional, Launay, David, additional, Lebranchu, Yvon, additional, Lecuit, Marc, additional, Lefevre, Guillaume, additional, Lemal, Richard, additional, Li-Thiao-Te, Valérie, additional, Lortholary, Olivier, additional, Malphettes, Marion, additional, Marie-Cardine, Aude, additional, Silva, Nicolas Martin, additional, Masseau, Agathe, additional, Massot, Christian, additional, Mazingue, Françoise, additional, Merlin, Etienne, additional, Michel, Gérard, additional, Millot, Frédéric, additional, Monlibert, Béatrice, additional, Monpoux, Fabrice, additional, Moshous, Despina, additional, Mouthon, Luc, additional, Munzer, Martine, additional, Neven, Bénédicte, additional, Nove-Josserand, Raphaëlle, additional, Nouar, Dalila, additional, Oksenhendler, Eric, additional, Ouachée-Chardin, Marie, additional, Pagnier, Anne, additional, Pasquet, Marlène, additional, Pellier, Isabelle, additional, Perel, Yves, additional, Perlat, Antoinette, additional, Piguet, Christophe, additional, Plantaz, Dominique, additional, Quartier, Pierre, additional, Rieux-Laucat, Frédéric, additional, Roblot, Pascal, additional, Rohrlich, Pierre-Simon, additional, Royer, Bruno, additional, Salle, Valéry, additional, Sarrot-Reynauld, Françoise, additional, Servettaz, Amélie, additional, Stephan, Jean-Louis, additional, Schleinitz, Nicolas, additional, Suarez, Felipe, additional, Swiader, Laure, additional, Taque, Sophie, additional, Thomas, Caroline, additional, Tournilhac, Olivier, additional, Thumerelle, Caroline, additional, Vannier, Jean-Pierre, additional, and Viallard, Jean-François, additional
Published: 2019
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32. Outcome after failure of allogeneic hematopoietic stem cell transplantation in children with acute leukemia: a study by the société Francophone de greffe de moelle et de thérapie cellulaire (SFGM-TC)

Author: Gilardin, Laurent, Delignat, Sandrine, Peyron, Ivan, Ing, Mathieu, Lone, Yu-Chun, Gangadharan, Bagirath, Michard, Baptiste, Kherabi, Yousra, Sharma, Meenu, Pashov, Anastas, Toutirais, Olivier, Loiseau, Pascale, Veyradier, Agnès, Kaveri, Srini, Maillere, Bernard, Coppo, Paul, Lacroix-Desmazes, Sébastien, Chatillon, Jean-François, Hamieh, Mohamad, Bayeux, Florence, Abasq, Claire, Fauquembergue, Emilie, Drouet, Aurélie, Guisier, Florian, Latouche, Jean-Baptiste, Musette, Philippe, Coignard-Biehler, Hélène, Mahlaoui, Nizar, Pilmis, Benoit, Barlogis, Vincent, Brosselin, Pauline, de Vergnes, Nathalie, Debré, Marianne, Malphettes, Marion, Frange, Pierre, Catherinot, Emilie, Pellier, Isabelle, Durieu, Isabelle, Perlat, Antoinette, Royer, Bruno, Le Quellec, Alain, Jeziorski, Eric, Fischer, Alain, Lortholary, Olivier, Aaron+, Laurent, Adoue, Daniel, Aguilar, Claire, Aladjidi, Nathalie, Alcaïs, Alexandre, Amoura, Zahir, Arlet, Philippe, Armari-Alla, Corinne, Bader-Meunier, Brigitte, Bayart, Sophie, Bienvenu, Boris, Blanche, Stéphane, Bodet, Damien, Bonnotte, Bernard, Borie, Raphael, Boutard, Patrick, Briandet, Claire, Brion, Jean-Paul, Brouard, Jacques, Cohen-Beaussant, Sarah, Costes, Laurence, Couderc, Louis-Jean, Cougoul, Pierre, Courteille, Virginie, de Saint Basile, Geneviève, Devoldere, Catherine, Deville, Anne, Donadieu, Jean, Doré, Eric, Dulieu, Fabienne, Edan, Christine, Entz-Werlé, Natacha, Fieschi, Claire, Forestier, Amandine, Fouyssac, Fanny, Gajdos, Vincent, Galicier, Lionel, Gandemer, Virginie, Gardembas, Martine, Gaud, Catherine, Guillerm, Gaelle, Hachulla, Eric, Hamidou, Mohamed, Hermine, Olivier, Hoarau, Cyrille, Humbert, Sebastien, Jaccard, Arnaud, Jacquot, Serge, Jais, Jean-Philippe, Jaussaud, Roland, Jeandel, Pierre-Yves, Kebaili, Kamila, Korganow, Anne-Sophie, Lambotte, Olivier, Lanternier, Fanny, Larroche, Claire, Lascaux, Anne-Sophie, Le Moigne, Emmanuelle, Le Moing, Vincent, Lebranchu, Yvon, Lecuit, Marc, Lefèvre, Guillaume, Lemal, Richard, Te, Valérie Li Thiao, Marie-Cardine, Aude, Silva, Nicolas Martin, Masseau, Agathe, Massot, Christian, Mazingue, Françoise, Merlin, Etienne, Monlibert, Béatrice, Monpoux, Fabrice, Moshous, Despina, Mouthon, Luc, Munzer, Martine, Neven, Bénédicte, Nove-Josserand, Raphaëlle, Oksenhendler, Eric, Ouachée-Chardin, Marie, Oudot, Caroline, Pagnier, Anne, Pasquali, Jean-Louis, Pasquet, Marlène, Perel, Yves, Picard, Capucine, Piguet, Christophe, Plantaz, Dominique, Provot, Johan, Quartier, Pierre, Rieux-Laucat, Frédéric, Roger, Pierre-Marie, Rohrlich, Pierre-Simon, Rubié, Hervé, Salle, Valéry, Sarrot-Reynauld, Françoise, Servettaz, Amélie, Stephan, Jean-Louis, Schleinitz, Nicolas, Suarez, Felipe, Swiader, Laure, Taque, Sophie, Thomas, Caroline, Tournilhac, Olivier, Thumerelle, Caroline, Tron, François, Viallard, Jean-François, Roux, Clément, Tifratene, K, Socie, G., Galambrun, C., Bertrand, Yves, Rialland, F., Jubert, C, Pochon, C, Paillard, C., Sirvent, A., Nelken, B., Vannier, Jean-Pierre, Freycon, C, Beguin, Y, Raus, N, Yakoub-Agha, I., Mohty, M., Dalle, J-H, Michel, Gérard, Pradier, C., Peffault de Latour, R., Rohrlich, P-S, Centre de Recherche des Cordeliers (CRC (UMR_S_1138 / U1138)), École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Centre de Recherche des Cordeliers (CRC), Université Pierre et Marie Curie - Paris 6 (UPMC)-École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Greffes