List of works - Françoise Le Deist

A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations

scientific article published on 22 May 2017

A case of C3 glomerulonephritis successfully treated with eculizumab

scientific article published on 22 March 2015

A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency

scientific article published on 31 May 2013

A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

scientific article

A hypermorphic IκBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

A new peak in the ALPS

A novel developmental and immunodeficiency syndrome associated with intrauterine growth retardation and a lack of natural killer cells

scientific article

A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection

scientific article

A serious adverse event after successful gene therapy for X-linked severe combined immunodeficiency

scientific article published in January 2003

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

scientific article published on 01 February 2007

Artemis sheds new light on V(D)J recombination

scientific article published in August 2004

Ataxia-telangiectasia presenting with a novel immunodeficiency

scientific article published on 01 May 2012

Autoimmune Lymphoproliferative Syndrome and Perforin

scientific article published on 01 January 2005

Autoimmune lymphoproliferative syndrome with somatic Fas mutations

scientific article

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

scientific article

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

Ca2+ ionophores trigger membrane remodeling without a need for store-operated Ca2+ entry

scientific article published in February 2005

Ceftazidime-induced drug reaction with eosinophilia and systemic symptoms (DRESS) complicated by hemophagocytic lymphohistiocytosis

scientific article published on 27 May 2013

Cell-death signaling and human disease

scientific article

Chronic Active Gastritis in X-linked Lymphoproliferative Disease

scientific article published on 01 February 2008

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

Clonal evidence for the transduction of CD34+ cells with lymphomyeloid differentiation potential and self-renewal capacity in the SCID-X1 gene therapy trial

scientific article published on 7 December 2004

Cord blood-derived and peripheral blood-derived cytokine-induced killer cells are sensitive to Fas-mediated apoptosis

scientific article published on 12 July 2013

Cord-blood-derived mesenchymal stromal cells downmodulate CD4+ T-cell activation by inducing IL-10-producing Th1 cells

scientific article published on 4 January 2013

Differential sensitivity of Jurkat and primary T cells to caspase-independent cell death triggered upon Fas stimulation

scientific article published on 01 August 2002

Eculizumab in severe Shiga-toxin-associated HUS

scientific article (publication date: 30 June 2011)

Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia

scientific article (publication date: May 2013)

Expression of Granzyme B in viral hepatitis in patients with ALPS.

scientific article published in March 2004

FAS-L, IL-10, and double-negative CD4- CD8- TCR alpha/beta+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function

scientific article

Familial NK cell deficiency associated with impaired IL-2- and IL-15-dependent survival of lymphocytes

scientific article published in December 2006

Fatal Mycobacterium colombiense/cytomegalovirus coinfection associated with acquired immunodeficiency due to autoantibodies against interferon gamma: a case report ⬇️

scientific article published on January 22, 2013

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

article

Hematopoietic engraftment of XLA bone marrow CD34(+) cells in NOG/SCID mice

scientific article

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

scientific article

High prevalence of primary immune deficiencies in children with autoimmune disorders

scientific article published on January 1, 2011

Human leucocyte antigen-identical haematopoietic stem cell transplantation in major histocompatiblity complex class II immunodeficiency: reduced survival correlates with an increased incidence of acute graft-versus-host disease and pre-existing viral

Human mesenchymal stromal cell-secreted lactate induces M2-macrophage differentiation by metabolic reprogramming

scientific article published on 6 April 2016

Hypomorphic mutation of ZAP70 in human results in a late onset immunodeficiency and no autoimmunity.

scientific article published in July 2009

ICON: the early diagnosis of congenital immunodeficiencies

scientific article published on 12 March 2014

Immune reconstitution without graft-versus-host disease after haemopoietic stem-cell transplantation: a phase 1/2 study

scientific article published in The Lancet

Impaired interferon-alpha production by plasmacytoid dendritic cells after cord blood transplantation in children: implication for post-transplantation toll-like receptor ligand-based immunotherapy

scientific article published on 14 August 2014

Implication of different effector mechanisms by cord blood-derived and peripheral blood-derived cytokine-induced killer cells to kill precursor B acute lymphoblastic leukemia cell lines

scientific article published on 12 February 2014

Improving immune reconstitution while preventing graft-versus-host disease in allogeneic stem cell transplantation

scientific article

Inflammatory bowel disease and T cell lymphopenia in G6PC3 deficiency

scientific article published on 20 November 2012

Inherited and somatic CD3zeta mutations in a patient with T-cell deficiency

article published in 2006

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

scientific article

Invasive group A Streptococcus disease in French-Canadian children is not associated with a defect in MyD88/IRAK4-pathway

scientific article published on 5 February 2014

Is xenotransplantation of embryonic stem cells a realistic option?

scientific article published on 01 February 2007

Kaposi’s sarcoma in a child with Wiskott-Aldrich syndrome

article by Capucine Picard et al published 7 April 2006 in European Journal of Pediatrics

Lack of detectable defect in DNA double-strand break repair and DNA-dependent protein kinase activity in radiosensitive human severe combined immunodeficiency fibroblasts

