Search Results - Isabelle Pellier

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  1. 1
    Inherited and Somatic<i>CD3</i>ζ Mutations in a Patient with T-Cell Deficiency

    Inherited and Somatic<i>CD3</i>ζ Mutations in a Patient with T-Cell Deficiency by Frédéric Rieux‐Laucat, Claire Hivroz, Apiradee Lim, Véronique Mateo, Isabelle Pellier, Françoise Selz, Alain Fischer, Françoise Le Deist

    Published 2006
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  2. 2
    Characteristics and outcome of early-onset, severe forms of Wiskott-Aldrich syndrome

    Characteristics and outcome of early-onset, severe forms of Wiskott-Aldrich syndrome by Nizar Mahlaoui, Isabelle Pellier, Cyril Mignot, Jean‐Philippe Jaïs, Chrystèle Bilhou‐Nabera, Despina Moshous, Bénédicte Neven, Capucine Pïcard, Geneviève de Saint Basile, Marina Cavazzana, Stéphane Blanche, Alain Fischer

    Published 2012
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  3. 3
    Economic evaluation of immunoglobulin replacement in patients with primary antibody deficiencies

    Economic evaluation of immunoglobulin replacement in patients with primary antibody deficiencies by Julien Beauté, Patrick Lévy, V. Millet, Marianne Debré, Yasmine Dudoit, Loïc Le Mignot, Ayden Tajahmady, Caroline Thomas, Felipe Suárez, Isabelle Pellier, Olivier Hermine, Nathalie Aladjidi, Nizar Mahlaoui, Alain Fischer

    Published 2009
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  4. 4
    Live rubella virus vaccine long-term persistence as an antigenic trigger of cutaneous granulomas in patients with primary immunodeficiency

    Live rubella virus vaccine long-term persistence as an antigenic trigger of cutaneous granulomas in patients with primary immunodeficiency by Christine Bodemer, Virginie Sauvage, Nizar Mahlaoui, Justine Cheval, Thérèse Couderc, Stéphanie Leclerc‐Mercier, Marianne Debré, Isabelle Pellier, Léa Gagnieur, Sylvie Fraïtag, Alain Fischer, Stéphane Blanche, Marc Lecuit, Marc Éloit

    Published 2014
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  5. 5
    Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French severe congenital neutropenia registry

    Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French severe congenital neutropenia registry by Claire Desplantes, Marie Louise Fremond, Blandine Beaupain, Jean Luc Harousseau, Agnès Buzyn, Isabelle Pellier, G. Roques, P Morville, Catherine Paillard, Julie Bruneau, Lucile Pinson, Éric Jeziorski, Jean Pierre Vannier, Capucine Pïcard, Florence Bellanger, Norma B. Romero, Loïc de Pontual, Hélène Lapillonne, Patrick Lutz, Christine bellanne Chantelot, Jean Donadieu

    Published 2014
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  6. 6
    Rapid identification and characterization of infected cells in blood during chronic active Epstein-Barr virus infection

    Rapid identification and characterization of infected cells in blood during chronic active Epstein-Barr virus infection by Benjamin Fournier, David Boutboul, Julie Bruneau, Charline Miot, Cécile Boulanger, Marion Malphettes, Isabelle Pellier, Bertrand Dunogué, Benjamin Terrier, Felipe Suárez, Stéphane Blanche, Martin Castelle, Sarah Winter, Henri‐Jacques Delecluse, Thierry Jo Molina, Capucine Pïcard, Stephan Ehl, Despina Moshous, Lionel Galicier, Vincent Barlogis, Alain Fischer, Bénédicte Neven, Sylvain Latour

    Published 2020
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  7. 7
    X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options

    X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options by Michael H. Albert, Tanja Bittner, Shigeaki Nonoyama, Lucia Dora Notarangelo, Siobhán O. Burns, Kohsuke Imai, Teresa Español, Anders Fasth, Isabelle Pellier, Gabriele Strauß, Tomohiro Morio, Benjamin Gathmann, Jeroen G. Noordzij, Cristina Fillat, Manfred Hoenig, Michaela Nathrath, Alfons Meindl, Philipp Pagel, Uwe Wintergerst, Alain Fischer, Adrian J. Thrasher, Bernd H. Belohradsky, Hans D. Ochs

    Published 2010
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  8. 8
    A Syndrome with Congenital Neutropenia and Mutations in<i>G6PC3</i>

