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1. Childhood Langerhans cell histiocytosis hematological involvement: severity associated with BRAFV600E loads

Author

Devoldere, Catherine, Gourmel, Antoine, Lutun, Anne, Leglise, Sophie, Pellier, Isabelle, Proust, Stéphanie, Cheikh, Nathalie, Klein, Sébastien, Simon, Pauline, Verite, Cécile, Miaz, Leila, Bodet, Damien, Deparis, Marianna, Gaudichon, Jérémie, Dore, Eric, Kanold, Justyna, Briandet, Claire, Desplantes, Claire, Neuman, Florent, Adjaoud, Dalila, Armari-Alla, Corinne, Plantaz, Dominique, Perret, Cécile, Bruno, Bénedicte, Nelken, Brigitte, Piguet, Christophe, Bertrand, Yves, Garnier, Nathalie, Kebaili, Kamila, Ouachee, Marie, Coze, Carole, Curtillet, Catherine, Gentet, Jean-Claude, Michel, Gérard, Galambrun, Claire, Chastagner, Pascal, Boutroux, Hélène, Landman-Parker, Judith, Bodak, Nathalie, Leverger, Guy, Petit, Arnaud, Simonin, Mathieu, Tabone, Marie-Dominique, Bader-Meunier, Brigitte, Blanche, Stéphane, Castelle, Martin, Neven, Bénédicte, Bodemer, Christine, Perrin, Olivia Boccara, Aerts, Isabelle, Orbach, Daniel, Bourdeaut, Franck, Brugieres, Laurence, Dufour, Christelle, Minard, Véronique, Valteau-Couanet, Dominique, Blanc, Laurence, Millot, Frédéric, Guimard, Grégory, Pluchart, Claire, Bonneau, Jacinthe, Chappe, Céline, Taque, Sophie, Pertuisel, Sophie, Gandemer, Virginie, Probert, Jamie, Puiseux, Chloé, Buchbinder, Nimrod, Dumesnil, Cécile, Filhon, Bruno, Marie-Cardine, Aude, Schneider, Pascale, Berger, Claire, Thouvenin-Doulet, Sandrine, Entz-Werle, Natacha, Paillard, Catherine, Spiegel, Alexandra, Plat, Geneviève, Blouin, Pascale, Jourdain, Anne, Yvert-Guillebert, Marion, Jehanne, Mathilde, Benadiba, Joy, Soler, Christine, Poiree, Maryline, Haouy, Stéphanie, Sirvent, Nicolas, Saumet, Laure, Thalhammer, Julian, Jeziorski, Eric, Marec-Bérard, Perrine, Barkaoui, Mohamed Aziz, Pagnier, Anne, Rohrlich, Pierre-Simon, Chevallier, Aurore, Carausu, Liana, Aladjidi, Nathalie, Rigaud, Charlotte, Leruste, Amaury, Azarnoush, Saba, Lauvray, Thomas, Le Louet, Solenne, Treguier, Pauline, Mansuy, Ludovic, Pasquet, Marlene, Olivier, Laura, Rome, Angélique, Saultier, Paul, Isfan, Fiorentina, Renard, Cécile, Li Thiao Te, Valerie, Salmon, Alexandra, Abou Chahla, Wadih, Lambilliotte, Anne, Stephan, Jean-Louis, Geissmann, Frederic, Lejeune, Julien, Mallebranche, Coralie, Reguerre, Yves, Grain, Audrey, Thomas, Caroline, Hélias-Rodzewicz, Zofia, Moshous, Despina, Fenneteau, Odile, Coulomb-L’Hermine, Aurore, Lapillonne, Hélène, de Saint-Basile, Geneviève, Emile, Jean-François, Héritier, Sébastien, and Donadieu, Jean

Published
2025
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2. Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival

Author

Vallée, Tanja C., Glasmacher, Jannik S., Buchner, Hannes, Arkwright, Peter D., Behrends, Uta, Bondarenko, Anastasia, Browning, Michael J., Buchbinder, David, Cattoni, Alessandro, Chernyshova, Liudmyla, Ciznar, Peter, Cole, Theresa, Czogała, Wojciech, Dueckers, Gregor, Edgar, John David M., Erbey, Fatih, Fasth, Anders, Ferrua, Francesca, Formankova, Renata, Gambineri, Eleonora, Gennery, Andrew R., Goldman, Frederick D., Gonzalez-Granado, Luis I., Heilmann, Carsten, Heiskanen-Kosma, Tarja, Juntti, Hanna, Kainulainen, Leena, Kanegane, Hirokazu, Karaca, Neslihan E., Kilic, Sara S., Klein, Christoph, Kołtan, Sylwia, Kondratenko, Irina, Meyts, Isabelle, Nasrullayeva, Gulnara M., Notarangelo, Lucia D., Pasic, Srdjan, Pellier, Isabelle, Pignata, Claudio, Misbah, Siraj, Schulz, Ansgar, Segundo, Gesmar R., Shcherbina, Anna, Slatter, Mary, Sokolic, Robert, Soler-Palacin, Pere, Stepensky, Polina, van Montfrans, Joris M., Ryhänen, Samppa, Wolska-Kuśnierz, Beata, Ziegler, John B., Zhao, Xiaodong, Aiuti, Alessandro, Ochs, Hans D., and Albert, Michael H.

