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Severe adult hemophagocytic lymphohistiocytosis (HLHa) correlates with HLH-related gene variants Bloch, Coralie; Jais, Jean Philippe; Gil, Marine; Boubaya, Marouane; Lepelletier, Yves; Bader-Meunier, Brigitte; Mahlaoui, Nizar; Garcelon, Nicolas; Lambotte, Olivier; Launay, David; Larroche, Claire; Lazaro, Estibaliz; Liffermann, Francois; Lortholary, Olivier; Michel, Marc; Michot, Jean-Marie; Morel, Pierre; Cheminant, Morgane; Suarez, Felipe; Terriou, Louis; Urbanski, Geoffrey; Viallard, Jean -Francois; Alcais, Alexandre; Fischer, Alain; Basile, Genevieve de Saint; Hermine, Olivier Share Save
Actin dynamics regulation by TTC7A/PI4KIIIα limits DNA damage and cell death under confinement Gajardo, Tania; Bernard, Mathilde; Lo, Marie; Turck, Elisa; Leveau, Claire; EI-Daher, Marie-Therese; Deslys, Alexandre; Panikulam, Patricia; Menche, Constantin; Kurowska, Mathieu; Le Lay, Gregoire; Barbier, Lucie; Moshous, Despina; Neven, Benedicte; Farin, Henner F.; Fischer, Alain; Menasche, Gael; de Saint Basile, Genevieve; Vargas, Pablo; Sepulveda, Fernando E. Share Save
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Rab44 regulates murine mast cell-driven anaphylaxis through kinesin-1-dependent secretory granule translocation Longe, Cyril; Bratti, Manuela; Kurowska, Mathieu; Vibhushan, Shamila; David, Pierre; Desmeure, Valere; Huang, Jian-Dong; Fischer, Alain; de Saint Basile, Genevieve; Sepulveda, Fernando E.; Blank, Ulrich; Menasche, Gael Share Save
Small Molecule Inhibitors of Interferon-Induced JAK-STAT Signalling Thoidingjam, Leishemba K.; Blouin, Cedric M.; Gaillet, Christine; Brion, Aurelien; Solier, Stephanie; Niyomchon, Supaporn; El Marjou, Ahmed; Mouasni, Sara; Sepulveda, Fernando E.; de Saint Basile, Genevieve; Lamaze, Christophe; Rodriguez, Raphael Share Save
Hemophagocytic Lymphohistiocytosis Gene Mutations in Adult Patients Presenting With CLIPPERS-Like Syndrome Taieb, Guillaume; Kaphan, Elsa; Duflos, Claire; Lebrun-Frenay, Christine; Rigau, Valerie; Thouvenot, Eric; Duhin-Gand, Emeline; Lefaucheur, Romain; Hoang-Xuan, Khe; Coulette, Sarah; Ouallet, Jean Christophe; de Champfleur, Nicolas Menjot; Tranchant, Christine; Picard, Capucine; Fusaro, Mathieu; Sepulveda, Fernando E.; Labauge, Pierre; de Saint Basile, Genevieve Share Save
Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing Fusaro, Mathieu; Rosain, Jeremie; Grandin, Virginie; Lambert, Nathalie; Hanein, Sylvain; Fourrage, Cecile; Renaud, Nicholas; Gil, Marine; Chevalier, Samuel; Abou Chahla, Wadih; Bader-Meunier, Brigitte; Barlogis, Vincent; Blanche, Stephane; Boutboul, David; Castelle, Martin; Comont, Thibault; Diana, Jean-Sebastien; Fieschi, Claire; Galicier, Lionel; Hermine, Olivier; Lefevre-Utile, Alain; Malphettes, Marion; Merlin, Etienne; Oksenhendler, Eric; Pasquet, Marlene; Suarez, Felipe; Andre, Isabelle; Beziat, Vivien; de Saint Basile, Genevieve; De Villartay, Jean-Pierre; Kracker, Sven; Lagresle-Peyrou, Chantal; Latour, Sylvain; Rieux-Laucat, Frederic; Mahlaoui, Nizar; Bole, Christine; Nitschke, Patrick; Hulier-Ammar, Elisabeth; Fischer, Alain; Moshous, Despina; Neven, Benedicte; Alcais, Alexandre; Vogt, Guillaume; Bustamante, Jacinta; Picard, Capucine Share Save
