检索结果 - Jean‐Louis Stéphan

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  1. 1
    Successful allogeneic hematopoietic stem cell transplantation for DOCK8 deficiency

    Successful allogeneic hematopoietic stem cell transplantation for DOCK8 deficiency 由 Vincent Barlogis, Claire Galambrun, Hérvè Chambost, Sylvie Lamoureux-Toth, Philippe Petit, Jean-Louis Stéphan, Gérard Michel, Alain Fischer, Capucine Pïcard

    出版 2011
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  2. 2
    Linkage of Familial Hemophagocytic Lymphohistiocytosis to 10q21-22 and Evidence for Heterogeneity

    Linkage of Familial Hemophagocytic Lymphohistiocytosis to 10q21-22 and Evidence for Heterogeneity 由 Rémi Dufourcq-Lagelouse, Nada Jabado, Françoise Le Deist, Jean-Louis Stéphan, Gérard Souillet, Marrie C.A. Bruin, E Vilmer, Marion Schneider, Gritta Janka, Alain Fischer, Geneviève de Saint Basile

    出版 1999
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  3. 3
    Cernunnos, a Novel Nonhomologous End-Joining Factor, Is Mutated in Human Immunodeficiency with Microcephaly

    Cernunnos, a Novel Nonhomologous End-Joining Factor, Is Mutated in Human Immunodeficiency with Microcephaly 由 Dietke Buck, Laurent Malivert, Régina de Chasseval, Anne Barraud, Marie‐Claude Fondanèche, Özden Sanal, Alessandro Plebani, Jean-Louis Stéphan, Markus Hufnagel, Françoise Le Deist, Alain Fischer, Anne Durandy, Jean‐Pierre de Villartay, Patrick Revy

    出版 2006
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  4. 4
    Identification of New Prognosis Factors from the Clinical and Epidemiologic Analysis of a Registry of 229 Diamond-Blackfan Anemia Patients

    Identification of New Prognosis Factors from the Clinical and Epidemiologic Analysis of a Registry of 229 Diamond-Blackfan Anemia Patients 由 Thiébaut-Noël Willig, Charlotte Niemeyer, Thierry Leblanc, Christian Tiemann, Alain Robert, Jörg Budde, Anne Lambiliotte, E. Kohne, G Souillet, Stefan Eber, Jean-Louis Stéphan, Robert Girot, Pierre Bordigoni, Guy Cornu, S. Blanche, J M Guillard, Narla Mohandas

    出版 1999
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  5. 5
    Partial Interferon‐γ Receptor Signaling Chain Deficiency in a Patient with Bacille Calmette‐Guérin and<i>Mycobacterium abscessus</i>Infection

    Partial Interferon‐γ Receptor Signaling Chain Deficiency in a Patient with Bacille Calmette‐Guérin and<i>Mycobacterium abscessus</i>Infection 由 Rainer Döffinger, Emmanuelle Jouanguy, Stéphanie Boisson‐Dupuis, Marie‐Claude Fondanèche, Jean-Louis Stéphan, Jean‐François Emile, Salma Lamhamedi‐Cherradi, Frédéric Altare, Annaïck Pallier, Gabriela Barcenas‐Morales, Edgar Meinl, Christopher Krause, Sidney Pestka, Robert D. Schreiber, Francesco Novelli, Jean‐Laurent Casanova

    出版 2000
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  6. 6
    A role for interleukin-12/23 in the maturation of human natural killer and CD56+ T cells in vivo

    A role for interleukin-12/23 in the maturation of human natural killer and CD56+ T cells in vivo 由 Sophie Guia, Céline Cognet, Ludovic de Beaucoudrey, Marlowe S. Tessmer, Emmanuelle Jouanguy, Claire Berger, Orchidée Filipe‐Santos, Jacqueline Feinberg, Yıldız Çamcıoğlu, Jacob Levy, Suliman Al Jumaah, Sami Al-Hajjar, Jean-Louis Stéphan, Claire Fieschi, Laurent Abel, Laurent Brossay, Jean‐Laurent Casanova, Éric Vivier

    出版 2008
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  7. 7
    Mutations in the adaptor-binding domain and associated linker region of p110δ cause Activated PI3K-δ Syndrome 1 (APDS1)

    Mutations in the adaptor-binding domain and associated linker region of p110δ cause Activated PI3K-δ Syndrome 1 (APDS1) 由 Lucie Heurtier, Hicham Lamrini, Loïc Chentout, Marie‐Céline Deau, Amine Bouafia, Jérémie Rosain, Jean-Marc Plaza, Mélanie Parisot, Benoît Dumont, Delphine Turpin, Étienne Merlin, Despina Moshous, Nathalie Aladjidi, Bénédicte Neven, Capucine Pïcard, Marina Cavazzana, Alain Fischer, Anne Durandy, Jean-Louis Stéphan, Sven Kracker

    出版 2017
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  8. 8
    Long-term results of related myeloablative stem-cell transplantation to cure sickle cell disease