Published
2024
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3. Antinuclear antibody–associated autoimmune cytopenia in childhood is a risk factor for systemic lupus erythematosus

Author

Granel, Jérôme, Fernandes, Helder, Bader-Meunier, Brigitte, Guth, Amandine, Richer, Olivier, Pillet, Pascal, Leverger, Guy, Ducassou, Stéphane, Fahd, Mony, Pasquet, Marlène, Garnier, Nathalie, Barlogis, Vincent, Guitton, Corinne, Jeziorski, Eric, Thomas, Caroline, Bayart, Sophie, Cheikh, Nathalie, Paillard, Catherine, Abou Chahla, Wadih, Chastagner, Pascal, Neven, Bénédicte, Millot, Frédéric, Lejeune, Julien, Li-Thiao Te, Valérie, Armari-Alla, Corinne, Briandet, Claire, Carausu, Liana, Deparis, Marianna, Piguet, Christophe, Benadiba, Joy, Marie-Cardine, Aude, Stephan, Jean-Louis, Pellier, Isabelle, Pluchart, Claire, Doré, Eric, Michaux, Katell, Héritier, Sébastien, Leblanc, Thierry, and Aladjidi, Nathalie

Published
2024
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4. Determinants of long-term outcomes of splenectomy in pediatric autoimmune cytopenias

Author

Pincez, Thomas, Aladjidi, Nathalie, Héritier, Sébastien, Garnier, Nathalie, Fahd, Mony, Abou Chahla, Wadih, Fernandes, Helder, Dichamp, Claire, Ducassou, Stéphane, Pasquet, Marlène, Bayart, Sophie, Moshous, Despina, Cheikh, Nathalie, Paillard, Catherine, Plantaz, Dominique, Jeziorski, Eric, Thomas, Caroline, Guitton, Corinne, Deparis, Marianna, Marie Cardine, Aude, Stephan, Jean-Louis, Pellier, Isabelle, Doré, Eric, Benadiba, Joy, Pluchart, Claire, Briandet, Claire, Barlogis, Vincent, Leverger, Guy, and Leblanc, Thierry

Published
2022
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5. Childhood Langerhans cell histiocytosis hematological involvement: severity associated with BRAFV600Eloads

Author

Thalhammer, Julian, Jeziorski, Eric, Marec-Bérard, Perrine, Barkaoui, Mohamed Aziz, Pagnier, Anne, Rohrlich, Pierre-Simon, Chevallier, Aurore, Carausu, Liana, Aladjidi, Nathalie, Rigaud, Charlotte, Leruste, Amaury, Azarnoush, Saba, Lauvray, Thomas, Le Louet, Solenne, Gandemer, Virginie, Treguier, Pauline, Mansuy, Ludovic, Pasquet, Marlene, Olivier, Laura, Rome, Angélique, Saultier, Paul, Isfan, Fiorentina, Renard, Cécile, Li Thiao Te, Valerie, Salmon, Alexandra, Blanc, Laurence, Abou Chahla, Wadih, Lambilliotte, Anne, Stephan, Jean-Louis, Geissmann, Frederic, Lejeune, Julien, Mallebranche, Coralie, Reguerre, Yves, Grain, Audrey, Thomas, Caroline, Hélias-Rodzewicz, Zofia, Moshous, Despina, Fenneteau, Odile, Coulomb-L’Hermine, Aurore, Lapillonne, Hélène, de Saint-Basile, Geneviève, Emile, Jean-François, Héritier, Sébastien, Donadieu, Jean, Devoldere, Catherine, Gourmel, Antoine, Lutun, Anne, Leglise, Sophie, Pellier, Isabelle, Proust, Stéphanie, Cheikh, Nathalie, Klein, Sébastien, Simon, Pauline, Verite, Cécile, Miaz, Leila, Bodet, Damien, Deparis, Marianna, Gaudichon, Jérémie, Dore, Eric, Kanold, Justyna, Briandet, Claire, Desplantes, Claire, Neuman, Florent, Adjaoud, Dalila, Armari-Alla, Corinne, Plantaz, Dominique, Perret, Cécile, Bruno, Bénedicte, Nelken, Brigitte, Piguet, Christophe, Bertrand, Yves, Garnier, Nathalie, Kebaili, Kamila, Ouachee, Marie, Coze, Carole, Curtillet, Catherine, Gentet, Jean-Claude, Michel, Gérard, Galambrun, Claire, Chastagner, Pascal, Boutroux, Hélène, Landman-Parker, Judith, Bodak, Nathalie, Leverger, Guy, Petit, Arnaud, Simonin, Mathieu, Tabone, Marie-Dominique, Bader-Meunier, Brigitte, Blanche, Stéphane, Castelle, Martin, Neven, Bénédicte, Bodemer, Christine, Perrin, Olivia Boccara, Aerts, Isabelle, Orbach, Daniel, Bourdeaut, Franck, Brugieres, Laurence, Dufour, Christelle, Minard, Véronique, Valteau-Couanet, Dominique, Blanc, Laurence, Millot, Frédéric, Guimard, Grégory, Pluchart, Claire, Bonneau, Jacinthe, Chappe, Céline, Taque, Sophie, Pertuisel, Sophie, Gandemer, Virginie, Probert, Jamie, Puiseux, Chloé, Buchbinder, Nimrod, Dumesnil, Cécile, Filhon, Bruno, Marie-Cardine, Aude, Schneider, Pascale, Berger, Claire, Thouvenin-Doulet, Sandrine, Entz-Werle, Natacha, Paillard, Catherine, Spiegel, Alexandra, Plat, Geneviève, Blouin, Pascale, Jourdain, Anne, Yvert-Guillebert, Marion, Jehanne, Mathilde, Benadiba, Joy, Soler, Christine, Poiree, Maryline, Haouy, Stéphanie, Sirvent, Nicolas, and Saumet, Laure

Abstract

•LCH-HI is life threatening, defined as hemoglobin ≤7 g/dL and/or platelets ≤20 × 109/L.•LCH-HI severity, associated with BRAFV600Evariant and macrophage activation, may require early MAPK inhibitors.

