Geneviève de Saint Basile

Overview

Best Publications

• 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

• 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

• 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

• High Incidence of NLRP3 Somatic Mosaicism in Patients With Chronic Infantile Neurologic, Cutaneous, Articular Syndrome: Results of an International Multicenter Collaborative Study

  Naoko Tanaka;Kazushi Izawa;Megumu K. Saito;Mio Sakuma

  369
  Citations

• Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU.

  Bénédicte Neven;Isabelle Callebaut;Anne-Marie Prieur;Jérôme Feldmann

  360
  Citations

• Hematopoietic stem cell transplantation in hemophagocytic lymphohistiocytosis: a single-center report of 48 patients.

  Marie Ouachée-Chardin;Caroline Elie;Geneviève de Saint Basile;Françoise Le Deist

  346
  Citations

• Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis

  Kim Göransdotter Ericson;Bengt Fadeel;Sofie Nilsson-Ardnor;Cilla Söderhäll

  335
  Citations

• Severe combined immunodeficiency. A model disease for molecular immunology and therapy.

  Alain Fischer;Françoise Le Deist;Salima Hacein-Bey-Abina;Isabelle André-Schmutz

  321
  Citations

• Secretory cytotoxic granule maturation and exocytosis require the effector protein hMunc13-4

  Mickaël M Ménager;Mickaël M Ménager;Gaël Ménasché;Gaël Ménasché;Maryse Romao;Perrine Knapnougel;Perrine Knapnougel

  312
  Citations

• Atypical X-Linked Severe Combined Immunodeficiency Due to Possible Spontaneous Reversion of the Genetic Defect in T Cells

  Stephan;Wahn;Le Deist F;Dirksen U

  294
  Citations

• MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival

  Nadine T. Nehme;Nadine T. Nehme;Jana Pachlopnik Schmid;Jana Pachlopnik Schmid;Franck Debeurme;Franck Debeurme;Isabelle André-Schmutz;Isabelle André-Schmutz

  292
  Citations

• Immunotherapy of familial hemophagocytic lymphohistiocytosis with antithymocyte globulins: a single-center retrospective report of 38 patients.

  Nizar Mahlaoui;Marie Ouachée-Chardin;Geneviève de Saint Basile;Bénédicte Neven

  285
  Citations

• Long-term outcome after hematopoietic stem cell transplantation of a single-center cohort of 90 patients with severe combined immunodeficiency

  Bénédicte Neven;Bénédicte Neven;Sandrine Leroy;Sandrine Leroy;Hélène Decaluwe;Francoise Le Deist

  256
  Citations

• Primary hemophagocytic syndromes point to a direct link between lymphocyte cytotoxicity and homeostasis

  Gael Ménasché;Jérôme Feldmann;Alain Fischer;Geneviève De Saint Basile

  241
  Citations

• Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients.

  Silvia Giliani;Luigi Mori;Geneviève de Saint Basile;Francoise Le Deist

  214
  Citations