Geneviève de Saint Basile

Research.com Recognitions

• Member of the European Molecular Biology Organization (EMBO)
• Member of the European Molecular Biology Organization (EMBO)

Overview

Best Publications

• LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1.

  S. Hacein-Bey-Abina;C. Von Kalle;C. Von Kalle;M. Schmidt;M. P. McCormack

  4518
  Citations

• Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease

  Marina Cavazzana-Calvo;Salima Hacein-Bey;Geneviève De Saint Basile;Fabian Gross

  3479
  Citations

• Perforin Gene Defects in Familial Hemophagocytic Lymphohistiocytosis

  Susan E. Stepp;Rémi Dufourcq-Lagelouse;Françoise Le Deist;Françoise Le Deist;Sadhna Bhawan

  1513
  Citations

• Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome.

  Ménasché G;Pastural E;Feldmann J;Certain S

  1315
  Citations

• Munc13-4 Is Essential for Cytolytic Granules Fusion and Is Mutated in a Form of Familial Hemophagocytic Lymphohistiocytosis (FHL3)

  Jérôme Feldmann;Isabelle Callebaut;Graça Raposo;Stéphanie Certain

  1098
  Citations

• CD40 ligand mutations in X-linked immunodeficiency with hyper-IgM

  J. P. Disanto;J. Y. Bonnefoy;J. F. Gauchat;A. Fischer

  1016
  Citations

• Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene

  Alison J. Coffey;Robert A. Brooksbank;Oliver Brandau;Toshitaka Oohashi

  879
  Citations

• Chronic Infantile Neurological Cutaneous and Articular Syndrome Is Caused by Mutations in CIAS1, a Gene Highly Expressed in Polymorphonuclear Cells and Chondrocytes

  Jérôme Feldmann;Anne-Marie Prieur;Pierre Quartier;Patrick Berquin

  856
  Citations

• XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome

  Stéphanie Rigaud;Marie-Claude Fondanèche;Nathalie Lambert;Nathalie Lambert;Benoit Pasquier

  796
  Citations

• CD40-CD40L independent Ig gene hypermutation suggests a second B cell diversification pathway in humans

  Sandra Weller;Ahmad Faili;Corinne Garcia;Moritz C. Braun

  596
  Citations

• The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity

  Markus G. Seidel;Gerhard Kindle;Benjamin Gathmann;Isabella Quinti

  588
  Citations

• Molecular mechanisms of biogenesis and exocytosis of cytotoxic granules.

  Geneviève de Saint Basile;Geneviève de Saint Basile;Geneviève de Saint Basile;Gaël Ménasché;Gaël Ménasché;Alain Fischer;Alain Fischer;Alain Fischer

  538
  Citations

• Griscelli Disease Maps to Chromosome 15q21 and Is Associated With Mutations in the myosin-Va Gene

  Pastural E;Barrat Fj;Dufourcq-Lagelouse R;Certain S

  537
  Citations

• Severe combined immunodeficiency: A retrospective single-center study of clinical presentation and outcome in 117 patients

  J.L. Stephan;V. Vlekova;F. Le Deist;S. Blanche

  426
  Citations

• Defective NKT cell development in mice and humans lacking the adapter SAP, the X-linked lymphoproliferative syndrome gene product

  Benoit Pasquier;Luo Yin;Marie-Claude Fondanèche;Francis Relouzat

  425
  Citations

• Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells.

  Marjorie Côte;Mickaël M. Ménager;Agathe Burgess;Nizar Mahlaoui

  419
  Citations

• Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients.

  Sophie Dupuis-Girod;Jacques Medioni;Elie Haddad;Pierre Quartier

  405
  Citations

• Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP-deficiency) versus type 2 (XLP-2/XIAP-deficiency)

  Jana Pachlopnik Schmid;Jana Pachlopnik Schmid;Danielle Canioni;Despina Moshous;Despina Moshous;Fabien Touzot

  399
  Citations

• Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)

  Gaël Ménasché;Chen Hsuan Ho;Ozden Sanal;Jérôme Feldmann

  392
  Citations

• Early and prolonged intravenous immunoglobulin replacement therapy in childhood agammaglobulinemia: a retrospective survey of 31 patients.

  Pierre Quartier;Marianne Debré;Jacques De Blic;Rodolphe de Sauverzac

  390
  Citations