d'Epitheliums et Regulation de l'Activation Lymphocytaire, Université Paris-Sud - Paris 11 (UP11)-Institut National de la Santé et de la Recherche Médicale (INSERM), Les Hôptaux universitaires de Strasbourg (HUS), CHU Strasbourg, Institut Stephan Angeloff, Réseau International des Instituts Pasteur (RIIP), Immunogénétique humaine, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'Hématologie Biologique [Béclère], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Antoine Béclère [Clamart], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de Recherche des Cordeliers (CRC (UMR_S 872)), Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Département d'Ingénierie et d'Etudes des Protéines, Commissariat à l'énergie atomique et aux énergies alternatives (CEA), CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), UNIROUEN - UFR Santé (UNIROUEN UFR Santé), Normandie Université (NU)-Normandie Université (NU), Service de dermatologie (Dermato - BREST), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Génétique du cancer et des maladies neuropsychiatriques (GMFC), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Rouen, Physiopathologie, Autoimmunité, maladies Neuromusculaires et THErapies Régénératrices (PANTHER), Service de Dermatologie [Rouen], Hôpital Charles Nicolle [Rouen], Normandie Université (NU)-Normandie Université (NU)-CHU Rouen, Centre de Référence Déficits Immunitaires Héréditaires (CEREDIH), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Centre d'infectiologie Necker-Pasteur [CHU Necker], Institut Pasteur [Paris] (IP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d'hématologie pédiatrique, Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Service d'immuno-hématologie pédiatrique [CHU Necker], Service d'Immunopathologie [Hôpital Saint-Louis, Paris], Université Paris Diderot - Paris 7 (UPD7)-Hopital Saint-Louis [AP-HP] (AP-HP), Unité d'Immunologie Hématologie et Rhumatologie Pédiatrique [Necker, Paris], Hôpital Foch [Suresnes], Innate Immunity and Immunotherapy (CRCINA-ÉQUIPE 7), Centre de Recherche en Cancérologie et Immunologie Nantes-Angers (CRCINA), Université d'Angers (UA)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Université d'Angers (UA)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre hospitalier universitaire de Nantes (CHU Nantes), Service de Médecine Interne - Centre Hospitalier Lyon Sud, Hospices Civils de Lyon (HCL)-Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL), Service de Médecine interne et immunologie clinique [Rennes] = internal medicine and clinical immunology [Rennes], CHU Pontchaillou [Rennes], CHU Amiens-Picardie, Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Collège de France - Chaire Médecine expérimentale (A. Fischer), Collège de France (CdF (institution)), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Département de Pédiatrie et maladies infectieuses [CHU Necker], CHU Necker - Enfants Malades [AP-HP], Service d'Hémato-oncologie Pédiatrique, CHU Bordeaux [Bordeaux]-Hôpital Pellegrin, Génétique Humaine des Maladies Infectieuses (Inserm U980), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre d'Immunologie et des Maladies Infectieuses (CIMI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service Médecine Interne et immunologie clinique [CHU Toulouse], Pôle Maladies de l'appareil digestif [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Hôpital de la Tronche, Département d'Immunologie, hématologie et rhumatologie pédiatriques [Hôpital Necker-Enfants malades - APHP], Hématogoie pédiatrique, hôpital Sud, Laboratoire de Mathématiques Nicolas Oresme (LMNO), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-Centre National de la Recherche Scientifique (CNRS), Interactions hôte-greffon-tumeur, ingénierie cellulaire et génique - UFC (UMR INSERM 1098) (RIGHT), Institut National de la Santé et de la Recherche Médicale (INSERM)-Etablissement français du sang [Bourgogne-Franche-Comté] (EFS BFC)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), Physiopathologie et Epidémiologie des Maladies Respiratoires (PHERE (UMR_S_1152 / U1152)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Côte de Nacre [CHU Caen], CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Service de Pédiatrie Enfants - Hématologie Oncologie [CHU de Dijon], Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Service des Maladies Infectieuses, CHU Grenoble, Service de Pédiatrie Médicale [Caen], Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Nutrition et Neurobiologie intégrée (NutriNeuro), Université Bordeaux Segalen - Bordeaux 2-Institut National de la Recherche Agronomique (INRA)-Université Sciences et Technologies - Bordeaux 1 (UB)-Institut Polytechnique de Bordeaux-Ecole nationale supérieure de chimie, biologie et physique, Developpement Normal et Pathologique du Système Immunitaire, Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service d'Hémato-oncologie Pédiatrique [CHU Nice], Centre Hospitalier Universitaire de Nice (CHU Nice), CHU Trousseau [APHP], Centre d'Investigation Clinique [CHU Clermont-Ferrand] (CIC 1405), Institut National de la Santé et de la Recherche Médicale (INSERM)-Direction de la recherche clinique et de l’innovation [CHU Clermont-Ferrand] (DRCI), CHU Clermont-Ferrand-CHU