    Long-term results of related myeloablative stem-cell transplantation to cure sickle cell disease 由 Françoise Bernaudin, Gèrard Socié, Mathieu Kuentz, Sylvie Chevret, Michel Duval, Yves Bertrand, Jean‐Pierre Vannier, Karima Yakouben, Isabelle Thuret, Pierre Bordigoni, Alain Fischer, Patrick Lutz, Jean-Louis Stéphan, Nathalie Dhédin, Emmanuel Plouvier, Geneviève Margueritte, Dominique Bories, Suzanne Verlhac, Hélène Esperou, Léna Coïc, Jean‐Paul Vernant, Éliane Gluckman

    出版 2007
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  9. 9
    Frequent <i>hSNF5/INI1</i> Germline Mutations in Patients with Rhabdoid Tumor

    Frequent <i>hSNF5/INI1</i> Germline Mutations in Patients with Rhabdoid Tumor 由 Franck Bourdeaut, Delphine Lequin, Laurence Brugières, Stéphanie Reynaud, Christelle Dufour, François Doz, Nicolás André, Jean‐Louis Stéphan, Yves Pérel, Odile Oberlin, Daniel Orbach, Christophe Bergeron, Xavier Rialland, Paul Fréneaux, Dominique Ranchère, Dominique Figarella‐Branger, G. Audry, Stéphanie Puget, D. Gareth Evans, Joan Carles Ferreres, Valeria Capra, Véronique Mosseri, Isabelle Coupier, Marion Gauthier‐Villars, Gaëlle Pierron, Olivier Delattre

    出版 2011
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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) 由 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

    出版 2010
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  11. 11
    Ribosomal Protein SA Haploinsufficiency in Humans with Isolated Congenital Asplenia

    Ribosomal Protein SA Haploinsufficiency in Humans with Isolated Congenital Asplenia 由 Alexandre Bolze, Nizar Mahlaoui, Minji Byun, Bridget Turner, Nikolaus S. Trede, Steven R. Ellis, Avinash Abhyankar, Yuval Itan, Étienne Patin, Samuel Brebner, Paul Sackstein, Anne Puel, Capucine Pïcard, Laurent Abel, Lluı́s Quintana-Murci, Saul N. Faust, Anthony P. Williams, Richard Baretto, M Duddridge, Usha Kini, Andrew J. Pollard, C. Gaud, Pierre Frange, Daniel Orbach, Jean‐François Emile, Jean-Louis Stéphan, Ricardo U. Sorensen, Alessandro Plebani, Lennart Hammarström, Mary Ellen Conley, Licia Selleri, Jean‐Laurent Casanova

    出版 2013
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  12. 12
    X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene

    X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene 由 Chantal Lagresle‐Peyrou, Sonia Luce, Farid Ouchani, Tayebeh Soheili, Hanem Sadek, Myriam Chouteau, Amandine Durand, Isabelle Pic, Jacek Majewski, Chantal Brouzes, Nathalie Lambert, Armelle Bohineust, Els Verhoeyen, François‐Loïc Cosset, Aude Magérus‐Chatinet, Frédéric Rieux‐Laucat, Virginie Gandemer, Delphine Monnier, Cathérine Heijmans, Mariëlle van Gijn, Virgil A. S. H. Dalm, Nizar Mahlaoui, Jean-Louis Stéphan, Capucine Pïcard, Anne Durandy, Sven Kracker, Claire Hivroz, Nada Jabado, Geneviève de Saint Basile, Alain Fischer, Marina Cavazzana, Isabelle André‐Schmutz

    出版 2016
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  13. 13
    Late effects after hematopoietic stem cell transplantation for β-thalassemia major: the French national experience

    Late effects after hematopoietic stem cell transplantation for β-thalassemia major: the French national experience 由 Ilhem Rahal, Claire Galambrun, Yves Bertrand, Nathalie Garnier, Catherine Paillard, Pierre Frange, Corinne Pondarré, Jean Hugues Dalle, Régis Peffault de Latour, Mauricette Michallet, Dominique Steschenko, Despina Moshous, Patrick Lutz, Jean Louis Stéphan, Pierre‐Simon Rohrlich, Ibrahim Yakoub‐Agha, Françoise Bernaudin, Christophe Piguet, Nathalie Aladjidi, Catherine Badens, Claire Berger, Gèrard Socié, C. Dumesnil, Marie Pierre Castex, Marilyne Poirée, Anne Lambilliotte, Caroline Thomas, Pauline Simon, Pascal Auquier, Gérard Michel, Anderson Loundou, Imane Agouti, Isabelle Thuret

    出版 2018
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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 由 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

    出版 2018
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  15. 15
    Molecular and clinicopathologic characterization of pediatric histiocytoses

    Molecular and clinicopathologic characterization of pediatric histiocytoses 由 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

    出版 2023
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  16. 16
    Autosomal Dominant STAT3 Deficiency and Hyper-IgE Syndrome

