Analyse du bénéfice des anti-PD-1 en monothérapie en fonction des altérations génétiques diagnostiquées par NGS chez des patients atteints de cancer bronchique non à petites cellul... von de Saint Basile, H., Elaidi, R., Maaradji, Z., Blons, H., Gibaud, L., Ung, M., Fabre, E.

Volltext

741P Immune features of high-grade ovarian cancer associated with exceptional disease free survival (DFS): An analysis from VIVROVAIRE, a GINECO/GINEGEPS study von Mourani, L., Yaniz-Galende, E., Genestie, C., Gernier, F., De Saint Basile, H., Follana, P., Floquet, A., Tredan, O., Kalbacher, E., Dohollou, N., Berton, D., Alexandre, J., Zannetti, A., Raban, N., Kaminsky-Forrett, M-C., Pautier, P., Ferron, G., Joly, F., Blanc-Durand, F., Leary, A.

Volltext

Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome von 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

Volltext

The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity von Seidel, Markus G., Kindle, Gerhard, Gathmann, Benjamin, Quinti, Isabella, Buckland, Matthew, van Montfrans, Joris, Scheible, Raphael, Rusch, Stephan, Gasteiger, Lukas M., Grimbacher, Bodo, Mahlaoui, Nizar, Ehl, Stephan, Abinun, Mario, Albert, Michael, Cohen, Sarah Beaussant, Bustamante, Jacinta, Cant, Andrew, Casanova, Jean-Laurent, Chapel, Helen, de Saint Basile, Genevieve, de Vries, Esther, Dokal, Inderjeet, Donadieu, Jean, Durandy, Anne, Edgar, David, Espanol, Teresa, Etzioni, Amos, Fischer, Alain, Gaspar, Bobby, Gatti, Richard, Gennery, Andrew, Grigoriadou, Sofia, Holland, Steven, Janka, Gritta, Kanariou, Maria, Klein, Christoph, Lachmann, Helen, Lilic, Desa, Manson, Ania, Martinez, Natalia, Meyts, Isabelle, Moes, Nicolette, Moshous, Despina, Neven, Benedicte, Ochs, Hans, Picard, Capucine, Renner, Ellen, Rieux-Laucat, Frederic, Seger, Reinhard, Soresina, Annarosa, Stoppa-Lyonnet, Dominique, Thon, Vojtech, Thrasher, Adrian, van de Veerdonk, Frank, Villa, Anna, Weemaes, Corry, Warnatz, Klaus, Wolska, Beata, Zhang, Shen-Yin

Volltext

Neutralization of IFNγ defeats haemophagocytosis in LCMV‐infected perforin‐ and Rab27a‐deficient mice von Schmid, Jana Pachlopnik, Ho, Chen‐H., Chrétien, Fabrice, Lefebvre, Juliette M., Pivert, Gérard, Kosco‐Vilbois, Marie, Ferlin, Walter, Geissmann, Frédéric, Fischer, Alain, de Saint Basile, Geneviève

Volltext

Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1) von Ménasché, Gaël, Ho, Chen Hsuan, Sanal, Ozden, Feldmann, Jérôme, Tezcan, Ilhan, Ersoy, Fügen, Houdusse, Anne, Fischer, Alain, Basile, Geneviève de Saint

Volltext

Munc13-4 Is Essential for Cytolytic Granules Fusion and Is Mutated in a Form of Familial Hemophagocytic Lymphohistiocytosis (FHL3) von Feldmann, Jérôme, Callebaut, Isabelle, Raposo, Graça, Certain, Stéphanie, Bacq, Delphine, Dumont, Cécile, Lambert, Nathalie, Ouachée-Chardin, Marie, Chedeville, Gaëlle, Tamary, Hannah, Minard-Colin, Véronique, Vilmer, Etienne, Blanche, Stéphane, Le Deist, Françoise, Fischer, Alain, de Saint Basile, Geneviève

Volltext

Dynamic Formation of Microvillus Inclusions During Enterocyte Differentiation in Munc18-2 –Deficient Intestinal Organoids von Mosa, Mohammed H, Nicolle, Ophélie, Maschalidi, Sophia, Sepulveda, Fernando E, Bidaud-Meynard, Aurelien, Menche, Constantin, Michels, Birgitta E, Michaux, Grégoire, de Saint Basile, Geneviève, Farin, Henner F

Volltext

First use of thymus transplantation therapy for FOXN1 deficiency (nude/SCID): a report of 2 cases von Markert, M. Louise, Marques, José G., Neven, Bénédicte, Devlin, Blythe H., McCarthy, Elizabeth A., Chinn, Ivan K., Albuquerque, Adriana S., Silva, Susana L., Pignata, Claudio, de Saint Basile, Geneviève, Victorino, Rui M., Picard, Capucine, Debre, Marianne, Mahlaoui, Nizar, Fischer, Alain, Sousa, Ana E.