Published
2025
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6. Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes

Author

Hadjadj, Jérôme, Aladjidi, Nathalie, Fernandes, Helder, Leverger, Guy, Magérus-Chatinet, Aude, Mazerolles, Fabienne, Stolzenberg, Marie-Claude, Jacques, Sidonie, Picard, Capucine, Rosain, Jérémie, Fourrage, Cécile, Hanein, Sylvain, Zarhrate, Mohammed, Pasquet, Marlène, Abou Chahla, Wadih, Barlogis, Vincent, Bertrand, Yves, Pellier, Isabelle, Colomb Bottollier, Elodie, Fouyssac, Fanny, Blouin, Pascale, Thomas, Caroline, Cheikh, Nathalie, Dore, Eric, Pondarre, Corinne, Plantaz, Dominique, Jeziorski, Eric, Millot, Frédéric, Garcelon, Nicolas, Ducassou, Stéphane, Perel, Yves, Leblanc, Thierry, Neven, Bénédicte, Fischer, Alain, and Rieux-Laucat, Frédéric

Published
2019
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7. Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond–like syndrome

Author

Bellanné-Chantelot, Christine, Schmaltz-Panneau, Barbara, Marty, Caroline, Fenneteau, Odile, Callebaut, Isabelle, Clauin, Séverine, Docet, Aurélie, Damaj, Gandhi-Laurent, Leblanc, Thierry, Pellier, Isabelle, Stoven, Cécile, Souquere, Sylvie, Antony-Debré, Iléana, Beaupain, Blandine, Aladjidi, Nathalie, Barlogis, Vincent, Bauduer, Frédéric, Bensaid, Philippe, Boespflug-Tanguy, Odile, Berger, Claire, Bertrand, Yves, Carausu, Liana, Fieschi, Claire, Galambrun, Claire, Schmidt, Aline, Journel, Hubert, Mazingue, Françoise, Nelken, Brigitte, Quah, Thuan Chong, Oksenhendler, Eric, Ouachée, Marie, Pasquet, Marlène, Saada, Véronique, Suarez, Felipe, Pierron, Gérard, Vainchenker, William, Plo, Isabelle, and Donadieu, Jean

Published
2018
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8. A landscape of germ line mutations in a cohort of inherited bone marrow failure patients

Author

Bluteau, Olivier, Sebert, Marie, Leblanc, Thierry, Peffault de Latour, Régis, Quentin, Samuel, Lainey, Elodie, Hernandez, Lucie, Dalle, Jean-Hugues, Sicre de Fontbrune, Flore, Lengline, Etienne, Itzykson, Raphael, Clappier, Emmanuelle, Boissel, Nicolas, Vasquez, Nadia, Da Costa, Mélanie, Masliah-Planchon, Julien, Cuccuini, Wendy, Raimbault, Anna, De Jaegere, Louis, Adès, Lionel, Fenaux, Pierre, Maury, Sébastien, Schmitt, Claudine, Muller, Marc, Domenech, Carine, Blin, Nicolas, Bruno, Bénédicte, Pellier, Isabelle, Hunault, Mathilde, Blanche, Stéphane, Petit, Arnaud, Leverger, Guy, Michel, Gérard, Bertrand, Yves, Baruchel, André, Socié, Gérard, and Soulier, Jean

Published
2018
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9. Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations

Author

Miot, Charline, Imai, Kohsuke, Imai, Chihaya, Mancini, Anthony J., Kucuk, Zeynep Yesim, Kawai, Tokomki, Nishikomori, Ryuta, Ito, Etsuro, Pellier, Isabelle, Dupuis Girod, Sophie, Rosain, Jeremie, Sasaki, Shinya, Chandrakasan, Shanmuganathan, Pachlopnik Schmid, Jana, Okano, Tsubasa, Colin, Estelle, Olaya-Vargas, Alberto, Yamazaki-Nakashimada, Marco, Qasim, Waseem, Espinosa Padilla, Sara, Jones, Andrea, Krol, Alfons, Cole, Nyree, Jolles, Stephen, Bleesing, Jack, Vraetz, Thomas, Gennery, Andrew R., Abinun, Mario, Güngör, Tayfun, Costa-Carvalho, Beatriz, Condino-Neto, Antonio, Veys, Paul, Holland, Steven M., Uzel, Gulbu, Moshous, Despina, Neven, Benedicte, Blanche, Stéphane, Ehl, Stephan, Döffinger, Rainer, Patel, Smita Y., Puel, Anne, Bustamante, Jacinta, Gelfand, Erwin W., Casanova, Jean-Laurent, Orange, Jordan S., and Picard, Capucine

Published
2017
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10. Cardiac and Vascular Risks Are the Essential Parameters for Long-Term Surveillance of Lower Risk Childhood Acute Leukemia Survivors