Kinesin-1 regulates antigen cross-presentation through the scission of tubulations from early endosomes in dendritic cells Belabed, Meriem; Mauvais, Francois-Xavier; Maschalidi, Sophia; Kurowska, Mathieu; Goudin, Nicolas; Huang, Jian-Dong; Fischer, Alain; de Saint Basile, Genevieve; van Endert, Peter; Sepulveda, Fernando E.; Menasche, Gael Share Save
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Chronic Intestinal Pseudo-Obstruction and Lymphoproliferative Syndrome as a Novel Phenotype Associated With Tetratricopeptide Repeat Domain 7A Deficiency El-Daher, Marie-Therese; Lemale, Julie; Bruneau, Julie; Leveau, Claire; Guerin, Frederic; Lambert, Nathalie; Diana, Jean-Sebastien; Neven, Benedicte; Sepulveda, Fernando E.; Coulomb-L'Hermine, Aurore; Molina, Thierry; Picard, Capucine; Fischer, Alain; de Saint Basile, Genevieve Share Save
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 Sonigo, G.; Battistella, M.; Beylot-Barry, M.; Oro, S.; Franck, N.; Sepulveda, F.; Bagot, M.; de Saint-Basile, G.; Michonneau, D.; de Masson, A. Share Save
A 1-Year Prospective French Nationwide Study of Emergency Hospital Admissions in Children and Adults with Primary Immunodeficiency Coignard-Biehler, Helene; Mahlaoui, Nizar; Pilmis, Benoit; Barlogis, Vincent; Brosselin, Pauline; De Vergnes, Nathalie; Debre, Marianne; Malphettes, Marion; Frange, Pierre; Catherinot, Emilie; Pellier, Isabelle; Durieu, Isabelle; Perlat, Antoinette; Royer, Bruno; Le Quellec, Alain; Jeziorski, Eric; Fischer, Alain; Lortholary, Olivier; Aaron, Laurent; Adoue, Daniel; Aguilar, Claire; Aladjidi, Nathalie; Alcais, Alexandre; Amoura, Zahir; Arlet, Philippe; Armari-Alla, Corinne; Bader-Meunier, Brigitte; Bayart, Sophie; Bertrand, Yves; Bienvenu, Boris; Blanche, Stephane; Bodet, Damien; Bonnotte, Bernard; Borie, Raphael; Boutard, Patrick; Briandet, Claire; Brion, Jean-Paul; Brouard, Jacques; Cohen-Beaussant, Sarah; Costes, Laurence; Couderc, Louis-Jean; Cougoul, Pierre; Courteille, Virginie; de Saint Basile, Genevieve; Devoldere, Catherine; Deville, Anne; Donadieu, Jean; Dore, Eric; Dulieu, Fabienne; Edan, Christine; Entz-Werle, Natacha; Fieschi, Claire; Forestier, Amandine; Fouyssac, Fanny; Gajdos, Vincent; Galicier, Lionel; Gandemer, Virginie; Gardembas, Martine; Gaud, Catherine; Guillerm, Gaelle; Hachulla, Eric; Hamidou, Mohamed; Hermine, Olivier; Hoarau, Cyrille; Humbert, Sebastien; Jaccard, Arnaud; Jacquot, Serge; Jais, Jean-Philippe; Jaussaud, Roland; Jeandel, Pierre-Yves; Kebaili, Kamila; Korganow, Anne-Sophie; Lambotte, Olivier; Lanternier, Fanny; Larroche, Claire; Lascaux, Anne-Sophie; Le Moigne, Emmanuelle; Le Moing, Vincent; Lebranchu, Yvon; Lecuit, Marc; Lefevre, Guillaume; Lemal, Richard; Te, Valerie Li Thiao; Marie-Cardine, Aude; Silva, Nicolas