Volltext

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations von Palmer, Elizabeth E., Kumar, Raman, Gordon, Christopher T., Shaw, Marie, Hubert, Laurence, Carroll, Renee, Rio, Marlène, Murray, Lucinda, Leffler, Melanie, Dudding-Byth, Tracy, Oufadem, Myriam, Lalani, Seema R., Lewis, Andrea M., Xia, Fan, Tam, Allison, Webster, Richard, Brammah, Susan, Filippini, Francesca, Pollard, John, Spies, Judy, Minoche, Andre E., Cowley, Mark J., Risen, Sarah, Powell-Hamilton, Nina N., Tusi, Jessica E., Immken, LaDonna, Nagakura, Honey, Bole-Feysot, Christine, Nitschké, Patrick, Garrigue, Alexandrine, de Saint Basile, Geneviève, Kivuva, Emma, Scott, Richard H., Rendon, Augusto, Munnich, Arnold, Newman, William, Kerr, Bronwyn, Besmond, Claude, Rosenfeld, Jill A., Amiel, Jeanne, Field, Michael, Gecz, Jozef

Volltext

Germline TIM-3 Mutations Characterize Sub-Cutaneous Panniculitis T-Cell Lymphomas with Hemophagocytic Lymphohistiocytic Syndrome von Khuong-Quang, Dong-Anh, Gayden, Tenzin, Sepulveda, Fernando, Pratt, Jonathan, Valera, Elvis, Garrigue, Alexandrine, Kelso, Susan, Sicheri, Frank, Mikael, Leonie, Hamel, Nancy, Bajic, Andrea, Dali, Rola, Dervovic, Dzana, Schramek, Daniel, Guerin, Frederic, 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, Christopher, Prince, H. Miles, Besnard, Marianne, Blanche, Stephane, Ekert, Paul G, Fraitag, Sylvie, Foulkes, William D, Fischer, Alain, Neven, Benedicte, Michonneau, David, de Saint Basile, Genevieve, Jabado, Nada

Volltext

Failure of SCID-X1 gene therapy in older patients von Thrasher, Adrian J., Hacein-Bey-Abina, Salima, Gaspar, H. Bobby, Blanche, Stephane, Davies, E. Graham, Parsley, Kathryn, Gilmour, Kimberly, King, Douglas, Howe, Steven, Sinclair, Joanna, Hue, Christophe, Carlier, Frédérique, von Kalle, Christof, de Saint Basile, Geneviève, le Deist, Françoise, Fischer, Alain, Cavazzana-Calvo, Marina

Volltext

LMO2-Associated Clonal T Cell Proliferation in Two Patients after Gene Therapy for SCID-X1 von S. Hacein-Bey-Abina, Von Kalle, C., Schmidt, M., McCormack, M. P., Wulffraat, N., Leboulch, P., Lim, A., Osborne, C. S., Pawliuk, R., Morillon, E., Sorensen, R., Forster, A., Fraser, P., Cohen, J. I., G. de Saint Basile, Alexander, I., Wintergerst, U., Frebourg, T., Aurias, A., Stoppa-Lyonnet, D., Romana, S., Radford-Weiss, I., Gross, F., Valensi, F., Delabesse, E., Macintyre, E., Sigaux, F., Soulier, J., Leiva, L. E., Wissler, M., Prinz, C., Rabbitts, T. H., Le Deist, F., Fischer, A., Cavazzana-Calvo, M.