Author

Saultier, Paul, primary, El Riachy, Nour, additional, Bertrand, Yves, additional, Tabone, Marie-Dominique, additional, Leverger, Guy, additional, Dalle, Jean-Hugues, additional, Baruchel, Andre, additional, Pochon, Cecile, additional, Paillard, Catherine, additional, Ducassou, Stephane, additional, Poiree, Marilyne, additional, Plantaz, Dominique, additional, Kanold, Justyna, additional, Gandemer, Virginie, additional, Sirvent, Nicolas, additional, Plat, Genevieve, additional, Pellier, Isabelle, additional, Reguerre, Yves, additional, Thouvenin, Sandrine, additional, Petit, Audrey Françoise, additional, Auquier, Pascal, additional, Berbis, Julie, additional, and Michel, Gerard, additional

Published
2022
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12. Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency)

Author

Schmid, Jana Pachlopnik, Canioni, Danielle, Moshous, Despina, Touzot, Fabien, Mahlaoui, Nizar, Hauck, Fabian, Kanegane, Hirokazu, Lopez-Granados, Eduardo, Mejstrikova, Ester, Pellier, Isabelle, Galicier, Lionel, Galambrun, Claire, Barlogis, Vincent, Bordigoni, Pierre, Fourmaintraux, Alain, Hamidou, Mohamed, Dabadie, Alain, Le Deist, Françoise, Haerynck, Filomeen, Ouachée-Chardin, Marie, Rohrlich, Pierre, Stephan, Jean-Louis, Lenoir, Christelle, Rigaud, Stéphanie, Lambert, Nathalie, Milili, Michèle, Schiff, Claudin, Chapel, Helen, Picard, Capucine, de Saint Basile, Geneviève, Blanche, Stéphane, Fischer, Alain, and Latour, Sylvain

Published
2011
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13. X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options

Author

Albert, Michael H., Bittner, Tanja C., Nonoyama, Shigeaki, Notarangelo, Lucia Dora, Burns, Siobhan, Imai, Kohsuke, Espanol, Teresa, Fasth, Anders, Pellier, Isabelle, Strauss, Gabriele, Morio, Tomohiro, Gathmann, Benjamin, Noordzij, Jeroen G., Fillat, Cristina, Hoenig, Manfred, Nathrath, Michaela, Meindl, Alfons, Pagel, Philipp, Wintergerst, Uwe, Fischer, Alain, Thrasher, Adrian J., Belohradsky, Bernd H., and Ochs, Hans D.

Published
2010
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14. Pediatric-Onset Evans Syndrome Is Associated with Broad Immunopathological Manifestations, High Treatment Burden and Mortality in Long-Term Follow-up

Author

Pincez, Thomas, Fernandes, Helder, Leblanc, Thierry, Michel, Gérard, Barlogis, Vincent, Bertrand, Yves, Neven, Bénédicte, Abou Chahla, Wadih, Pasquet, Marlène, Guitton, Corinne, Marie-Cardine, Aude, Pellier, Isabelle, Armari-Alla, Corinne, Benadiba, Joy, Blouin, Pascale, Jeziorski, Eric, Millot, Frederic, Paillard, Catherine, Thomas, Caroline, Cheikh, Nathalie, Bayard, Sophie, Fouyssac, Fanny, Piguet, Christophe, Deparis, Mariana, Briandet, Claire, Doré, Eric, Landman-Parker, Judith, Leverger, Guy, and Aladjidi, Nathalie

Published
2020
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15. Alemtuzumab as First Line Treatment in Children with Familial Lymphohistiocytosis

Author

Moshous, Despina, primary, Briand, Coralie, primary, Castelle, Martin, primary, Dupic, Laurent, primary, Morelle, Guillaume, primary, Abou Chahla, Wadih, primary, Barlogis, Vincent, primary, Bertrand, Yves, primary, Bruno, Bénédicte, primary, Jeziorski, Eric, primary, Paillard, Catherine, primary, Rohrlich, Pierre Simon, primary, Stephan, Jean Louis, primary, Thomas, Caroline, primary, Chhun, Stéphanie, primary, Pellier, Isabelle, primary, Marie-Cardine, Aude, primary, Fusaro, Mathieu, primary, de Saint Basile, Genevieve, primary, Picard, Capucine, primary, Elie, Caroline, primary, Neven, Benedicte, primary, Blanche, Stephane, primary, and Fischer, Alain, primary

Published
2019
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16. Mutations in SRP54 Gene Cause Severe Primary Neutropenia As Well As Shwachman-Diamond-like Syndrome

Author

Bellanné-Chantelot, Christine, primary, Marty, Caroline, additional, Schmaltz-Panneau, Barbara, additional, Fenneteau, Odile, additional, Callebaut, Isabelle, additional, Clauin, Séverine, additional, Docet, Aurélie, additional, Damaj, Gandhi, additional, Leblanc, Thierry, additional, Pellier, Isabelle, additional, Stoven, Cécile, additional, Souquere, Sylvie, additional, Antony-Debre, Iléana, additional, Beaupain, Blandine, additional, Aladjidi, Nathalie, additional, Barlogis, Vincent, additional, Bauduer, Frederic, additional, Bensaid, Philippe, additional, Boesflug-Tanguy, Odile, additional, Berger, Claire, additional, Bertrand, Yves, additional, Carausu, Liana, additional, Fieschi, Claire, additional, Galambrun, Claire, additional, Schmidt, Aline, additional, Journel, Hubert, additional, Mazingue, Francoise, additional, Nelken, Brigitte, additional, Quah, Thuan Chong, additional, Oksenhendler, Eric, additional, Ouachee, Marie, additional, Pasquet, Marlène, additional, Suarez, Felipe, additional, Pierron, Gérard, additional, Vainchenker, William, additional, Plo, Isabelle, additional, and Donadieu, Jean, additional