Martin; Masseau, Agathe; Massot, Christian; Mazingue, Francoise; Merlin, Etienne; Michel, Gerard; Millot, Frederic; Monlibert, Beatrice; Monpoux, Fabrice; Moshous, Despina; Mouthon, Luc; Munzer, Martine; Neven, Benedicte; Nove-Josserand, Raphaelle; Oksenhendler, Eric; Ouachee-Chardin, Marie; Oudot, Caroline; Pagnier, Anne; Pasquali, Jean-Louis; Pasquet, Marlene; Perel, Yves; Picard, Capucine; Piguet, Christophe; Plantaz, Dominique; Provot, Johan; Quartier, Pierre; Rieux-Laucat, Frederic; Roblot, Pascal; Roger, Pierre-Marie; Rohrlich, Pierre-Simon; Rubie, Herve; Salle, Valery; Sarrot-Reynauld, Francoise; Servettaz, Amelie; Stephan, Jean-Louis; Schleinitz, Nicolas; Suarez, Felipe; Swiader, Laure; Taque, Sophie; Thomas, Caroline; Tournilhac, Olivier; Thumerelle, Caroline; Tron, Francois; Vannier, Jean-Pierre; Viallard, Jean-Francois Share Save
The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity Seidel, Markus G.; Kindle, Gerhard; Gathmann, Benjamin; Quinti, Isabella; Buckland, Matthew; van Montfrans, Joris; Scheible, Raphael; Ruschb, 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 Veer-Donk, Frank; Villa, Anna; Weemaes, Corry; Warnatz, Klaus; Wolska, Beata; Zhang, Shen-Yin Share Save
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Genetic diagnosis of primary immunodeficiencies: A survey of the French national registry Mahlaoui, Nizar; Picard, Capucine; Bach, Perrine; Costes, Laurence; Courteille, Virginie; Ranohavimparany, Anja; Alcais, Alexandre; Jais, Jean-Philippe; Fischer, Alain; Bellanne-Chantelot, Christine; Bustamante, Jacinta; Chollet-Martin, Sylvie; Drouet, Christian; Fremeaux-Bacchi, Veronique; Kannen-Giesser, Caroline; Girardin, Virginie; Lambert, Nathalie; Proulle, Valerie; Rosain, Jeremie; Stasia, Marie Jose; Lyonnet, Dominique Stoppa; Theodorou, Ioannis; Abou-Chahla, Wadih; Adoue, Daniel; Aladjidi, Nathalie; Amoura, Zahir; Armari-Alla, Corinne; Bader-Meunier, Brigitte; Barlogis, Vincent; Bayart, Sophie; Bertrand, Yves; Blanche, Stephane; Bodet, Damien; Bonnotte, Bernard; Borie, Raphael; Boutard, Patrick; Briandet, Claire; Brion, Jean-Paul; Brouard, Jacques; Carausu, Liana; Catherinot, Emilie; Cheikh, Nathalie; Cohen-Beaussant, Sarah; Couderc, Louis-Jean; Cougoul, Pierre; Couillault, Gerard; de Saint Basile, Genevieve; Devoldere, Catherine; Deville, Anne; Dore, Eric; Dulieu, Fabienne; Durieu, Isabelle; Werle, Natacha Entz; Fieschi, Claire; Fouyssac, Fanny; Frange, Pierre; Gajdos, Vincent; Galicier, Lionel; Gandemer, Virginie; Gardembas, Martine; Gaud, Catherine; Grosbois, Bernard; Guffroy, Aurelien; Guitton, Corinne; Guillerm, Gaelle; Hachulla, Eric; Hamidou, Mohamed; Haro, Sophie; Hatchuel, Yves; Hermine, Olivier; Hoarau, Cyrille; Hoen, Bruno; Hot, Arnaud; Humbert, Sebastien; Jaccard, Arnaud; Jacquot, Serge; Jaussaud, Rolland; Jeandel, Pierre-Yves; Jeziorski, Eric; Kebaili, Kamila; Korganow, Anne-Sophie; Lambotte, Olivier; Lanternier, Fanny; Larroche, Claire; Le Quellec, Alain; Le Moigne, Emmanuelle; Le Moing, Vincent; Launay, David; Lebranchu, Yvon; Lecuit, Marc; Lefevre, Guillaume; Lemal, Richard; Li-Thiao-Te, Valerie; Lortholary, Olivier; Malphettes, Marion; Marie-Cardine, Aude; Silva, Nicolas