Clermont-Ferrand, Département d'Oncologie Pédiatrique [CHU Hautepierre, Strasbourg], Hôpital de Hautepierre [Strasbourg], Immunologie clinique [CHU St-Louis], Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Service d'Hématologie et d'Oncologie Pédiatrique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de médecine de l'enfant et de l'adolescent [CHU Rennes], Apoptosis and Tumor Progression (CRCINA-ÉQUIPE 9), Service Hématologie, Hôpital Morvan [Brest]-Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Lille Inflammation Research International Center - U 995 (LIRIC), Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service de médecine interne [Nantes], Université de Nantes (UN)-Hôtel-Dieu-Centre hospitalier universitaire de Nantes (CHU Nantes), Université Paris Descartes - Faculté de Médecine (UPD5 Médecine), Université Paris Descartes - Paris 5 (UPD5), Cellules Dendritiques, Immunomodulation et Greffes, Université de Tours (UT), Ecole Polytechnique Fédérale de Lausanne (EPFL), Physiologie Moléculaire de la Réponse Immune et des Lymphoproliférations (PMRIL), Université de Limoges (UNILIM)-Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503)-Centre National de la Recherche Scientifique (CNRS), Physiopathologie et biothérapies des maladies inflammatoires et autoimmunes, Service d'informatique médicale et biostatistiques [CHU Necker], Université de Reims Champagne-Ardenne (URCA), Institut d’Hémato-Oncologie Pédiatrique, Immunologie et chimie thérapeutiques (ICT), Cancéropôle du Grand Est-Centre National de la Recherche Scientifique (CNRS), service de Médecine Interne et d'Immunologie Clinique [AP-HP Hôpital Bicêtre], Université Paris-Sud - Paris 11 (UP11)-Hôpital Bicêtre, Assistance Publique - Hôpitaux de Paris (AP-HP), Internal Medicine, Paris, Hôpital Henri Mondor, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Département de Médecine Interne et Pneumologie [Brest] (DMIP - Brest), Recherches Translationnelles sur le VIH et les maladies infectieuses endémiques et émergentes (TransVIHMI), Institut de Recherche pour le Développement (IRD)-Université de Yaoundé I-Université Cheikh Anta Diop [Dakar, Sénégal] (UCAD)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Service de Néphrologie - Hypertension Artérielle Dialyse - Transplantation, Catalysis, Synthesis of Biomolecules and Sustainable Development (CSB2D), Centre National de la Recherche Scientifique (CNRS), Role of intra-Clonal Heterogeneity and Leukemic environment in ThErapy Resistance of chronic leukemias (CHELTER), Université Clermont Auvergne [2017-2020] (UCA [2017-2020]), Unité de Biostatistique et de Recherche Clinique (UBRC), Dept of Physiology, McGill University = Université McGill [Montréal, Canada], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Institut Jean Godinot [Reims], UNICANCER, Service d'Immunopathologie Clinique, Service d'hématologie et immunologie pédiatrique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Service de Pédiatrie médicale - Spécialités médicales [CHU Limoges], CHU Limoges, Service Immuno Hémato-Onco Pédiatrique, Sercice Hématologie, immunologie et oncologie pédiatrique [CHU Toulouse], Pôle Enfants [CHU Toulouse], Hôpital Pellegrin, CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Service Hématologie Infantile, Immunogenetics of pediatric autoimmune diseases (Equipe Inserm U1163), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Nice Sophia Antipolis (1965 - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA), Clinique de médecine interne, Université Joseph Fourier - Grenoble 1 (UJF)-CHU Grenoble, Département de Médecine Interne, Immunologie clinique et maladies infectieuses [CHU Reims], Université de Reims Champagne-Ardenne (URCA)-Centre Hospitalier Universitaire de Reims (CHU Reims), Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), Hôpital de la Timone [CHU - APHM] (TIMONE), Service d'Hématologie et d'Oncologie pédiatrique, Service d'hématologie clinique, Hôpital Hôtel-Dieu [Paris], Service de pneumologie pédiatrique, Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Protéines de défense des réponses immune et inflammatoire : identification, régulation et rôles physiopathologiques, Médecine Interne, CHU Bordeaux [Bordeaux]-Hôpital Haut-Lévêque [CHU Bordeaux], CHU Bordeaux [Bordeaux], Service de rhumatologie [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Hôpital Saint-Louis, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Service de Pediatrie Debrousse, Hôpital Debrousse, Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Centre hospitalier universitaire de Nantes (CHU Nantes), Institut de Combustion, Aérothermique, Réactivité et Environnement (ICARE), Université d'Orléans (UO)-Centre National de la Recherche Scientifique (CNRS)-Institut des Sciences de l'Ingénierie et des Systèmes (INSIS - CNRS), Service d'Hématologie et d'Oncologie Médicale, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Lapeyronie, Service d'hémato-immuno-oncologie pédiatrique [Rouen], Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Etablissement français du sang [Poitiers] (EFS), Public Health Department, Hôpital de l'Archet, Institut Universitaire d'Hématologie (IUH), Université Paris Diderot - Paris 7 (UPD7), École pratique des hautes études (EPHE)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Université Paris Diderot - Paris 7 (UPD7)-École pratique des hautes études (EPHE)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Antoine Béclère, Service d'hématologie clinique et de thérapie cellulaire [CHU Saint-Antoine], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Saint-Antoine [APHP], Hôpital Charles Nicolle [Rouen]-CHU Rouen, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP], Université Paris Diderot - Paris 7 (UPD7)-CHU Saint Louis [APHP], CHU Necker - Enfants Malades [AP-HP]-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Innate immunity and Immunotherapy (CRCINA - Département INCIT - Equipe 7), Centre de recherche de Cancérologie et d'Immunologie / Nantes - Angers (CRCINA), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), Service de médecine interne, Hôpital Universitaire d'Amiens, CHU Toulouse [Toulouse], Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), Centre d'Immunologie et de Maladies Infectieuses (CIMI), Service de médecine interne, hôpital Purpan, Hôpital Sud, Interactions hôte-greffon-tumeur, ingénierie cellulaire et génique - UFC (UMR INSERM 1098) (HOTE GREFFON), Université de Franche-Comté (UFC)-Etablissement français du sang [Bourgogne-France-Comté] (EFS [Bourgogne-France-Comté])-Institut National de la Santé et de la Recherche Médicale (INSERM), Nutrition et Neurobiologie intégrée (NutriNeur0), Ecole nationale supérieure de chimie, biologie et physique-Institut Polytechnique de Bordeaux-Université Sciences et Technologies - Bordeaux 1-Institut National de la Recherche Agronomique (INRA)-Université Bordeaux Segalen - Bordeaux 2, Service d’oncologie hématologie pédiatrique [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Trousseau [APHP], CIC - Clermont Ferrand, Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de médecine de l'enfant et de l'adolescent, CHU Pontchaillou [Rennes]-Hôpital Sud, Apoptose et Progression tumorale (CRCNA / Equipe 9), Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Recherche en Santé de l'Université de Nantes (IRS-UN), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest)-Hôpital Morvan [Brest], Lille Inflammation Research International Center (LIRIC), Université de Tours, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Recherches Translationnelles sur le VIH et les maladies infectieuses (TransVIHMI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Recherche pour le Développement (IRD)-Université Montpellier 1 (UM1)-Université Cheikh Anta Diop [Dakar, Sénégal] (UCAD)-Universtié Yaoundé 1 [Cameroun]-Université de Montpellier (UM), CHU Toulouse [Toulouse]-Hôpital de Rangueil, Institute of Chemistry for Life and Health Sciences (i-CLEHS), Role of intra-Clonal Heterogeneity and Leukemic environment in ThErapy Resistance of chronic leukemias - Clermont Auvergne (CHELTER), Université Clermont Auvergne (UCA), McGill University, Institut Jean Godinot, CRLCC Jean Godinot, Université Paris Diderot - Paris 7 (UPD7)-Hôpital Robert Debré-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Hématologie pédiatrique, Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Nice Sophia Antipolis (... - 2019) (UNS), Université Côte d'Azur (UCA), Unité d'Hémato-Oncologie, Hôpital des Enfants, CHU Saint-Etienne, Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Rouen Normandie (UNIROUEN), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Cochin [AP-HP], Université Paris Diderot - Paris 7 (UPD7)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Université d'Orléans (UO)-Centre National de la Recherche Scientifique (CNRS)-Institut des Sciences de l'Ingénierie et des Systèmes (INSIS), CHU Saint-Antoine [APHP], École pratique des hautes études (EPHE), Université Pierre et Marie Curie - Paris 6 (UPMC)-École pratique des hautes études (EPHE), Université Paris Descartes - Paris 5 (UPD5)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Institut Pasteur [Paris]-CHU Necker - Enfants Malades [AP-HP], Hopital Saint-Louis [AP-HP] (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Centre National de la Recherche Scientifique (CNRS)-Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Centre National de la Recherche Scientifique (CNRS)-Université d'Angers (UA), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Chaire Médecine expérimentale (A. Fischer), Centre National de la Recherche Scientifique (CNRS)-Université de Caen Normandie (UNICAEN), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC)-Etablissement français du sang [Bourgogne-Franche-Comté] (EFS [Bourgogne-Franche-Comté]), Université Bordeaux Segalen - Bordeaux 2-Institut National de la Recherche Agronomique (INRA)-Université Sciences et Technologies - Bordeaux 1-Institut Polytechnique de Bordeaux-Ecole nationale supérieure de chimie, biologie et physique, Service d'hématologie-immunologie-oncologie pédiatrique [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris-Sud - Paris 11 (UP11)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), CHU Pontchaillou [Rennes]-hôpital Sud, Recherches Translationnelles sur le VIH et les maladies infectieuses endémiques er émergentes (TransVIHMI), Université Cheikh Anta Diop [Dakar, Sénégal] (UCAD)-Institut de Recherche pour le Développement (IRD)-Université de Yaoundé I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Université Montpellier 1 (UM1), Université Paris Diderot - Paris 7 (UPD7)-Hôpital Robert Debré-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Etablissement français du sang [Bourgogne-Franche-Comté] (EFS [Bourgogne-Franche-Comté])-Université de Franche-Comté (UFC), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Institut Pasteur de Lille, and Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)