Published
2017
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17. Wiskott-Aldrich Syndrome: A Retrospective Study on 575 Patients Analyzing the Impact of Splenectomy, Stem Cell Transplantation, or No Definitive Treatment on Frequency of Disease-Related Complications and Physician-Perceived Quality of Life

Author

Glasmacher, Jannik S, primary, Bittner, Tanja C, additional, Ochs, Hans D, additional, Aiuti, Alessandro, additional, Arkwright, Peter D, additional, Balashov, Dmitry, additional, Behrends, Uta, additional, Belohradsky, Bernd H., additional, Bertoni, Elisa, additional, Buchbinder, David K., additional, Browning, Michael, additional, Bondarenko, Anastasiia, additional, Candotti, Fabio, additional, Cattoni, Alessandro, additional, Chernyshova, Liudmyla, additional, Chewning, Joseph H., additional, Ciznar, Peter, additional, Cole, Theresa, additional, Costa-Carvalho, Beatriz T, additional, Czogala, Wojciech, additional, Dueckers, Gregor, additional, Edgar, David M, additional, Erbey, Fatih, additional, Fasth, Anders, additional, Formankova, Renata, additional, Freiberger, Tomas, additional, Gambineri, Eleonora, additional, Gennery, Andrew, additional, Goldman, Frederick D, additional, Gonzalez-Granado, Luis I, additional, Gulmaraes, Tiago N, additional, Hagin, David, additional, Hauck, Fabian, additional, Heiskanen-Kosma, Tarja, additional, Hoenig, Manfred, additional, Juntti, Hanna, additional, Kanegane, Hirokazu, additional, Kainulainen, Leena, additional, Karaca, Neslihan E, additional, Kilic, Sara S, additional, Klein, Christoph, additional, Koltan, Sylwia, additional, Kondratenko, Irina, additional, Liu, Dawei, additional, Matthes, Susanne, additional, Mazzucchelli, Juliana T L, additional, Meyts, Isabelle, additional, Misbah, Siraj, additional, Nademi, Zohreh, additional, Nasrullayeva, Gulnara, additional, Notarangelo, Lucia D, additional, Soler-Palacin, Pere, additional, Pashchenko, Olga, additional, Pasic, Srdjan, additional, Pellier, Isabelle, additional, Pignata, Claudio, additional, Roepstorff, Camilla, additional, Schuetz, Catharina, additional, Schulz, Ansgar S, additional, Segundo, Gesmar R S, additional, Shcherbina, Anna, additional, Smart, Joanne, additional, Sokolic, Robert A., additional, Stepensky, Polina, additional, Torgerson, Troy, additional, Vakhlyarskaya, Svetlana, additional, van Montfrans, Joris, additional, Vettenranta, Kim, additional, Wolska-Kusnierz, Beata, additional, Zhao, Xiaodong, additional, Ziegler, John B, additional, Zhang, Xuan, additional, and Albert, Michael H., additional

Published
2016
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18. Determinants of splenectomy long-term outcomes in pediatric autoimmune cytopenias

Author

Pincez, Thomas, Aladjidi, Nathalie, Héritier, Sébastien, Garnier, Nathalie, Fahd, Mony, Chahla, Wadih Abou, Fernandes, Helder, Dichamp, Claire, Ducassou, Stéphane, Pasquet, Marlène, Bayart, Sophie, Moshous, Despina, Cheikh, Nathalie, Paillard, Catherine, Plantaz, Dominique, Jeziorski, Eric, Thomas, Caroline, Guitton, Corinne, Deparis, Marianna, Cardine, Aude Marie, Stephan, Jean-Louis, Pellier, Isabelle, Doré, Eric, Benadiba, Joy, Pluchart, Claire, Briandet, Claire, Barlogis, Vincent, Leverger, Guy, and Leblanc, Thierry

Abstract

Splenectomy is effective in ~70-80% of pediatric chronic immune thrombocytopenia (cITP) and few data exist in autoimmune hemolytic anemia (AIHA) and Evans syndrome (ES). Because of the irreversibility of the procedure and the lack of predictor of long-term outcomes, splenectomy decision is difficult to take in children. We report here factors associated with splenectomy outcomes from the OBS'CEREVANCE cohort, which prospectively includes French children with autoimmune cytopenia (AIC) since 2004. The primary outcome was failure-free survival (FFS), defined as the time from splenectomy to the initiation of a second-line treatment (other than steroids and intravenous immunoglobulins) or death. We included 161 patients (cITP n = 120, AIHA n = 19, ES n = 22) with a median (min-max) follow-up of 6.8 years (1.0-33.3) after splenectomy. AIC subtype was not associated with FFS. We found that immunopathological manifestations (IMs) were strongly associated with unfavorable outcomes. Diagnosis of an IM before splenectomy was associated with a lower FFS (hazard ratio [HR] 0.39, 95% confidence interval [CI] 0.21-0.72, p= 0.003, adjusted for AIC subtype). Diagnosis of an IM at any timepoint during follow-up was associated with an even lower FFS (HR 0.22, 95% CI 0.12-0.39, p= 2.8x10-7, adjusted for AIC subtype) as well as with higher risk of recurrent or severe bacterial infections and thrombosis. In conclusion, our results support the search for associated IMs when considering a splenectomy to refine the risk-benefit ratio. After the procedure, monitoring IMs helps to identify patients with higher risk of unfavorable outcomes.