    A Syndrome with Congenital Neutropenia and Mutations in<i>G6PC3</i> by Kaan Boztuğ, Giridharan Appaswamy, Angel Ashikov, Alejandro A. Schäffer, Ulrich Salzer, Jana Diestelhorst, Manuela Germeshausen, Gudrun Brandes, Jacqueline Lee-Gossler, Fatih Noyan, Anna-Katherina Gatzke, Milen Minkov, Johann Greil, Christian P. Kratz, Theoni Petropoulou, Isabelle Pellier, Christine Bellanné‐Chantelot, Nima Rezaei, Kirsten Mönkemöller, Noha Irani-Hakimeh, Hans Bakker, Rita Gerardy‐Schahn, Cornelia Zeidler, Bodo Grimbacher, Karl Welte, Christoph Klein

    Published 2008
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  9. 9
    Evans Syndrome in Children: Long-Term Outcome in a Prospective French National Observational Cohort

    Evans Syndrome in Children: Long-Term Outcome in a Prospective French National Observational Cohort by Nathalie Aladjidi, Helder Fernandes, Thierry Leblanc, Amélie Vareliette, Frédéric Rieux‐Laucat, Yves Bertrand, Hérvè Chambost, Marlène Pasquet, Françoise Mazingue, Corinne Guitton, Isabelle Pellier, Françoise Roqueplan-Bellmann, Corinne Armari‐Alla, Caroline Thomas, Aude Marie‐Cardine, Odile Lejars, Fanny Fouyssac, Sophie Bayart, Patrick Lutz, Christophe Piguet, Éric Jeziorski, Pierre‐Simon Rohrlich, Philippe Lemoine, Damien Bodet, Catherine Paillard, Gérard Couillault, Frédéric Millot, Alain Fischer, Yves Pérel, Guy Leverger

    Published 2015
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  10. 10
    Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency)

    Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency) by Jana Pachlopnik Schmid, Danielle Canioni, Despina Moshous, Fabien Touzot, Nizar Mahlaoui, Fabian Hauck, Hirokazu Kanegane, Eduardo López‐Granados, Ester Mejstříková, Isabelle Pellier, Lionel Galicier, Claire Galambrun, Vincent Barlogis, Pierre Bordigoni, A Fourmaintraux, M. Hamidou, A. Dabadie, Françoise Le Deist, Filomeen Haerynck, O Marie, Pierre‐Simon Rohrlich, Jean-Louis Stéphan, Christelle Lenoir, Stéphanie Rigaud, Nathalie Lambert, Michèle Milili, Claudin Schiff, Helen Chapel, Capucine Pïcard, Geneviève de Saint Basile, Stéphane Blanche, Alain Fischer, Sylvain Latour

    Published 2010
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  11. 11
    Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes

    Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes by Jérôme Hadjadj, Nathalie Aladjidi, Helder Fernandes, Guy Leverger, Aude Magérus‐Chatinet, Fabienne Mazerolles, Marie–Claude Stolzenberg, Sidonie Jacques, Capucine Pïcard, Jérémie Rosain, Cécile Fourrage, Sylvain Hanein, Mohammed Zarhrate, Marlène Pasquet, Wadih Abou Chahla, Vincent Barlogis, Yves Bertrand, Isabelle Pellier, Elodie Colomb Bottollier, Fanny Fouyssac, Pascale Blouin, Caroline Thomas, Nathalie Cheikh, Éric Doré, Corinne Pondarré, Dominique Plantaz, Éric Jeziorski, Frédéric Millot, Nicolas Garcelon, Stéphane Ducassou, Yves Pérel, Thierry Leblanc, Bénédicte Neven, Alain Fischer, Frédéric Rieux‐Laucat

    Published 2019
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  12. 12
    Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency

    Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency by Michael J. Ciancanelli, Sarah X.L. Huang, Priya Luthra, Hannah Garner, Yuval Itan, Stefano Volpi, Fabien G. Lafaille, Céline Trouillet, Mirco Schmolke, Randy A. Albrecht, Elisabeth Israelsson, Hye Kyung Lim, Melina Casadio, Tamar Hermesh, Lazaro Lorenzo, Lawrence W. Leung, Vincent Pedergnana, Bertrand Boisson, Satoshi Okada, Capucine Pïcard, B. Ringuier, Françoise Troussier, Damien Chaussabel, Laurent Abel, Isabelle Pellier, Luigi D. Notarangelo, Adolfo García‐Sastre, Christopher F. Basler, Frédéric Geissmann, Shen‐Ying Zhang, Hans-Willem Snoeck, Jean‐Laurent Casanova

    Published 2015
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  13. 13
    Invasive Pneumococcal Disease in Children Can Reveal a Primary Immunodeficiency