    Autosomal Dominant STAT3 Deficiency and Hyper-IgE Syndrome 由 Marie‐Olivia Chandesris, Isabelle Melki, Angels Natividad, Anne Puel, Claire Fieschi, Yun Ling, C. Thumerelle, Éric Oksenhendler, David Boutboul, Caroline Thomas, C. Hoarau, Yvon Lebranchu, Jean-Louis Stéphan, Céline Cazorla, Nathalie Aladjidi, M. Micheau, François Tron, André Baruchel, Vincent Barlogis, Gilles Palenzuela, C. Mathey, S. Dominique, Gérard Body, Martine Münzer, Fanny Fouyssac, R. Jaussaud, Brigitte Bader‐Meunier, Nizar Mahlaoui, Stéphane Blanche, Marianne Debré, M. Le Bourgeois, Virginie Gandemer, Nathalie Lambert, Virginie Grandin, Stéphanie Ndaga, Corinne Jacques, Chantal Harre, Monique Forveille, Marie‐Alexandra Alyanakian, Anne Durandy, Christine Bodemer, Felipe Suárez, Olivier Hermine, Olivier Lortholary, Jean‐Laurent Casanova, Alain Fischer, Capucine Pïcard

    出版 2012
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  17. 17
    Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study

    Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study 由 Élodie Elkaim, Bénédicte Neven, Julie Bruneau, Kanako Mitsui‐Sekinaka, Aurélie Stanislas, Lucie Heurtier, C. Lucas, Helen Matthews, Marie‐Céline Deau, Svetlana O. Sharapova, James Curtis, Janine Reichenbach, Catherine Glastre, David Parry, Gururaj Arumugakani, Elizabeth McDermott, Sara Şebnem Kılıç, Motoi Yamashita, Despina Moshous, Hicham Lamrini, Burkhard Otremba, Andrew R. Gennery, Tanya Coulter, Isabella Quinti, Jean‐Louis Stéphan, Vassilios Lougaris, Nicholas Brodszki, Vincent Barlogis, Takaki Asano, Lionel Galicier, David Boutboul, Shigeaki Nonoyama, Andrew J. Cant, Kohsuke Imai, Capucine Pïcard, Sergey Nejentsev, Thierry Jo Molina, Michael J. Lenardo, Sinisa Savic, Marina Cavazzana, Alain Fischer, Anne Durandy, Sven Kracker

    出版 2016
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  18. 18
    <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 由 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

    出版 2016
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  19. 19
    Encephalitis and poor neuronal death–mediated control of herpes simplex virus in human inherited RIPK3 deficiency

    Encephalitis and poor neuronal death–mediated control of herpes simplex virus in human inherited RIPK3 deficiency 由 Zhiyong Liu, Eduardo J. Garcia Reino, Oliver Harschnitz, Hongyan Guo, Yi‐Hao Chan, Noopur V. Khobrekar, Mary L. Hasek, Kerry Dobbs, Darawan Rinchai, Marie Materna, Daniela Matuozzo, Danyel Lee, Paul Bastard, Jie Chen, Yoon Seung Lee, Seong K. Kim, Shuxiang Zhao, Param Amin, Lazaro Lorenzo, Yoann Seeleuthner, Rémi Chevalier, Laure Mazzola, Claire Gay, Jean-Louis Stéphan, Baptiste Milisavljevic, Soraya Boucherit, Flore Rozenberg, Rebeca Pérez de Diego, Richard D. Dix, Nico Marr, Vivien Béziat, Aurélie Cobat, Mélodie Aubart, Laurent Abel, Stéphane Chabrier, Gregory A. Smith, Luigi D. Notarangelo, Edward S. Mocarski, Lorenz Studer, Jean‐Laurent Casanova, Shen‐Ying Zhang

    出版 2023
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  20. 20
    Mutations in <i>STAT3</i> and <i>IL12RB1</i> impair the development of human IL-17–producing T cells

    Mutations in <i>STAT3</i> and <i>IL12RB1</i> impair the development of human IL-17–producing T cells 由 Ludovic de Beaucoudrey, Anne Puel, Orchidée Filipe‐Santos, Aurélie Cobat, Pegah Ghandil, Maya Chrabieh, Jacqueline Feinberg, Horst von Bernuth, Arina Samarina, Lucile Jannière, Claire Fieschi, Jean-Louis Stéphan, Cathérine Boileau, Stanislas Lyonnet, Guillaume Jondeau, Valérie Cormier‐Daire, Martine Le Merrer, C. Hoarau, Yvon Lebranchu, Olivier Lortholary, Marie‐Olivia Chandesris, François Tron, Eleonora Gambineri, Lucia Bianchi, Carlos Rodríguez‐Gallego, Simona Eva Zitnik, Júlia Vasconcelos, Margarida Guedes, Artur Bonito Vítor, László Maródi, Helen Chapel, Brenda Reid, Chaim M. Roifman, David Nadal, Janine Reichenbach, Isabel Caragol, Ben‐Zion Garty, Figen Doğu, Yıldız Çamcıoğlu, Sanyie Gülle, Özden Sanal, Alain Fischer, Laurent Abel, Brigitta Stockinger, Capucine Pïcard, Jean‐Laurent Casanova

    出版 2008
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