Published
2024
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19. Wiskott-Aldrich syndrome: a retrospective study of 577 patients defines the genotype as a predictive biomarker for disease severity and survival

Author

Vallée, Tanja C., Glasmacher, Jannik S., Buchner, Hannes, Arkwright, Peter D., Behrends, Uta, Bondarenko, Anastasia, Browning, Michael J., Buchbinder, David, Cattoni, Alessandro, Chernyshova, Liudmyla, Ciznar, Peter, Cole, Theresa, Czogała, Wojciech, Dueckers, Gregor, Edgar, John David M., Erbey, Fatih, Fasth, Anders, Ferrua, Francesca, Formankova, Renata, Gambineri, Eleonora, Gennery, Andrew R., Goldman, Frederick D., Gonzalez-Granado, Luis I., Heilmann, Carsten, Heiskanen-Kosma, Tarja, Juntti, Hanna, Kainulainen, Leena, Kanegane, Hirokazu, Karaca, Neslihan E., Sebnem Kilic, Sara, Klein, Christoph, Kołtan, Sylwia, Kondratenko, Irina, Meyts, Isabelle, Nasrullayeva, Gulnara M., Notarangelo, Lucia D., Pasic, Srdjan, Pellier, Isabelle, Pignata, Claudio, Misbah, Siraj, Schulz, Ansgar, Segundo, Gesmar R., Shcherbina, Anna, Slatter, Mary, Sokolic, Robert, Soler-Palacin, Pere, Stepensky, Polina, van Montfrans, Joris M., Ryhänen, Samppa, Wolska-Kuśnierz, Beata, Ziegler, John B., Zhao, Xiaodong, Aiuti, Alessandro, Ochs, Hans D., and Albert, Michael H.

Abstract

•The type of genetic variant is a predictive biomarker for disease severity and survival in WAS.•Patients with less severe variants experience a later onset of disease-related complications but remain prone to morbidity and premature mortality.

Published
2024
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20. Updated Clinical Activity of Graspa Versus Native l-Asparaginase in Combination with Cooprall Regimen in Phase 3 Randomized Trial in Patients with Relapsed Acute Lymphoblastic Leukemia (NCT01518517)

Author

Baruchel, Andre, primary, Bertrand, Yves, additional, Thomas, Xavier, additional, Blin, Nicolas, additional, Tavernier, Emmanuelle, additional, Ducassou, Stephane, additional, Vey, Norbert, additional, Gandemer, Virginie, additional, Cacheux, Victoria, additional, Mazingue, Francoise, additional, Raffoux, Emmanuel, additional, PLAT, Genevieve, additional, Fernandes, Jose, additional, Maryline, Poiree, additional, Fornecker, Luc, additional, Stephan, Jean-Louis, additional, Hunault, Mathilde, additional, Auvrignon, Anne, additional, Leguay, Thibault, additional, Plantaz, Dominique, additional, Lepretre, Stephane, additional, Ferster, Alina, additional, Pellier, Isabelle, additional, Plouvier, Emmanuel, additional, Schmitt, Claudine, additional, Bonin, Cecile, additional, and El Hariry, Iman, additional

Published
2015
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21. Pharmacokinetic and Pharmacodynamic Characterization of Graspa Versus Native L-Asparaginase in Combination with Cooprall Chemotherapy in a Phase 3 Randomized Trial for the Treatment of Patients with Relapsed Acute Lymphoblastic Leukemia (NCT01518517)

Author

Thomas, Xavier, primary, Bertrand, Yves, additional, Baruchel, Andre, additional, Blin, Nicolas, additional, Tavernier, Emmanuelle, additional, Ducassou, Stephane, additional, Vey, Norbert, additional, Gandemer, Virginie, additional, Cacheux, Victoria, additional, Mazingue, Francoise, additional, Raffoux, Emmanuel, additional, Plat, Genevieve, additional, Fernandes, Jose, additional, Poiree, Maryline, additional, Fornecker, Luc, additional, Stephan, Jean-Louis, additional, Hunault, Mathilde, additional, Auvrignon, Anne, additional, Leguay, Thibault, additional, Lepretre, Stephane, additional, Ferster, Alina, additional, Pellier, Isabelle, additional, Plouvier, Emmanuel, additional, Schmitt, Claudine, additional, Bonin, Cecile, additional, Godfrin, Yann, additional, and El Hariry, Iman, additional

Published
2015
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22. Evaluation of the Impact of the Presence of Neutralizing L-Asparaginase Antibodies on the Efficacy and Safety of Graspa in Phase 3 Randomized Trial Versus Native L-Asparaginase in Patients with Relapsed Acute Lymphoblastic Leukemia (NCT01518517)

Author

Bertrand, Yves, primary, Baruchel, Andre, additional, Thomas, Xavier, additional, Blin, Nicolas, additional, Tavernier, Emmanuelle, additional, Ducassou, Stephane, additional, Vey, Norbert, additional, Gandemer, Virginie, additional, Cacheux, Victoria, additional, Mazingue, Francoise, additional, Raffoux, Emmanuel, additional, Plat, Genevieve, additional, Fernandes, Jose, additional, Poiree, Maryline, additional, Fornecker, Luc, additional, Stephan, Jean-Louis, additional, Hunault, Mathilde, additional, Auvrignon, Anne, additional, Leguay, Thibault, additional, Plantaz, Dominique, additional, Lepretre, Stephane, additional, Ferster, Alina, additional, Pellier, Isabelle, additional, Plouvier, Emmanuel, additional, Schmitt, Claudine, additional, Bonin, Cecile, additional, Godfrin, Yann, additional, and El Hariry, Iman, additional

