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List of works by Geneviève de Saint Basile

A 1-Year Prospective French Nationwide Study of Emergency Hospital Admissions in Children and Adults with Primary Immunodeficiency

scientific article published on 10 August 2019

A Griscelli syndrome type 2 murine model of hemophagocytic lymphohistiocytosis (HLH).

scientific article

A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis

scientific article published on 6 June 2017

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations

scientific article

A concanavalin A-like lectin domain in the CHS1/LYST protein, shared by members of the BEACH family.

scientific article

A familial occurrence of natural killer cell-T-lymphocyte proliferation disease in two children ⬇️

scientific article published on May 15, 1991

A newly identified isoform of Slp2a associates with Rab27a in cytotoxic T cells and participates to cytotoxic granule secretion

scientific article

A non-XLA primary deficiency causes the earliest known defect of B cell differentiation in humans: a comparison with an XLA case

scientific article published on 01 June 1997

A novel immunoregulatory role for NK-cell cytotoxicity in protection from HLH-like immunopathology in mice.

scientific article published on 18 December 2014

Abnormal methylation does not prevent X inactivation in ICF patients.

scientific article published in January 1999

Angeborene hämophagozytische Lymphohistiozytose (HLH).

scientific article published on 10 May 2010

Anomalies d’expression du complexe récepteur T de l’antigène/CD3 et déficits immunitaires

scientific article published on 01 February 2007

Antibody levels to Candida albicans carbohydrate and major cytoplasmic antigens isolated from standard and patient strains

scientific article published on 01 September 1984

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

scientific article published on 01 November 1996

Author Correction: Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome

scientific article published on 01 January 2019

Autoimmune Lymphoproliferative Syndrome and Perforin

scientific article published on 01 January 2005

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

scientific article

BTKbase: a database of XLA-causing mutations. International Study Group.

scientific article

Bone marrow cells in X-linked agammaglobulinemia express pre-B-specific genes (lambda-like and V pre-B) and present immunoglobulin V-D-J gene usage strongly biased to a fetal-like repertoire.

scientific article

Brief report: correction of X-linked hyper-IgM syndrome by allogeneic bone marrow transplantation

scientific article published on 01 August 1995

Brief report: prenatal diagnosis of X-linked hyper-IgM syndrome

scientific article published on 01 April 1994

CD3 deficiencies

scientific article

CD40 ligand expression deficiency in a female carrier of the X-linked hyper-IgM syndrome as a result of X chromosome lyonization

scientific article published on 01 January 1999

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

scientific article published in Nature

CD40Lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome

article

Carrier detection and prenatal diagnosis of X-linked agammaglobulinemia

scientific article published on 01 July 1992

Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1

scientific article published on 01 September 1999

Chronic Active Gastritis in X-linked Lymphoproliferative Disease

scientific article published on 01 February 2008

Chronic Intestinal Pseudo-Obstruction and Lymphoproliferative Syndrome as a Novel Phenotype Associated With Tetratricopeptide Repeat Domain 7A Deficiency

scientific article published on 07 November 2019

Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes

scientific article

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

scientific article published on 30 November 2010

Close linkage of hypervariable marker DXS255 to disease locus of Wiskott-Aldrich syndrome

scientific article published on 01 December 1989

Close linkage of probe p212 (DXS178) to X-linked agammaglobulinemia

scientific article published on 01 December 1989

Close linkage of random DNA fragments from Xq 21.3-22 to X-linked agammaglobulinaemia (XLA)

scientific article published on 01 October 1987

Comment on Elejalde syndrome and relationship with Griscelli syndrome

scientific article published on 01 February 2003

Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation

Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation.

scientific article published on 14 July 2008

Control of Plasmodium falciparum erythrocytic cycle: γδ T cells target the red blood cell-invasive merozoites.

scientific article published in November 2011

Control of human B cell tumor growth in SCID mice by monoclonal anti-B cell antibodies

scientific article published on 01 January 1993

Cytophagic histiocytic panniculitis: is it a macrophage activation syndrome in situ?

scientific article published on 14 September 2011

Cytotoxic granule secretion by lymphocytes and its link to immune homeostasis

scientific article

DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia

scientific article published on 01 January 1995

Defective cytotoxic granule-mediated cell death pathway impairs T lymphocyte homeostasis

scientific article

Detection of 28 novel mutations in the Wiskott-Aldrich syndrome and X-linked thrombocytopenia based on multiplex PCR.

scientific article

Distinct severity of HLH in both human and murine mutants with complete loss of cytotoxic effector PRF1, RAB27A, and STX11

scientific article published on 16 November 2012

Diversity, functionality, and stability of the T cell repertoire derived in vivo from a single human T cell precursor.