    Invasive Pneumococcal Disease in Children Can Reveal a Primary Immunodeficiency by Jean Gaschignard, Corinne Lévy, Maya Chrabieh, Bertrand Boisson, C. Bost-Bru, Stéphane Dauger, François Dubos, Philippe Durand, J. Gaudelus, D Gendrel, Christèle Gras‐Le Guen, E. Grimprel, G. Guyon, C. Jeudy, Éric Jeziorski, Francis Leclerc, Pierre-Louis Léger, Fabrice Lesage, Mathie Lorrot, Isabelle Pellier, Didier Pinquier, Loïc de Pontual, P. Sachs, Caroline Thomas, Pierre Tissières, Frédéric V. Valla, P Desprez, Véronique Frémeaux‐Bacchi, Emmanuelle Varon, Xavier Bossuyt, Robert Cohen, Laurent Abel, Jean‐Laurent Casanova, Anne Puel, Capucine Pïcard

    Published 2014
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  14. 14
    Incidence and risk factors for clinical neurodegenerative Langerhans cell histiocytosis: a longitudinal cohort study

    Incidence and risk factors for clinical neurodegenerative Langerhans cell histiocytosis: a longitudinal cohort study by Sebastien Héritier, Mohamed‐Aziz Barkaoui, Jean Miron, Caroline Thomas, Despina Moshous, Anne Lambilliotte, Françoise Mazingue, Kamila Kébaïli, Éric Jeziorski, Geneviève Plat, Nathalie Aladjidi, Hélène Pacquement, Claire Galambrun, Laurence Brugières, Guy Leverger, L Mansuy, Catherine Paillard, Anne Deville, Anne Pagnier, Anne Lutun, Marion Gillibert‐Yvert, Jean-Louis Stéphan, F. Cohen Aubart, Julien Haroche, Isabelle Pellier, Frédéric Millot, Virginie Gandemer, N. Martin–Duverneuil, Valérie Taly, Zofia Hélias‐Rodzewicz, Jean‐François Emile, Khê Hoang‐Xuan, Ahmed Idbaïh, Jean Donadieu

    Published 2018
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  15. 15
    A landscape of germ line mutations in a cohort of inherited bone marrow failure patients

    A landscape of germ line mutations in a cohort of inherited bone marrow failure patients by Olivier Bluteau, Marie Sébert, Thierry Leblanc, Régis Peffault de Latour, Samuel Quentin, Élodie Lainey, Lucie Hernandez, Jean‐Hugues Dalle, Flore Sicre de Fontbrune, Étienne Lengliné, Raphaël Itzykson, Emmanuelle Clappier, Nicolas Boissel, Nadia Vasquez, Mélanie Da Costa, Julien Masliah-Planchon, Wendy Cuccuini, Anna Raimbault, Louis De Jaegere, Lionel Adès, Pierre Fenaux, Sébastien Maury, Claudine Schmitt, Marc Müller, Carine Domenech, Nicolas Blin, Bénédicte Bruno, Isabelle Pellier, Mathilde Hunault, Stéphane Blanche, Arnaud Petit, Guy Leverger, Gérard Michel, Yves Bertrand, André Baruchel, Gerard Socié, Jean Soulier

    Published 2017
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  16. 16
    Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond–like syndrome

    Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond–like syndrome by Christine Bellanné‐Chantelot, Barbara Schmaltz-Panneau, Caroline Marty, Odile Fenneteau, Isabelle Callebaut, Séverine Clauin, Aurélie Docet, Gandhi-Laurent Damaj, Thierry Leblanc, Isabelle Pellier, Cécile Stoven, Sylvie Souquère, Iléana Antony‐Debré, Blandine Beaupain, Nathalie Aladjidi, Vincent Barlogis, Frédéric Bauduer, Philippe Bensaïd, Odile Boespflug‐Tanguy, Claire Berger, Yves Bertrand, Liana Carausu, Claire Fieschi, Claire Galambrun, Aline Schmidt, Hubert Journel, Françoise Mazingue, Brigitte Nelken, Thuan Chong Quah, Éric Oksenhendler, Marie Ouachée, Marlène Pasquet, Véronique Saada, Felipe Suárez, Gérard Pierron, William Vainchenker, Isabelle Plo, Jean Donadieu

    Published 2018
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  17. 17
    Molecular and clinicopathologic characterization of pediatric histiocytoses

    Molecular and clinicopathologic characterization of pediatric histiocytoses by Zofia Hélias‐Rodzewicz, Jean Donadieu, Nathalie Terrones, Mohamed‐Aziz Barkaoui, Anne Lambilliotte, Despina Moshous, Caroline Thomas, Saba Azarnoush, Marlène Pasquet, L Mansuy, Nathalie Aladjidi, Éric Jeziorski, Perrine Marec‐Bérard, Marion Gilibert‐Yvert, Alexandra Spiegel, Paul Saultier, Isabelle Pellier, Anne Pagnier, Sophie Pertuisel, Maryline Poirée, Damien Bodet, Frédéric Millot, Florentina Isfan, Jean-Louis Stéphan, Amaury Leruste, Charlotte Rigaud, Bruno Filhon, Liana Carausu, Yves Réguerre, Isabelle Kieffer, Bénédicte Brichard, Rim Ben Jannet, Mariama Bakari, Ahmed Idbaïh, Christine Bodemer, F. Cohen Aubart, Julien Haroche, Abdellatif Tazi, Sabah Boudjemaa, Sylvie Fraitag, Jean‐François Emile, Sébastien Héritier