Subjects: Oncology, medicine.medical_specialty, Palliative care, medicine.medical_treatment, [SDV]Life Sciences [q-bio], Hematopoietic stem cell transplantation, Donor lymphocyte infusion, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Transplantation, Homologous, Treatment Failure, Child, ComputingMilieux_MISCELLANEOUS, Retrospective Studies, Transplantation, Acute leukemia, Chemotherapy, Leukemia, business.industry, Palliative Care, Hematopoietic Stem Cell Transplantation, Hematology, Precursor Cell Lymphoblastic Leukemia-Lymphoma, medicine.disease, Donor Lymphocytes, Leukemia, Biphenotypic, Acute, 3. Good health, Surgery, Survival Rate, Leukemia, Myeloid, Acute, Treatment Outcome, Lymphocyte Transfusion, 030220 oncology & carcinogenesis, Acute Disease, Disease Progression, [SDV.IMM]Life Sciences [q-bio]/Immunology, business, 030215 immunology
Abstract: Allogeneic hematopoietic stem cell transplantation (SCT) contributes to improved outcome in childhood acute leukemia (AL). However, therapeutic options are poorly defined in the case of post-transplantation relapse. We aimed to compare treatment strategies in 334 consecutive children with acute leukemia relapse or progression after SCT in a recent 10-year period. Data could be analyzed in 288 patients (157 ALL, 123 AML and 8 biphenotypic AL) with a median age of 8.16 years at transplantation. The median delay from first SCT to relapse or progression was 182 days. The treatment consisted of chemotherapy alone (n=108), chemotherapy followed by second SCT (n=70), supportive/palliative care (n=67), combination of chemotherapy and donor lymphocyte infusion (DLI; n=30), or isolated reinfusion of donor lymphocytes (DLI; n=13). The median OS duration after relapse was 164 days and differed according to therapy: DLI after chemotherapy=385 days, second allograft=391 days, chemotherapy=174 days, DLI alone=140 days, palliative care=43 days. A second SCT or a combination of chemotherapy and DLI yielded similar outcome (hazard ratio (HR)=0.85, P=0.53) unlike chemotherapy alone (HR=1.43 P=0.04), palliative care (HR=4.24, P
Published: 2017
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33. Deep intronic hotspot variant explaining rhabdoid tumor predisposition syndrome in two patients with atypical teratoid and rhabdoid tumor

Author: Tauziède-Espariat, Arnault, primary, Masliah-Planchon, Julien, additional, Brugières, Laurence, additional, Puget, Stéphanie, additional, Dufour, Christelle, additional, Schneider, Pascale, additional, Laquerrière, Annie, additional, Frebourg, Thierry, additional, Bodet, Damien, additional, Lechapt-Zalcman, Emmanuèle, additional, Pierron, Gaëlle, additional, Delattre, Olivier, additional, Varlet, Pascale, additional, and Bourdeaut, Franck, additional
Published: 2017
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34. Evans Syndrome in Children: Long-Term Outcome in a Prospective French National Observational Cohort

Author: Aladjidi, Nathalie, primary, Fernandes, Helder, additional, Leblanc, Thierry, additional, Vareliette, Amélie, additional, Rieux-Laucat, Frédéric, additional, Bertrand, Yves, additional, Chambost, Hervé, additional, Pasquet, Marlène, additional, Mazingue, Françoise, additional, Guitton, Corinne, additional, Pellier, Isabelle, additional, Roqueplan-Bellmann, Françoise, additional, Armari-Alla, Corinne, additional, Thomas, Caroline, additional, Marie-Cardine, Aude, additional, Lejars, Odile, additional, Fouyssac, Fanny, additional, Bayart, Sophie, additional, Lutz, Patrick, additional, Piguet, Christophe, additional, Jeziorski, Eric, additional, Rohrlich, Pierre, additional, Lemoine, Philippe, additional, Bodet, Damien, additional, Paillard, Catherine, additional, Couillault, Gérard, additional, Millot, Frédéric, additional, Fischer, Alain, additional, Pérel, Yves, additional, and Leverger, Guy, additional
Published: 2015
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35. Oncologic Phenotype of Peripheral Neuroblastic Tumors Associated WithPHOX2BNon-Polyalanine Repeat Expansion Mutations

Author: Heide, Solveig, primary, Masliah-Planchon, Julien, additional, Isidor, Bertrand, additional, Guimier, Anne, additional, Bodet, Damien, additional, Coze, Carole, additional, Deville, Anne, additional, Thebault, Estelle, additional, Pasquier, Corinne Jeanne, additional, Cassagnau, Elisabeth, additional, Pierron, Gaelle, additional, Clément, Nathalie, additional, Schleiermacher, Gudrun, additional, Amiel, Jeanne, additional, Delattre, Olivier, additional, Peuchmaur, Michel, additional, and Bourdeaut, Franck, additional
Published: 2015
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36. Pheochromocytoma and Paraganglioma in Children and Adolescents: Experience of the French Society of Pediatric Oncology (SFCE).