Martin; Masseau, Agathe; Massot, Christian; Mazingue, Francoise; Merlin, Etienne; Michel, Gerard; Millot, Frederic; Monlibert, Beatrice; Monpoux, Fabrice; Moshous, Despina; Mouthon, Luc; Munzer, Martine; Neven, Benedicte; Nove-Josserand, Raphaelle; Nouar, Dalila; Oksenhendler, Eric; Ouachee-Chardin, Marie; Pagnier, Anne; Pasquet, Marlene; Pellier, Isabelle; Perel, Yves; Perlat, Antoinette; Piguet, Christophe; Plantaz, Dominique; Quartier, Pierre; Rieux-Laucat, Frederic; Roblot, Pascal; Rohrlich, Pierre-Simon; Royer, Bruno; Salle, Valery; Sarrot-Reynauld, Francoise; Servettaz, Amelie; Stephan, Jean-Louis; Schleinitz, Nicolas; Suarez, Felipe; Swiader, Laure; Taque, Sophie; Thomas, Caroline; Tournilhac, Olivier; Thumerelle, Caroline; Vannier, Jean-Pierre; Viallard, Jean-Francois Share Save
Intestinal dysbiosis in inflammatory bowel disease associated with primary immunodeficiency Sokol, Harry; Mahlaoui, Nizar; Aguilar, Claire; Bach, Perrine; Join-Lambert, Olivier; Garraffo, Aurelie; Seksik, Philippe; Danion, Francois; Jegou, Sarah; Straube, Marjolene; Lenoir, Christelle; Neven, Benedicte; Moshous, Despina; Blanche, Stephane; Pigneur, Benedicte; Goulet, Olivier; Ruemmele, Frank; Suarez, Felipe; Beaugerie, Laurent; Pannier, Stephanie; Mazingue, Francoise; Lortholary, Olivier; Galicier, Lionel; Picard, Capucine; de Saint Basile, Genevieve; Latour, Sylvain; Fischer, Alain Share Save
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 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.; Marcais, A.; Skowron, F.; Haidar, D.; Maubec, E.; Bohelay, G.; Laroche, L.; Mahe, A.; Birckel, E.; Bouaziz, J. D.; Brocheriou, 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.; Blechet, C.; Kerdraon, R.; Lamant, L.; Tournier, E.; Franck, F.; Martineau, V. Costes; Szablewski, V.; Taix, S.; Beschet, I.; Guerin, F.; Sepulveda, F.; Bagot, M.; de Saint-Basile, G.; Michonneau, D.; de Masson, A. Share Save
Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases Li, Yue; Fuehrer, Marita; Bahrami, Ehsan; Socha, Piotr; Klaudel-Dreszler, Maja; Bouzidi, Amira; Liu, Yanshan; Lehle, Anna S.; Magg, Thomas; Hollizeck, Sebastian; Rohlfs, Meino; Conca, Raffaele; Field, Michael; Warner, Neil; Mordechai, Slae; Shteyer, Eyal; Turner, Dan; Boukari, Rachida; Belbouab, Reda; Walz, Christoph; Gaidt, Moritz M.; Hornung, Veit; Baumann, Bernd; Pannicke, Ulrich; Al Idrissi, Eman; Alghamdi, Hamza Ali; Sepulveda, Fernando E.; Gil, Marine; Basile, Genevieve de Saint; Honig, Manfred; Koletzko, Sibylle; Muise, Aleixo M.; Snapper, Scott B.; Schwarz, Klaus; Klein, Christoph; Kotlarz, Daniel Share Save
Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome (vol 50, pg 1650, 2018) Gayden, Tenzin; Sepulveda, Fernando E.; Dong-Anh Khuong-Quang; 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, 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; Van-Hung Nguyen; 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, Benedicte; Michonneau, David; de Saint Basile, Genevieve; Jabado, Nada Share Save
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