    Published 2023
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  18. 18
    Phosphoinositide 3-Kinase δ Gene Mutation Predisposes to Respiratory Infection and Airway Damage

    Phosphoinositide 3-Kinase δ Gene Mutation Predisposes to Respiratory Infection and Airway Damage by Ivan L. Ângulo, Oscar Vadas, Fabien Garçon, Edward Banham-Hall, Vincent Plagnol, Timothy Ronan Leahy, Helen Baxendale, Tanya Coulter, James Curtis, Changxin Wu, Katherine G. Blake-Palmer, Olga Perišić, Deborah J. Smyth, Mailis Maes, Christine Fiddler, Jatinder K. Juss, Deirdre Cilliers, Gašper Markelj, Anita Chandra, George Farmer, Anna Kielkowska, Jonathan Clark, Sven Kracker, Marianne Debré, Capucine Pïcard, Isabelle Pellier, Nada Jabado, James Morris, Gabriela Barcenas‐Morales, Alain Fischer, Len Stephens, Phillip T. Hawkins, Jeffrey C. Barrett, Mario Abinun, Menna R. Clatworthy, Anne Durandy, Rainer Döffinger, Edwin R. Chilvers, Andrew J. Cant, Dinakantha Kumararatne, Klaus Okkenhaug, Roger Williams, Alison M. Condliffe, Sergey Nejentsev

    Published 2013
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  19. 19
    <i>BRAF</i> Mutation Correlates With High-Risk Langerhans Cell Histiocytosis and Increased Resistance to First-Line Therapy

    <i>BRAF</i> Mutation Correlates With High-Risk Langerhans Cell Histiocytosis and Increased Resistance to First-Line Therapy by Sebastien Héritier, Jean‐François Emile, Mohamed‐Aziz Barkaoui, Caroline Thomas, Sylvie Fraitag, Sabah Boudjemaa, Florence Renaud, Philippe Moreau, Michel Peuchmaur, Catherine Chassagne‐Clément, Frédérique Dijoud, Valérie Rigau, Despina Moshous, Anne Lambilliotte, Françoise Mazingue, Kamila Kébaïli, Jean Miron, Éric Jeziorski, Geneviève Plat, Nathalie Aladjidi, Alina Ferster, Hélène Pacquement, Claire Galambrun, Laurence Brugières, Guy Leverger, L Mansuy, Catherine Paillard, Anne Deville, Corinne Armari‐Alla, Anne Lutun, Marion Gillibert‐Yvert, Jean‐Louis Stéphan, F. Cohen Aubart, Julien Haroche, Isabelle Pellier, Frédéric Millot, Brigitte Lescoeur, Virginie Gandemer, Christine Bodemer, Roger Lacave, Zofia Hélias‐Rodzewicz, Valérie Taly, Frédéric Geissmann, Jean Donadieu

    Published 2016
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  20. 20
    Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations

    Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations by Charline Miot, Kohsuke Imai, Chihaya Imai, Anthony J. Mancini, Zeynep Yesim Kucuk, Tokomki Kawai, Ryuta Nishikomori, Etsuro Ito, Isabelle Pellier, Sophie Dupuis‐Girod, Jérémie Rosain, Shinya Sasaki, Shanmuganathan Chandrakasan, Jana Pachlopnik Schmid, Tsubasa Okano, Estelle Colin, Alberto Olaya‐Vargas, Marco Antonio Yamazaki‐Nakashimada, Waseem Qasim, Sara Elva Espinosa‐Padilla, Andrea L. Jones, Alfons Krol, Nyree Cole, Stephen Jolles, Jack Bleesing, Thomas Vraetz, Andrew R. Gennery, Mario Abinun, Tayfun Güngör, Beatriz Tavares Costa‐Carvalho, Antônio Condino‐Neto, Paul Veys, Steven M. Holland, Gülbû Uzel, Despina Moshous, Bénédicte Neven, Stéphane Blanche, Stephan Ehl, Rainer Döffinger, Smita Y. Patel, Anne Puel, Jacinta Bustamante, Erwin W. Gelfand, Jean‐Laurent Casanova, Jordan S. Orange, Capucine Pïcard

    Published 2017
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