Volltext

Atypical X-Linked Severe Combined Immunodeficiency Due to Possible Spontaneous Reversion of the Genetic Defect in T Cells von Stephan, Volker, Wahn, Volker, Le Deist, Françoise, Dirksen, Uta, Bröker, Barbara, Müller-Fleckenstein, Ingrid, Horneff, Gerd, Schroten, Horst, Fischer, Alain, de Saint Basile, Geneviève

Volltext

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 c... von Roux, C, Tifratene, K, Socié, G, Galambrun, C, Bertrand, Y, Rialland, F, Jubert, C, Pochon, C, Paillard, C, Sirvent, A, Nelken, B, Vannier, J P, Freycon, C, Beguin, Y, Raus, N, Yakoub-Agha, I, Mohty, M, Dalle, J-H, Michel, G, Pradier, C, Peffault de Latour, R, Rohrlich, P-S

Volltext

Author Correction: Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome von 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

Volltext

Long-term clinical outcome and HAVCR2 mutations in 70 patients with subcutaneous panniculitis-like T-cell lymphoma: a study from the French Cutaneous Lymphoma Group von Sonigo, G., Battistella, M., Beylot-Barry, M., Oro, S., Franck, N., Barete, S., Boulinguez, S., Dereure, O., Bonnet, N., Socie, G., Brice, P., Boccara, O., Bodemer, C., Adamski, H., D’Incan, M., Ortonne, N., Fraitag, S., Brunet-Possenti, F., Dalle, S., Suarez, F., Març ais, A., Skowron, F., Haidar, D., Maubec, E., Bohelay, G., Laroche, L, Mahé, A., Birckel, E., Bouaziz, JD, Brochériou, I., Dubois, R., Faiz, S., Fadlallah, J., Ram-Wolff, C., Carlotti, A., Bens, G., Balme, B., Vergier, B., Laurent-Roussel, S., Deschamps, L., Carpentier, O., Moguelet, P., Herve, G., Comoz, F., Le Gall, F., Leverger, G., Finon, A., Augereau, O., Bléchet, C., Kerdraon, R., Lamant, L., Tournier, E., Franck, F., Costes Martineau, V., Szablewski, V., Taix, S., Beschet, I., Guérin, F., Sepulveda, F., Bagot, M., de Saint-Basile, G., Michonneau, D., de Masson, A.

Volltext

020 - Long-term clinical outcome and HAVCR2 mutations in 70 patients with subcutaneous panniculitis-like T-cell lymphoma: a study from the French Cutaneous Lymphoma Group von Sonigo, G., Battistella, M., Beylot-Barry, M., Oro, S., Franck, N., Barete, S., Boulinguez, S., Dereure, O., Bonnet, N., Socie, G., Brice, P., Boccara, O., Bodemer, C., Adamski, H., D’Incan, M., Ortonne, N., Fraitag, S., Brunet-Possenti, F., Dalle, S., Suarez, F., Març ais, A., Skowron, F., Haidar, D., Maubec, E., Bohelay, G., Laroche, L, Mahé, A., Birckel, E., Bouaziz, JD, Brochériou, I., Dubois, R., Faiz, S., Fadlallah, J., Ram-Wolff, C., Carlotti, A., Bens, G., Balme, B., Vergier, B., Laurent-Roussel, S., Deschamps, L., Carpentier, O., Moguelet, P., Herve, G., Comoz, F., Le Gall, F., Leverger, G., Finon, A., Augereau, O., Bléchet, C., Kerdraon, R., Lamant, L., Tournier, E., Franck, F., Costes Martineau, V., Szablewski, V., Taix, S., Beschet, I., Guérin, F., Sepulveda, F., Bagot, M., de Saint-Basile, G., Michonneau, D., de Masson, A.

Volltext

Patients of African ancestry with hemophagocytic lymphohistiocytosis share a common haplotype of PRF1 with a 50delT mutation von Lee, Susan Molleran, Sumegi, Janos, Villanueva, Joyce, Tabata, Yasuhiro, Zhang, Kejian, Chakraborty, Ranajit, Sheng, Xiaohua, Clementi, Rita, de Saint Basile, Genevieve, Filipovich, Alexandra H.

Volltext

Deficient Peptide Loading and MHC Class II Endosomal Sorting in a Human Genetic Immunodeficiency Disease: The Chediak-Higashi Syndrome von Faigle, Wolfgang, Raposo, Graça, Tenza, Daniele, Pinet, Valérie, Vogt, Anne B., Kropshofer, Harald, Fischer, Alain, de Saint-Basile, Geneviève, Amigorena, Sebastian

Volltext