Geneviève de Saint Basile

Research interests

Publications

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

  The Journal of Allergy and Clinical Immunology In Practice · 2019 · https://doi.org/10.1016/j.jaip.2019.02.004

• Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies

  Journal of Allergy and Clinical Immunology · 2017 · https://doi.org/10.1016/j.jaci.2016.12.978

• Inherited MST1 Deficiency Underlies Susceptibility to EV-HPV Infections

  PLoS ONE · 2012 · https://doi.org/10.1371/journal.pone.0044010

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

  Blood · 2011 · https://doi.org/10.1182/blood-2011-09-378364

• High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: Results of an international multicenter collaborative study

  Arthritis & Rheumatism · 2011 · https://doi.org/10.1002/art.30512

• Molecular mechanisms of biogenesis and exocytosis of cytotoxic granules

  Nature reviews. Immunology · 2010 · https://doi.org/10.1038/nri2803

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

  Blood · 2010 · https://doi.org/10.1182/blood-2010-07-298372

• X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease

  Blood · 2010 · https://doi.org/10.1182/blood-2010-06-284935

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

  Journal of Clinical Investigation · 2009 · https://doi.org/10.1172/jci40732

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

  Nature · 2006 · https://doi.org/10.1038/nature05257

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

  The Journal of Experimental Medicine · 2005 · https://doi.org/10.1084/jem.20042432

• LMO2 -Associated Clonal T Cell Proliferation in Two Patients after Gene Therapy for SCID-X1

  Science · 2003 · https://doi.org/10.1126/science.1088547

• Autoimmunity in Wiskott-Aldrich Syndrome: Risk Factors, Clinical Features, and Outcome in a Single-Center Cohort of 55 Patients

  PEDIATRICS · 2003 · https://doi.org/10.1542/peds.111.5.e622

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

  Journal of Clinical Investigation · 2003 · https://doi.org/10.1172/jci200318264

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

  Journal of Clinical Investigation · 2003 · https://doi.org/10.1172/jci18264

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

  Cell · 2003 · https://doi.org/10.1016/s0092-8674(03)00855-9

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

  The American Journal of Human Genetics · 2002 · https://doi.org/10.1086/341357

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

  Proceedings of the National Academy of Sciences · 2001 · https://doi.org/10.1073/pnas.98.3.1166

• Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

  Nature Genetics · 2000 · https://doi.org/10.1038/76024

• Gene Therapy of Human Severe Combined Immunodeficiency (SCID)-X1 Disease

  Science · 2000 · https://doi.org/10.1126/science.288.5466.669

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

  The Journal of Pediatrics · 1999 · https://doi.org/10.1016/s0022-3476(99)70246-5

• Perforin Gene Defects in Familial Hemophagocytic Lymphohistiocytosis

  Science · 1999 · https://doi.org/10.1126/science.286.5446.1957

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

  Nature Genetics · 1998 · https://doi.org/10.1038/2424

• Griscelli disease maps to chromosome 15q21 and is associated with mutations in the Myosin-Va gene

  Nature Genetics · 1997 · https://doi.org/10.1038/ng0797-289

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

  The Journal of Pediatrics · 1993 · https://doi.org/10.1016/s0022-3476(05)80951-5

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

  Nature · 1993 · https://doi.org/10.1038/361541a0

Current projects

No projects listed.