Molecular mechanisms of biogenesis and exocytosis of cytotoxic granules
de Saint Basile, Geneviève, Ménasché, Gaël, Fischer, Alain
Published in Nature reviews. Immunology (01.08.2010)
Published in Nature reviews. Immunology (01.08.2010)
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Immunotherapy of familial hemophagocytic lymphohistiocytosis with antithymocyte globulins: a single-center retrospective report of 38 patients
Mahlaoui, Nizar, Ouachée-Chardin, Marie, de Saint Basile, Geneviève, Neven, Bénédicte, Picard, Capucine, Blanche, Stéphane, Fischer, Alain
Published in Pediatrics (Evanston) (01.09.2007)
Published in Pediatrics (Evanston) (01.09.2007)
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TTC7A mutations disrupt intestinal epithelial apicobasal polarity
Bigorgne, Amélie E, Farin, Henner F, Lemoine, Roxane, Mahlaoui, Nizar, Lambert, Nathalie, Gil, Marine, Schulz, Ansgar, Philippet, Pierre, Schlesser, Patrick, Abrahamsen, Tore G, Oymar, Knut, Davies, E Graham, Ellingsen, Christian Lycke, Leteurtre, Emmanuelle, Moreau-Massart, Brigitte, Berrebi, Dominique, Bole-Feysot, Christine, Nischke, Patrick, Brousse, Nicole, Fischer, Alain, Clevers, Hans, de Saint Basile, Geneviève
Published in The Journal of clinical investigation (01.01.2014)
Published in The Journal of clinical investigation (01.01.2014)
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Terminal transport of lytic granules to the immune synapse is mediated by the kinesin-1/Slp3/Rab27a complex
Kurowska, Mathieu, Goudin, Nicolas, Nehme, Nadine T., Court, Magali, Garin, Jérôme, Fischer, Alain, de Saint Basile, Geneviève, Ménasché, Gaël
Published in Blood (26.04.2012)
Published in Blood (26.04.2012)
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Kinesin-1 regulates antigen cross-presentation through the scission of tubulations from early endosomes in dendritic cells
Belabed, Meriem, Mauvais, François-Xavier, Maschalidi, Sophia, Kurowska, Mathieu, Goudin, Nicolas, Huang, Jian-Dong, Fischer, Alain, de Saint Basile, Geneviève, van Endert, Peter, Sepulveda, Fernando E., Ménasché, Gaël
Published in Nature communications (14.04.2020)
Published in Nature communications (14.04.2020)
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Gene Therapy of Human Severe Combined Immunodeficiency (SCID)-X1 Disease
Cavazzana-Calvo, Marina, Hacein-Bey, Salima, Geneviève de Saint Basile, Gross, Fabian, Yvon, Eric, Nusbaum, Patrick, Selz, Françoise, Hue, Christophe, Certain, Stéphanie, Casanova, Jean-Laurent, Bousso, Philippe, Le Deist, Françoise, Fischer, Alain
Published in Science (American Association for the Advancement of Science) (28.04.2000)
Published in Science (American Association for the Advancement of Science) (28.04.2000)
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Inherited defects in lymphocyte cytotoxic activity
Schmid, Jana P, Côte, Marjorie, Ménager, Mickaël M, Burgess, Agathe, Nehme, Nadine, Ménasché, Gaël, Fischer, Alain, de Saint Basile, Geneviève
Published in Immunological reviews (01.05.2010)
Published in Immunological reviews (01.05.2010)
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Hematopoietic stem cell transplantation in hemophagocytic lymphohistiocytosis: a single-center report of 48 patients
Ouachée-Chardin, Marie, Elie, Caroline, de Saint Basile, Geneviève, Le Deist, Françoise, Mahlaoui, Nizar, Picard, Capucine, Neven, Bénédicte, Casanova, Jean-Laurent, Tardieu, Marc, Cavazzana-Calvo, Marina, Blanche, Stéphane, Fischer, Alain
Published in Pediatrics (Evanston) (01.04.2006)
Published in Pediatrics (Evanston) (01.04.2006)
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Secretory cytotoxic granule maturation and exocytosis require the effector protein hMunc13-4
Romao, Maryse, de Saint Basile, Geneviève, Ménager, Mickaël M, Knapnougel, Perrine, Garfa, Mériem, Feldmann, Jérôme, Fischer, Alain, Ménasché, Gaël, Ho, Chen-Hsuan, Raposo, Graça
Published in Nature Immunology (01.03.2007)
Published in Nature Immunology (01.03.2007)
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Defective NKT cell development in mice and humans lacking the adapter SAP, the X-linked lymphoproliferative syndrome gene product
Pasquier, Benoit, Yin, Luo, Fondanèche, Marie-Claude, Relouzat, Francis, Bloch-Queyrat, Coralie, Lambert, Nathalie, Fischer, Alain, de Saint-Basile, Geneviève, Latour, Sylvain
Published in The Journal of experimental medicine (07.03.2005)
Published in The Journal of experimental medicine (07.03.2005)
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Chronic Infantile Neurological Cutaneous and Articular Syndrome Is Caused by Mutations in CIAS1, a Gene Highly Expressed in Polymorphonuclear Cells and Chondrocytes