Published
2015
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23. Mutations in the SRP54gene cause severe congenital neutropenia as well as Shwachman-Diamond–like syndrome

Author

Bellanné-Chantelot, Christine, Schmaltz-Panneau, Barbara, Marty, Caroline, Fenneteau, Odile, Callebaut, Isabelle, Clauin, Séverine, Docet, Aurélie, Damaj, Gandhi-Laurent, Leblanc, Thierry, Pellier, Isabelle, Stoven, Cécile, Souquere, Sylvie, Antony-Debré, Iléana, Beaupain, Blandine, Aladjidi, Nathalie, Barlogis, Vincent, Bauduer, Frédéric, Bensaid, Philippe, Boespflug-Tanguy, Odile, Berger, Claire, Bertrand, Yves, Carausu, Liana, Fieschi, Claire, Galambrun, Claire, Schmidt, Aline, Journel, Hubert, Mazingue, Françoise, Nelken, Brigitte, Quah, Thuan Chong, Oksenhendler, Eric, Ouachée, Marie, Pasquet, Marlène, Saada, Véronique, Suarez, Felipe, Pierron, Gérard, Vainchenker, William, Plo, Isabelle, and Donadieu, Jean

Abstract

Congenital neutropenias (CNs) are rare heterogeneous genetic disorders, with about 25% of patients without known genetic defects. Using whole-exome sequencing, we identified a heterozygous mutation in the SRP54gene, encoding the signal recognition particle (SRP) 54 GTPase protein, in 3 sporadic cases and 1 autosomal dominant family. We subsequently sequenced the SRP54gene in 66 probands from the French CN registry. In total, we identified 23 mutated cases (16 sporadic, 7 familial) with 7 distinct germ line SRP54mutations including a recurrent in-frame deletion (Thr117del) in 14 cases. In nearly all patients, neutropenia was chronic and profound with promyelocytic maturation arrest, occurring within the first months of life, and required long-term granulocyte colony-stimulating factor therapy with a poor response. Neutropenia was sometimes associated with a severe neurodevelopmental delay (n = 5) and/or an exocrine pancreatic insufficiency requiring enzyme supplementation (n = 3). The SRP54 protein is a key component of the ribonucleoprotein complex that mediates the co-translational targeting of secretory and membrane proteins to the endoplasmic reticulum (ER). We showed that SRP54 was specifically upregulated during the in vitro granulocytic differentiation, and that SRP54mutations or knockdown led to a drastically reduced proliferation of granulocytic cells associated with an enhanced P53-dependent apoptosis. Bone marrow examination of SRP54-mutated patients revealed a major dysgranulopoiesis and features of cellular ER stress and autophagy that were confirmed using SRP54-mutated primary cells and SRP54knockdown cells. In conclusion, we characterized a pathological pathway, which represents the second most common cause of CN with maturation arrest in the French CN registry.

Published
2018
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24. Daunorubicin or Not During the Induction Treatment of Childhood Standard-Risk B-Cell Precursor Acute Lymphoblastic Leukemia (SR-BCP-ALL): The Randomized Fralle 2000-A Protocol

Author

Baruchel, Andre, primary, Petit, Arnaud, additional, Leblanc, Thierry, additional, Michel, Gérard, additional, Perel, Yves, additional, Mechinaud, Francoise, additional, Gandemer, Virginie, additional, Schmitt, Claudine, additional, Schneider, Pascale, additional, Brethon, Benoit, additional, Auvrignon, Anne, additional, Thomas, Caroline, additional, Margueritte, Geneviève, additional, Vermylen, Christiane, additional, Lejars, Odile, additional, Pellier, Isabelle, additional, Berger, Claire, additional, Couillault, Gérard, additional, Paillard, Catherine, additional, Berthou, Christian, additional, Piguet, Christophe, additional, Pautard, Brigitte, additional, Soulier, Jean, additional, Grardel, Nathalie, additional, Beldjord, Kheira, additional, Auclerc, Marie-Francoise, additional, Macintyre, Elizabeth, additional, Cayuela, Jean-Michel, additional, Chevret, Sylvie, additional, and Leverger, Guy, additional

Published
2012
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25. Extended Molecular and Clinical Phenotype of Human G6PC3 Deficiency.

