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Number of items: 6.

Lemoine, Roxane; Pachlopnik Schmid, Jana; Farin, Henner F; Bigorgne, Amélie; Debré, Marianne; Sepulveda, Fernando; Héritier, Sébastien; Lemale, Julie; Talbotec, Cécile; Rieux-Laucat, Frédéric; Ruemmele, Frank; Morali, Alain; Cathebras, Pascal; Nitschke, Patrick; Bole-Feysot, Christine; Blanche, Stéphane; Brousse, Nicole; Picard, Capucine; Clevers, Hans; Fischer, Alain; de Saint Basile, Geneviève (2014). Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency. Journal of Allergy and Clinical Immunology, 134(6):1354-1364.e6.

Sepulveda, Fernando E; Debeurme, Franck; Ménasché, Gaël; Kurowska, Mathieu; Côte, Marjorie; Pachlopnik Schmid, Jana; Fischer, Alain; de Saint Basile, Geneviève (2013). Distinct severity of HLH in both human and murine mutants with complete loss of cytotoxic effector PRF1, RAB27A, and STX11. Blood, 121(4):595-603.

Nehme, Nadine T; Pachlopnik Schmid, Jana; Debeurme, Franck; André-Schmutz, Isabelle; Lim, Annick; Nitschke, Patrick; Rieux-Laucat, Frédéric; Lutz, Patrick; Picard, Capucine; Mahlaoui, Nizar; Fischer, Alain; de Saint Basile, Geneviève (2012). MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival. Blood, 119(15):3458-3468.

Pachlopnik Schmid, Jana; Lemoine, Roxane; Nehme, Nadine; Cormier-Daire, Valéry; Revy, Patrick; Debeurme, Franck; Debré, Marianne; Nitschke, Patrick; Bole-Feysot, Christine; Legeai-Mallet, Laurence; Lim, Annick; de Villartay, Jean-Pierre; Picard, Capucine; Durandy, Anne; Fischer, Alain; de Saint Basile, Geneviève (2012). Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome"). Journal of Experimental Medicine, 209(13):2323-2330.

Pachlopnik Schmid, Jana; Ho, Chen-H; Chrétien, Fabrice; Lefebvre, Juliette M; Pivert, Gérard; Kosco-Vilbois, Marie; Ferlin, Walter; Geissmann, Frédéric; Fischer, Alain; de Saint Basile, Geneviève (2009). Neutralization of IFNγ defeats haemophagocytosis in LCMV-infected perforin- and Rab27a-deficient mice. EMBO Molecular Medicine, 1(2):112-124.

Pachlopnik Schmid, Jana; Ho, Chen-Hsuan; Diana, Julien; Pivert, Gérard; Lehuen, Agnès; Geissmann, Frédéric; Fischer, Alain; de Saint Basile, Geneviève (2008). A Griscelli syndrome type 2 murine model of hemophagocytic lymphohistiocytosis (HLH). European Journal of Immunology, 38(11):3219-3225.

This list was generated on Wed May 22 19:37:33 2019 CEST.