Author: Tersant, Marie de, Généré, Lucile, Freyçon, Claire, Villebasse, Sophie, Abbas, Rachid, Barlier, Anne, Bodet, Damien, Corradini, Nadège, Defachelles, Anne-Sophie, Entz-Werle, Natacha, Fouquet, Cyrielle, Galmiche, Louise, Gandemer, Virginie, Lacour, Brigitte, Mansuy, Ludovic, Orbach, Daniel, Pluchart, Claire, Réguerre, Yves, Rigaud, Charlotte, and Sarnacki, Sabine
Subjects: PHEOCHROMOCYTOMA, PARAGANGLIOMA, TUMORS in children
Abstract: Purpose The purpose of this work is to assess the clinical outcome of pediatric patients diagnosed with pheochromocytoma and paraganglioma (PPGL) detected in France since 2000. Methods A retrospective multicenter study was conducted that included all patients younger than 18 years with PPGL diagnosed in France between 2000 and 2016. Patients were identified from 4 different sources: the National Registry of Childhood Solid Tumors, the French Pediatric Rare Tumors Database, the French registry of succinate dehydrogenase (SDH)-related hereditary paraganglioma, and the nationwide TenGen network. Results Among 113 eligible patients, 81 children with available data were enrolled (41 with adrenal and 40 with extra-adrenal PPGL). At diagnosis, 11 had synchronous metastases. After a median follow-up of 53 months, 27 patients experienced a new event (n = 7 second PPGL, n = 1 second paraganglioma [PGL], n = 8 local recurrences, n = 10 metastatic relapses, n = 1 new tumor) and 2 patients died of their disease. The 3- and 10-year event-free survival rates were 80% (71%-90%) and 39% (20%-57%),respectively, whereas the overall survival rate was 97% (93%-100%)at 3 and 10 years. A germline mutation in one PPGL-susceptibility gene was identified in 53 of the 68 (77%) patients who underwent genetic testing (SDHB [n = 25], VHL [n = 21], RET [n = 2], HIF2A [n = 2], SDHC [n = 1], SDHD [n = 1], NF1 [n = 1]). Incomplete resection and synchronous metastases were associated with higher risk of events (P = .011, P = .004), but presence of a germline mutation was not (P = .11). Conclusions Most pediatric PPGLs are associated with germline mutations and require specific follow-up because of the high risk of tumor recurrence. [ABSTRACT FROM AUTHOR]
Published: 2020
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37. Nanopore Sequencing as a Cutting-Edge Technology for Medulloblastoma Classification.