Feldmann, Jérôme, Prieur, Anne-Marie, Quartier, Pierre, Berquin, Patrick, Certain, Stéphanie, Cortis, Elisabetta, Teillac-Hamel, Dominique, Fischer, Alain, Basile, Geneviève de Saint
Published in American journal of human genetics (01.07.2002)
Published in American journal of human genetics (01.07.2002)
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Perforin Gene Defects in Familial Hemophagocytic Lymphohistiocytosis
Stepp, Susan E., Dufourcq-Lagelouse, Rémi, Le Deist, Françoise, Bhawan, Sadhna, Certain, Stéphanie, Mathew, Porunelloor A., Henter, Jan-Inge, Bennett, Michael, Fischer, Alain, Geneviève de Saint Basile, Kumar, Vinay
Published in Science (American Association for the Advancement of Science) (03.12.1999)
Published in Science (American Association for the Advancement of Science) (03.12.1999)
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Munc13-4 Regulates Granule Secretion in Human Neutrophils
Pivot-Pajot, Christophe, Varoqueaux, Frederique, de Saint Basile, Genevieve, Bourgoin, Sylvain G
Published in The Journal of immunology (1950) (15.05.2008)
Published in The Journal of immunology (1950) (15.05.2008)
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Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients
Dupuis-Girod, Sophie, Medioni, Jacques, Haddad, Elie, Quartier, Pierre, Cavazzana-Calvo, Marina, Le Deist, Françoise, de Saint Basile, Geneviève, Delaunay, Jean, Schwarz, Klaus, Casanova, Jean-Laurent, Blanche, Stephane, Fischer, Alain
Published in Pediatrics (Evanston) (01.05.2003)
Published in Pediatrics (Evanston) (01.05.2003)
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Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome
Gayden, Tenzin, Sepulveda, Fernando E., Khuong-Quang, Dong-Anh, Pratt, Jonathan, Valera, Elvis T., Garrigue, Alexandrine, Kelso, Susan, Sicheri, Frank, Mikael, Leonie G., Hamel, Nancy, Bajic, Andrea, Dali, Rola, Deshmukh, Shriya, Dervovic, Dzana, Schramek, Daniel, Guerin, Frédéric, Taipale, Mikko, Nikbakht, Hamid, Majewski, Jacek, Moshous, Despina, Charlebois, Janie, Abish, Sharon, Bole-Feysot, Christine, Nitschke, Patrick, Bader-Meunier, Brigitte, Mitchell, David, Thieblemont, Catherine, Battistella, Maxime, Gravel, Simon, Nguyen, Van-Hung, Conyers, Rachel, Diana, Jean-Sebastien, McCormack, Chris, Prince, H. Miles, Besnard, Marianne, Blanche, Stephane, Ekert, Paul G., Fraitag, Sylvie, Foulkes, William D., Fischer, Alain, Neven, Bénédicte, Michonneau, David, de Saint Basile, Geneviève, Jabado, Nada
Published in Nature genetics (01.12.2018)
Published in Nature genetics (01.12.2018)
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Progressive neurologic dysfunctions 20 years after allogeneic bone marrow transplantation for Chediak-Higashi syndrome
Tardieu, Marc, Lacroix, Catherine, Neven, Bénédicte, Bordigoni, Pierre, Basile, Geneviève de Saint, Blanche, Stéphane, Fischer, Alain
Published in Blood (01.07.2005)
Published in Blood (01.07.2005)
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XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome
Soulas, Pauline, Latour, Sylvain, de Saint Basile, Geneviève, Fischer, Alain, Le Deist, Françoise, Mateo, Véronique, Galicier, Lionel, Fondanèche, Marie-Claude, Lambert, Nathalie, Pasquier, Benoit, Rieux-Laucat, Frédéric, Revy, Patrick, Rigaud, Stéphanie
Published in Nature (02.11.2006)
Published in Nature (02.11.2006)
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Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells
Côte, Marjorie, Ménager, Mickaël M, Burgess, Agathe, Mahlaoui, Nizar, Picard, Capucine, Schaffner, Catherine, Al-Manjomi, Fahad, Al-Harbi, Musa, Alangari, Abdullah, Le Deist, Françoise, Gennery, Andrew R, Prince, Nathalie, Cariou, Astrid, Nitschke, Patrick, Blank, Ulrich, El-Ghazali, Gehad, Ménasché, Gaël, Latour, Sylvain, Fischer, Alain, de Saint Basile, Geneviève
Published in The Journal of clinical investigation (01.12.2009)
Published in The Journal of clinical investigation (01.12.2009)
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Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations
Besnard, Caroline, Levy, Eva, Aladjidi, Nathalie, Stolzenberg, Marie-Claude, Magerus-Chatinet, Aude, Alibeu, Olivier, Nitschke, Patrick, Blanche, Stéphane, Hermine, Olivier, Jeziorski, Eric, Landman-Parker, Judith, Leverger, Guy, Mahlaoui, Nizar, Michel, Gérard, Pellier, Isabelle, Suarez, Felipe, Thuret, Isabelle, de Saint-Basile, Geneviève, Picard, Capucine, Fischer, Alain, Neven, Bénédicte, Rieux-Laucat, Frédéric, Quartier, Pierre
Published in Clinical immunology (Orlando, Fla.) (01.03.2018)
Published in Clinical immunology (Orlando, Fla.) (01.03.2018)
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