scientific article published on January 2000

Dynamic Formation of Microvillus Inclusions During Enterocyte Differentiation in -Deficient Intestinal Organoids

scientific article published on 14 August 2018

EBAG9 tempers lymphocyte killing activity

scientific article

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

scientific article published on 01 May 1999

Efficacy of ruxolitinib in subcutaneous panniculitis-like T-cell lymphoma and hemophagocytic lymphohistiocytosis

scientific article published on 01 April 2020

Eleven novel JAK3 mutations in patients with severe combined immunodeficiency?including the first patients with mutations in the kinase domain ⬇️

scientific article published on October 1, 2001

FUNCTIONAL AND GENETIC TESTING IN ADULTS WITH HLH DO NOT REVEAL A CYTOTOXICITY DEFECT BUT RATHER AN INFLAMMATORY PROFILE

scientific article published on 30 April 2020

Failure of SCID-X1 gene therapy in older patients

scientific article

Familial haemophagocytosis lymphohisticytosis type 3: A case report.

scientific article published on 30 November 2016

First use of thymus transplantation therapy for FOXN1 deficiency (nude/SCID): a report of 2 cases

scientific article

Founder effect for a 26-bp deletion in the RFXANK gene in North African major histocompatibility complex class II-deficient patients belonging to complementation group B.

scientific article

Functional common gamma chain is not required for mast cell proliferation and survival.

scientific article published on 2 November 2012

Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis

article

Gastric adenocarcinoma in a patient with X-linked agammaglobulinaemia

scientific article published on 01 September 2000

Gene therapy for human severe combined immunodeficiencies

article

Gene therapy of X-linked severe combined immunodeficiency

article

Gene therapy of severe combined immunodeficiencies

scientific article published on 01 January 2001

Gene therapy of severe combined immunodeficiencies.

scientific article

Gene transfer into hematopoietic stem cells reduces HLH manifestations in a murine model of Munc13-4 deficiency

scientific article published on 21 December 2017

Gene-corrected human Munc13-4-deficient CD8+ T cells can efficiently restrict EBV-driven lymphoproliferation in immunodeficient mice.

scientific article published on 31 October 2016

Genetic defects affecting lymphocyte cytotoxicity

scientific article published on 12 April 2007

Genetic studies in severe combined immunodeficiency.

scientific article published on September 1995

Genetic study of a new X-linked recessive immunodeficiency syndrome ⬇️

scientific article published on March 1, 1992

Genotype, phenotype, and outcomes of nine patients with T-B+NK+ SCID

scientific article

Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome

scientific article published on 29 October 2018

Graded defects in cytotoxicity determine severity of hemophagocytic lymphohistiocytosis in humans and mice

scientific article published on 16 December 2013

Griscelli disease: genotype-phenotype correlation in an array of clinical heterogeneity

scientific article published in July 2002

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

scientific article

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

scientific article

Griscelli syndrome type 2: a rare and lethal disorder

scientific article published on 10 April 2008

Griscelli syndrome type 3-like phenotype with MYO-5A exon-F deletion

scientific article published on 31 October 2014

Griscelli syndrome types 1 and 2.

scientific article published on November 2002

Griscelli syndrome types 1 and 3: analysis of four new cases and long-term evaluation of previously diagnosed patients.

scientific article published on 19 June 2012

HAVCR2 mutations are associated with severe hemophagocytic syndrome in subcutaneous panniculitis-like T-cell lymphoma

scientific article published on 01 March 2020

Hematopoietic stem cell transplantation in Griscelli syndrome type 2: a single-center report on 10 patients

scientific article published on 29 April 2009

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

scientific article

Hemophagocytic lymphohistiocytosis with Munc13-4 mutation: a cause of recurrent fatal hydrops fetalis

scientific article published on 6 June 2011

Hemophagocytic syndrome: primary forms and predisposing conditions

scientific article

Heterogeneity in the molecular defect leading to the leukocyte adhesion deficiency

scientific article published on 01 October 1988

High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study

scientific article

Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases

scientific article published on 27 December 2018

Ichthyosis as the dermatological phenotype associated with TTC7A mutations

scientific article published on 31 August 2016

Identification of mutations in two major mRNA isoforms of the Chediak- Higashi syndrome gene in human and mouse ⬇️

scientific article published on July 1, 1997

IgH repertoire and Ig-related gene expression in X-linked agammaglobulinemia

scientific article published on 01 January 1993

Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency

scientific article

Immune response to Toxoplasma gondii in man. I. Common idiotypic determinants of toxoplasma-specific human antibodies

scientific article published on 01 May 1981

Immunotherapy of Familial Hemophagocytic Lymphohistiocytosis With Antithymocyte Globulins: A Single-Center Retrospective Report of 38 Patients

scientific article published on 14 August 2007

Increased radiosensitivity of granulocyte macrophage colony-forming units and skin fibroblasts in human autosomal recessive severe combined immunodeficiency

scientific article

Inherited defects causing hemophagocytic lymphohistiocytic syndrome

scientific article published on 01 December 2011

Inherited defects in lymphocyte cytotoxic activity

scientific article published on May 2010

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

scientific article

Intestinal dysbiosis in Inflammatory Bowel Disease associated with primary immunodeficiency

scientific article published on 10 October 2018

Isolated X-linked thrombocytopenia in two unrelated families is associated with point mutations in the Wiskott-Aldrich syndrome protein gene.