Author: Filser M, Torrejon J, Merchadou K, Dufour C, Girard E, Bourneix C, Lemaître E, Gharsalli T, Brillet R, Wong J, Gentien D, Rapinat A, Servant N, Vasiljevic A, Bertozzi AI, Raimbault S, Tauziede Espariat A, Lhermitte B, Faure-Conter C, Icher C, Berger C, Maurage CA, Bodet D, Meyronet D, Uro-Coste E, De Carli E, Forest F, Palenzuela G, Chotard G, Gauchotte G, Sudour H, Mansuy L, Deparis M, Tallegas M, Faisant M, Entz-Werle N, Varlet P, Leblond P, Michalak-Provost S, Proust Houdemont S, Rigau V, Doz F, Delattre O, Bourdeaut F, Ayrault O, and Masliah-Planchon J
Abstract: Background: Medulloblastoma (MB) is one of the most prevalent embryonal malignant brain tumors. Current classification organizes these tumors into four molecular subgroups (WNT, SHH, Group 3, and Group 4 MB). Recently, a comprehensive classification has been established, identifying numerous subtypes, some of which exhibit a poor prognosis. It is critical to establish effective subtyping methods for accurate diagnosis and patient's management that strikes a delicate balance between improving outcomes and minimizing the risk of comorbidities., Methods: We evaluated the ability of Nanopore sequencing to provide clinically relevant methylation and copy number profiles of MB. Nanopore sequencing was applied to an EPIC cohort of 44 frozen MB, benchmarked against the gold standard EPIC array, and further evaluated on an integrated diagnosis cohort of 116 MB., Results: Most MB of both cohorts (42/44; 95.5% and 106/116; 91.4% respectively) were accurately subgrouped by Nanopore sequencing. Employing Flongle flow cells for 18 MB allowed a more rapid and cost-effective analysis, with 94.4% (17/18) being correctly classified. Nanopore sequencing enabled us to accurately subtype 28/30 (93.3%) MB., Conclusion: This study, conducted on the largest cohort of MB analyzed with Nanopore sequencing to date, establishes the proof of concept that this modern and innovative technology is well-suited for MB classification. Nanopore sequencing demonstrates a robust capacity for precise subtyping of MB, a critical advancement that holds significant potential for enhancing patient stratification in future clinical trials. Its ability to deliver quick and cost-effective results firmly establishes it as a game-changer in the field of MB classification., (© The Author(s) 2024. Published by Oxford University Press on behalf of the Society for Neuro-Oncology. All rights reserved. For commercial re-use, please contact reprints@oup.com for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact journals.permissions@oup.com.)
Published: 2024
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38. [The announcement in pediatric oncology - Feedback on simulation-based training within the GOCE (Grand Ouest cancer de l'enfant - Grand West Childhood Cancer)].

Author: Courtel T, Lefresne M, Cartier I, Gerasse J, Gislier E, Proust S, Flambard C, Bodet D, and Pellier I
Subjects: Humans, France, Child, Internship and Residency, Physician-Patient Relations, Medical Oncology education, Pediatrics education, Simulation Training methods, Neoplasms therapy, Truth Disclosure
Abstract: The announcement of a cancer diagnosis is a crucial moment in the management of the disease, as it is the starting point for a relationship of trust between patient and caregiver. In 2005, this issue led to the creation of an announcement system as part of the 2003-2007 cancer plan, but its implementation in practice remains uncertain. Pediatric oncology has its own specificities, with a triangular relationship and the need for doctors to adapt to the child's age. These skills require special training, and training opportunities vary from one area to another. To this end, the Angers and Caen centers have developed simulation exercises for training in pediatric oncology announcement. These consist of a theoretical part, followed by an announcement interview with actors, then a debriefing. Evaluation questionnaires are completed by learners before and after the session, and have highlighted the usefulness of this training, particularly in helping them to feel better prepared to face this stressful moment. As simulation has proved its educational value in the healthcare field, GOCE has developed simulation-based training courses for interns/CCAs/assistants in the territory. These courses are much appreciated and are proving extremely useful in clinical practice. This has led the SFCE to extend these courses to all CCAs and young PHs in pediatric oncology in France., (Copyright © 2024. Published by Elsevier Masson SAS.)
Published: 2024
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39. Molecular and clinicopathologic characterization of pediatric histiocytoses.

Author: Hélias-Rodzewicz Z, Donadieu J, Terrones N, Barkaoui MA, Lambilliotte A, Moshous D, Thomas C, Azarnoush S, Pasquet M, Mansuy L, Aladjidi N, Jeziorski E, Marec-Berard P, Gilibert-Yvert M, Spiegel A, Saultier P, Pellier I, Pagnier A, Pertuisel S, Poiree M, Bodet D, Millot F, Isfan F, Stephan JL, Leruste A, Rigaud C, Filhon B, Carausu L, Reguerre Y, Kieffer I, Brichard B, Ben Jannet R, Bakari M, Idbaih A, Bodemer C, Cohen-Aubart F, Haroche J, Tazi A, Boudjemaa S, Fraitag S, Emile JF, and Heritier S
Subjects: Humans, Child, Proto-Oncogene Proteins B-raf genetics, Mutation, Exons, Histiocytosis, Langerhans-Cell genetics, Erdheim-Chester Disease genetics
Abstract: The spectrum of somatic mutations in pediatric histiocytoses and their clinical implications are not fully characterized, especially for non-Langerhans cell histiocytosis (-LCH) subtypes. A cohort of 415 children with histiocytosis from the French histiocytosis registry was reviewed and analyzed for BRAF V600E . Most BRAF WT samples were analyzed by next-generation sequencing (NGS) with a custom panel of genes for histiocytosis and myeloid neoplasia. Of 415 case samples, there were 366 LCH, 1 Erdheim-Chester disease, 21 Rosai-Dorfman disease (RDD), 21 juvenile xanthogranuloma (JXG, mostly with severe presentation), and 6 malignant histiocytosis (MH). BRAF V600E was the most common mutation found in LCH (50.3%, n = 184). Among 105 non-BRAF V600E -mutated LCH case samples, NGS revealed mutations as follows: MAP2K1 (n = 44), BRAF exon 12 deletions (n = 26), and duplications (n = 8), other BRAF V600 codon mutation (n = 4), and non-MAP-kinase pathway genes (n = 5). Wild-type sequences were identified in 17.1% of samples. BRAF V600E was the only variant significantly correlated with critical presentations: organ-risk involvement and neurodegeneration. MAP-kinase pathway mutations were identified in seven RDD (mostly MAP2K1) and three JXG samples, but most samples were wild-type on NGS. Finally, two MH samples had KRAS mutations, and one had a novel BRAF G469R mutation. Rarely, we identified mutations unrelated to MAP-kinase pathway genes. In conclusion, we characterized the mutational spectrum of childhood LCH and clinical correlations of variants and subtypes. Variants responsible for JXG and RDD were not elucidated in more than half of the cases, calling for other sequencing approaches., (© 2023 The Authors. American Journal of Hematology published by Wiley Periodicals LLC.)