Author

Boztug, Kaan, primary, Rosenberg, Philip S., additional, Böhm, Marie, additional, Moulton, Thomas, additional, Curtin, Julie, additional, Rezaei, Nima, additional, Corns, John, additional, Innis, Jeffrey, additional, Avci, Zekai, additional, Tran, Hung Chi, additional, Pellier, Isabelle, additional, Gatti, Simona, additional, Fruge, Rachel, additional, Parvaneh, Nima, additional, Darbyshire, Phil, additional, Buchanan, George R., additional, Alter, Blanche P, additional, Boxer, Larry, additional, Donadieu, Jean, additional, Welte, Karl, additional, and Klein, Christoph, additional

Published
2010
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26. A Novel Clinical Syndrome Associating Severe Congenital Neutropenia and Complex Developmental Aberrations Caused by Deficiency of G6PC3

Author

Boztug, Kaan, primary, Appaswamy, Giridharan, primary, Ashikov, Angel, primary, Schäffer, Alejandro A, primary, Salzer, Ulrich, primary, Diestelhorst, Jana, primary, Germeshausen, Manuela, primary, Brandes, Gudrun, primary, Lee-Gossler, Jacqueline, primary, Noyan, Fatih, primary, Gatzke, Anna-Katherina, primary, Minkov, Milen, primary, Greil, Johann, primary, Kratz, Christian, primary, Petropoulou, Theoni, primary, Pellier, Isabelle, primary, Bellanne-Chantelot, Christine, primary, Rezaei, Nima, primary, Mönkemöller, Kirsten, primary, Irani-Hakimeh, Noha, primary, Bakker, Hans, primary, Gerardy-Schahn, Rita, primary, Zeidler, Cornelia, primary, Grimbacher, Bodo, primary, Welte, Karl, primary, and Klein, Christoph, primary

Published
2008
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27. Clinical Phenotype and Long Term Outcome in a Large Cohort of X-Linked Thrombocytopenia (XLT)/Mild Wiskott-Aldrich-Syndrome Patients

Author

Albert, Michael H, primary, Bittner, Tanja, additional, Stachel, Daniel, additional, Nonoyama, Shigeaki, additional, Notarangelo, Lucia, additional, Burns, Siobhan, additional, Pellier, Isabelle, additional, Strauss, Gabriele, additional, Morio, Tomohiro, additional, Imai, Kohsuke, additional, Espanol, Teresa, additional, Gathmann, Benjamin, additional, Hönig, Manfred, additional, Noordzij, Jeroen G, additional, Nathrath, Michaela, additional, Meindl, Alfons, additional, Wintergerst, Uwe, additional, Fischer, Alain, additional, Thrasher, Adrian, additional, Belohradsky, Bernd H, additional, and Ochs, Hans D, additional

Published
2008
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28. X-linked thrombocytopenia (XLT) due to WASmutations: clinical characteristics, long-term outcome, and treatment options

Author

Albert, Michael H., Bittner, Tanja C., Nonoyama, Shigeaki, Notarangelo, Lucia Dora, Burns, Siobhan, Imai, Kohsuke, Espanol, Teresa, Fasth, Anders, Pellier, Isabelle, Strauss, Gabriele, Morio, Tomohiro, Gathmann, Benjamin, Noordzij, Jeroen G., Fillat, Cristina, Hoenig, Manfred, Nathrath, Michaela, Meindl, Alfons, Pagel, Philipp, Wintergerst, Uwe, Fischer, Alain, Thrasher, Adrian J., Belohradsky, Bernd H., and Ochs, Hans D.

Abstract

A large proportion of patients with mutations in the Wiskott-Aldrich syndrome (WAS) protein gene exhibit the milder phenotype termed X-linked thrombocytopenia (XLT). Whereas stem cell transplantation at an early age is the treatment of choice for patients with WAS, therapeutic options for patients with XLT are controversial. In a retrospective multicenter study we defined the clinical phenotype of XLT and determined the probability of severe disease-related complications in patients older than 2 years with documented WASgene mutations and mild-to-moderate eczema or mild, infrequent infections. Enrolled were 173 patients (median age, 11.5 years) from 12 countries spanning 2830 patient-years. Serious bleeding episodes occurred in 13.9%, life-threatening infections in 6.9%, autoimmunity in 12.1%, and malignancy in 5.2% of patients. Overall and event-free survival probabilities were not significantly influenced by the type of mutation or intravenous immunoglobulin or antibiotic prophylaxis. Splenectomy resulted in increased risk of severe infections. This analysis of the clinical outcome and molecular basis of patients with XLT shows excellent long-term survival but also a high probability of severe disease-related complications. These observations will allow better decision making when considering treatment options for individual patients with XLT.

Published
2010
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29. Mutations in SRP54Gene Cause Severe Primary Neutropenia As Well As Shwachman-Diamond-like Syndrome

Author

Bellanné-Chantelot, Christine, Marty, Caroline, Schmaltz-Panneau, Barbara, Fenneteau, Odile, Callebaut, Isabelle, Clauin, Séverine, Docet, Aurélie, Damaj, Gandhi, Leblanc, Thierry, Pellier, Isabelle, Stoven, Cécile, Souquere, Sylvie, Antony-Debre, Iléana, Beaupain, Blandine, Aladjidi, Nathalie, Barlogis, Vincent, Bauduer, Frederic, Bensaid, Philippe, Boesflug-Tanguy, Odile, Berger, Claire, Bertrand, Yves, Carausu, Liana, Fieschi, Claire, Galambrun, Claire, Schmidt, Aline, Journel, Hubert, Mazingue, Francoise, Nelken, Brigitte, Quah, Thuan Chong, Oksenhendler, Eric, Ouachee, Marie, Pasquet, Marlène, Suarez, Felipe, Pierron, Gérard, Vainchenker, William, Plo, Isabelle, and Donadieu, Jean

Abstract

Context.Congenital neutropenia (CN) is a heterogeneous group of diseases characterized by low neutrophil count, severe bacterial infections, increased risk of leukemic transformation and various extra-hematopoietic organ dysfunctions. Even if 24 different genes have been linked to the etiology of CN, in many patients the genetic causes of CN remain unknown.

Published
2017
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