scientific article

Kinesin-1 Is a New Actor Involved in Platelet Secretion and Thrombus Stability.

scientific article published on 8 March 2018

Kinesin-1 controls mast cell degranulation and anaphylaxis through PI3K-dependent recruitment to the granular Slp3/Rab27b complex

scientific article published on October 2016

Kinesin-1 regulates antigen cross-presentation through the scission of tubulations from early endosomes in dendritic cells

scientific article published on 14 April 2020

LYST Controls the Biogenesis of the Endosomal Compartment Required for Secretory Lysosome Function

scientific article published on 06 January 2015

Localization of the Rab Escort Protein-2 (REP2) and Inositol 1,4,5-Trisphosphate 3-Kinase (ITPKB) Genes to Mouse Chromosome 1 byin SituHybridization and Precision of the Syntenic Regions between Mouse and Human 1q42–q44

article

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

scientific article published on 23 January 2009

Long-term survival in severe combined immune deficiency: the role of persistent maternal engraftment.

scientific article published in January 2005

Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model.

scientific article

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

scientific article published on 14 December 2011

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

scientific article published on 20 November 2003

Molecular mechanisms of biogenesis and exocytosis of cytotoxic granules

scientific article published on 16 July 2010

Motor neuronopathy in Chediak-Higashi syndrome

scientific article published on 21 June 2014

Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3).

scientific article published in November 2003

Munc13-4 regulates granule secretion in human neutrophils

scientific article

Munc13-4*rab27 complex tethers secretory lysosomes at the plasma membrane

scientific article published on January 2012

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

scientific article

Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

scientific article (publication date: June 2000)

Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency.

scientific article

Myelodysplastic features in Griscelli syndrome

scientific article published on 01 May 2004

Neutralization of IFNgamma defeats haemophagocytosis in LCMV-infected perforin- and Rab27a-deficient mice

scientific article

Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom X-inactivation causing Lesch-Nyhan syndrome in a female patient

scientific article published on 01 January 1996

Occurrence of Aortic Aneurysms in 5 Cases of Wiskott-Aldrich Syndrome

scientific article published on 24 January 2011

Occurrence of nodular lymphocyte-predominant hodgkin lymphoma in hermansky-pudlak type 2 syndrome is associated to natural killer and natural killer T cell defects.

scientific article

Omenn syndrome in an infant with IL7RA gene mutation

scientific article published on 01 February 2006

Patients of African ancestry with hemophagocytic lymphohistiocytosis share a common haplotype of PRF1 with a 50delT mutation

scientific article published on 01 July 2006

Patients with T+/lowNK+IL-2 receptor γ chain deficiency have differentially-impaired cytokine signaling resulting in severe combined immunodeficiency

scientific article published on 28 August 2014

Pediatric hemophagocytic syndromes: a diagnostic and therapeutic challenge

scientific article published on 15 December 2005

Perforin gene defects in familial hemophagocytic lymphohistiocytosis.

scientific article

Perforin-dependent apoptosis functionally compensates Fas deficiency in activation-induced cell death of human T lymphocytes

scientific article published on 27 August 2007

Persistence of natural killer cells with expansion of a hypofunctional CD56-CD16+KIR+NKG2C+ subset in a patient with atypical Janus kinase 3-deficient severe combined immunodeficiency

scientific article published on 12 October 2012

Pneumocystis jiroveci Pneumonia Revealing De Novo Mutation Causing X-Linked Hyper-IgM Syndrome in an Infant Male. The First Case Reported From French Guiana

article

Polygenic mutations in the cytotoxicity pathway increase susceptibility to develop HLH immunopathology in mice

scientific article

Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome")

scientific article

Premature birth, respiratory distress, intracerebral hemorrhage, and silvery-gray hair: differential diagnosis of the 3 types of Griscelli syndrome

scientific article published on 01 August 2010

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

scientific article

Primary membrane T cell immunodeficiencies ⬇️

scientific article published on November 1, 1991

Progressive neurologic dysfunctions 20 years after allogeneic bone marrow transplantation for Chediak-Higashi syndrome.