Published: 2023
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40. A 1-Year Prospective French Nationwide Study of Emergency Hospital Admissions in Children and Adults with Primary Immunodeficiency.

Author: Coignard-Biehler H, Mahlaoui N, Pilmis B, Barlogis V, Brosselin P, De Vergnes N, Debré M, Malphettes M, Frange P, Catherinot E, Pellier I, Durieu I, Perlat A, Royer B, Le Quellec A, Jeziorski E, Fischer A, Lortholary O, Aaron L, Adoue D, Aguilar C, Aladjidi N, Alcais A, Amoura Z, Arlet P, Armari-Alla C, Bader-Meunier B, Bayart S, Bertrand Y, Bienvenu B, Blanche S, Bodet D, Bonnotte B, Borie R, Boutard P, Briandet C, Brion JP, Brouard J, Cohen-Beaussant S, Costes L, Couderc LJ, Cougoul P, Courteille V, de Saint Basile G, Devoldere C, Deville A, Donadieu J, Dore E, Dulieu F, Edan C, Entz-Werle N, Fieschi C, Forestier A, Fouyssac F, Gajdos V, Galicier L, Gandemer V, Gardembas M, Gaud C, Guillerm G, Hachulla E, Hamidou M, Hermine O, Hoarau C, Humbert S, Jaccard A, Jacquot S, Jais JP, Jaussaud R, Jeandel PY, Kebaili K, Korganow AS, Lambotte O, Lanternier F, Larroche C, Lascaux AS, Le Moigne E, Le Moing V, Lebranchu Y, Lecuit M, Lefevre G, Lemal R, Te VLT, Marie-Cardine A, Silva NM, Masseau A, Massot C, Mazingue F, Merlin E, Michel G, Millot F, Monlibert B, Monpoux F, Moshous D, Mouthon L, Munzer M, Neven B, Nove-Josserand R, Oksenhendler E, Ouachée-Chardin M, Oudot C, Pagnier A, Pasquali JL, Pasquet M, Perel Y, Picard C, Piguet C, Plantaz D, Provot J, Quartier P, Rieux-Laucat F, Roblot P, Roger PM, Rohrlich PS, Rubie H, Salle V, Sarrot-Reynauld F, Servettaz A, Stephan JL, Schleinitz N, Suarez F, Swiader L, Taque S, Thomas C, Tournilhac O, Thumerelle C, Tron F, Vannier JP, and Viallard JF
Subjects: Adult, Child, Communicable Disease Control, Communicable Diseases etiology, Disease Management, France epidemiology, Humans, Incidence, Pre-Exposure Prophylaxis, Primary Immunodeficiency Diseases diagnosis, Primary Immunodeficiency Diseases etiology, Primary Immunodeficiency Diseases therapy, Public Health Surveillance, Treatment Outcome, Emergency Medical Services, Hospitalization, Primary Immunodeficiency Diseases epidemiology
Abstract: Purpose: Patients with primary immunodeficiency (PID) are at risk of serious complications. However, data on the incidence and causes of emergency hospital admissions are scarce. The primary objective of the present study was to describe emergency hospital admissions among patients with PID, with a view to identifying "at-risk" patient profiles., Methods: We performed a prospective observational 12-month multicenter study in France via the CEREDIH network of regional PID reference centers from November 2010 to October 2011. All patients with PIDs requiring emergency hospital admission were included., Results: A total of 200 admissions concerned 137 patients (73 adults and 64 children, 53% of whom had antibody deficiencies). Thirty admissions were reported for 16 hematopoietic stem cell transplantation recipients. When considering the 170 admissions of non-transplant patients, 149 (85%) were related to acute infections (respiratory tract infections and gastrointestinal tract infections in 72 (36%) and 34 (17%) of cases, respectively). Seventy-seven percent of the admissions occurred during winter or spring (December to May). The in-hospital mortality rate was 8.8% (12 patients); death was related to a severe infection in 11 cases (8%) and Epstein-Barr virus-induced lymphoma in 1 case. Patients with a central venous catheter (n = 19, 13.9%) were significantly more hospitalized for an infection (94.7%) than for a non-infectious reason (5.3%) (p = 0.04)., Conclusion: Our data showed that the annual incidence of emergency hospital admission among patients with PID is 3.4%. The leading cause of emergency hospital admission was an acute infection, and having a central venous catheter was associated with a significantly greater risk of admission for an infectious episode.
Published: 2019
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