scientific article published on 24 March 2005

Prostaglandin E2 and plasminogen activators in human milk and their secretion by milk macrophages

scientific article published on 01 May 1986

Rab27A and its effector MyRIP link secretory granules to F-actin and control their motion towards release sites

scientific article

Rab27a controls HIV-1 assembly by regulating plasma membrane levels of phosphatidylinositol 4,5-bisphosphate

scientific article

Rab27a: A key to melanosome transport in human melanocytes

scientific article

Regulation of prostaglandin E2 and plasminogen activator by various immunomodulators in human monocytes

scientific article published on 01 March 1986

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

scientific article

Severe and progressive encephalitis as a presenting manifestation of a novel missense perforin mutation and impaired cytolytic activity

scientific article published on 14 December 2004

Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3

scientific article

Severe combined immunodeficiency with quantitatively normal but abnormally differentiated T lymphocytes

scientific article published on 01 August 1981

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

scientific article

Severe cutaneous papillomavirus disease after haemopoietic stem-cell transplantation in patients with severe combined immune deficiency caused by common gammac cytokine receptor subunit or JAK-3 deficiency

scientific article published in June 2004

Signaling lymphocytic activation molecule (SLAM) regulates T cellular cytotoxicity.

scientific article

Synaptic release of CCL5 storage vesicles triggers CXCR4 surface expression promoting CTL migration in response to CXCL12.

scientific article published on 10 October 2014

T-lymphocyte differentiation and proliferation in the absence of the cytoplasmic tail of the common cytokine receptor gamma c chain in a severe combined immune deficiency X1 patient

scientific article published on 01 September 1996

TTC7A mutations disrupt intestinal epithelial apicobasal polarity

scientific article

TTC7A, a critical effector for the intestinal and immune system homeostasis

scientific article published in June 2014

Terminal transport of lytic granules to the immune synapse is mediated by the kinesin-1/Slp3/Rab27a complex

scientific article published on 3 February 2012

Tetratricopeptide repeat domain 7A is a nuclear factor that modulates transcription and chromatin structure

scientific article published on 13 November 2018

The munc13-4-rab27 complex is specifically required for tethering secretory lysosomes at the plasma membrane

scientific article published on 21 June 2011

The murine interleukin-2 receptor gamma chain gene: organization, chromosomal localization and expression in the adult thymus.

scientific article published in December 1994

The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2

scientific article published on 12 February 2013

The role of cytotoxicity in lymphocyte homeostasis.

scientific article

Therapeutic effect of JAK1/2 blockade on the manifestations of hemophagocytic lymphohistiocytosis in mice.

scientific article

Thérapie génique des déficits immunitaires héréditaires

scientific article published on 01 January 1996

Tissue-specific activity of the gammac chain gene promoter depends upon an Ets binding site and is regulated by GA-binding protein.

scientific article

Ttc7a regulates hematopoietic stem cell functions while controlling the stress-induced response

scientific article published on 19 April 2019

Two genes are responsible for Griscelli syndrome at the same 15q21 locus.

scientific article

Variant forms of X-linked severe combined immunodeficiency disease: one or many genes?

scientific article published on 01 January 1993

WASPbase: a database of WAS- and XLT-causing mutations

Wiskott-Aldrich syndrome carrier detection with the hypervariable marker M27β

scientific article published on 01 May 1992

X-linked immunodeficiencies: clues to genes involved in T- and B-cell differentiation ⬇️

scientific article published on December 1, 1991

X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene

scientific journal article

XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome

scientific article

Xp21 DNA microdeletion in a patient with chronic granulomatous disease, retinitis pigmentosa, and McLeod phenotype

scientific article published on 01 September 1988

[Complications of the prolonged use of lipid emulsion in children on parenteral nutrition]

scientific article published on 01 December 1985

[Defect in lytic granule exocytosis: several causes, a same effect]

scientific article published on 01 August 2006

[Gene therapy for immune deficiencies]

scientific article published on 01 January 2000

[Gene therapy of severe combined immunodeficiencies]

scientific article published on 01 June 2000

[Genetic defects in control of T cell activation evolving in a syndrome of lymphohistiocytic activation]

scientific article published on 01 January 1999

[Immunologic study of familial lymphohistiocytosis. Eight new case reports (author's transl)]

scientific article published on 01 March 1982

[Munc13-4 is essential for cytolytic granule fusion]

scientific article published on 01 February 2004

[Secretory cytotoxic granule maturation is required to their lytic contents excretion]

scientific article published on 01 May 2007

gamma-c gene transfer into SCID X1 patients' B-cell lines restores normal high-affinity interleukin-2 receptor expression and function.

scientific article published on April 1996

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