Length of storage and in vitro immunomodulation induced by prestorage leukoreduced red blood cells

scientific article published on 17 July 2009

Long-term T-cell reconstitution after hematopoietic stem-cell transplantation in primary T-cell-immunodeficient patients is associated with myeloid chimerism and possibly the primary disease phenotype

scientific article published on 01 February 2007

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 outcome following hematopoietic stem-cell transplantation in Wiskott-Aldrich syndrome: collaborative study of the European Society for Immunodeficiencies and European Group for Blood and Marrow Transplantation

scientific article published on 27 September 2007

Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications

scientific article

Mechanisms of CD47-induced caspase-independent cell death in normal and leukemic cells: link between phosphatidylserine exposure and cytoskeleton organization

scientific article published on October 2002

Multiple intestinal atresia with combined immune deficiency related to TTC7A defect is a multiorgan pathology: study of a French-Canadian-based cohort

scientific article

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

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

scientific article

Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia ⬇️

scientific article

Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy

scientific article published on 27 September 2018

Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability

scientific article published on 30 September 2016

Mycophenolate mofetil as an alternate immunosuppressor for autoimmune lymphoproliferative syndrome.

scientific article

Novel mutations in the RFXANK gene: RFX complex containing in-vitro-generated RFXANK mutant binds the promoter without transactivating MHC II.

scientific article

Omenn syndrome in an infant with IL7RA gene mutation

scientific article published on 01 February 2006

Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother

scientific article published in June 2002

Reconstitution of Protective Immune Responses against Cytomegalovirus and Varicella Zoster Virus Does Not Require Disease Development in Pediatric Recipients of Umbilical Cord Blood Transplantation ⬇️

scientific article published on October 3, 2012

Relative CD4 lymphopenia and a skewed memory phenotype are the main immunologic abnormalities in a child with Omenn syndrome due to homozygous RAG1-C2633T hypomorphic mutation

scientific article published on 25 February 2009

Renal granuloma and immunoglobulin M-complex glomerulonephritis: a case of common variable immunodeficiency?

scientific article published on 12 August 2008

Secondary pulmonary alveolar proteinosis after unrelated cord blood hematopoietic cell transplantation

scientific article published on 13 March 2011

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 ceftazidime-induced drug reaction with eosinophilia and systemic symptoms (DRESS).

scientific article published on 14 November 2011

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

scientific article

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

Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy

scientific article (publication date: 18 April 2002)

T cell-dependent activation of dendritic cells requires IL-12 and IFN-gamma signaling in T cells

scientific article

T-cell immune constitution after peripheral blood mononuclear cell transplantation in complete DiGeorge syndrome

scientific article

The VP6 protein of rotavirus interacts with a large fraction of human naive B cells via surface immunoglobulins

scientific article published on November 2004

Thymus transplantation in complete DiGeorge syndrome: immunologic and safety evaluations in 12 patients

scientific article

Treatment of the Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome (IPEX) by Allogeneic Bone Marrow Transplantation

article

Variants in TRIM22 That Affect NOD2 Signaling Are Associated With Very-Early-Onset Inflammatory Bowel Disease

scientific article published on 30 January 2016

WAO International Scientific Conference (WISC 2016) Abstracts: Jerusalem, Israel. 6–9 December 2016.

scientific article published on 20 June 2017

WHIM syndromes with different genetic anomalies are accounted for by impaired CXCR4 desensitization to CXCL12

scientific article published on 09 November 2004

Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans

scientific article

XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome

scientific article

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

scientific article published on 01 August 2006

[Hypomorphic RAG1 mutations and CMV infection: a new phenotype of severe combined immunodeficiency]

scientific article published on 01 March 2006

[Immunodeficiencies and pathologies associated with mutations in STIM/ORAI, a membrane complex in the heart of calcium signalling]

scientific article published on 31 August 2011

[Munc13-4 is essential for cytolytic granule fusion]

scientific article published on 01 February 2004

[Severe combined immunodeficiency: susceptibility to HPV?]

scientific article published on 01 February 2005

List of works by Françoise Le Deist

A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations

A case of C3 glomerulonephritis successfully treated with eculizumab

A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency

A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

A hypermorphic IκBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

A new peak in the ALPS

A novel developmental and immunodeficiency syndrome associated with intrauterine growth retardation and a lack of natural killer cells

A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection

A serious adverse event after successful gene therapy for X-linked severe combined immunodeficiency

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

Artemis sheds new light on V(D)J recombination

Ataxia-telangiectasia presenting with a novel immunodeficiency

Autoimmune Lymphoproliferative Syndrome and Perforin

Autoimmune lymphoproliferative syndrome with somatic Fas mutations

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

CD3 deficiencies

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

Ca2+ ionophores trigger membrane remodeling without a need for store-operated Ca2+ entry

Ceftazidime-induced drug reaction with eosinophilia and systemic symptoms (DRESS) complicated by hemophagocytic lymphohistiocytosis

Cell-death signaling and human disease

Chronic Active Gastritis in X-linked Lymphoproliferative Disease

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

Clonal evidence for the transduction of CD34+ cells with lymphomyeloid differentiation potential and self-renewal capacity in the SCID-X1 gene therapy trial

Cord blood-derived and peripheral blood-derived cytokine-induced killer cells are sensitive to Fas-mediated apoptosis

Cord-blood-derived mesenchymal stromal cells downmodulate CD4+ T-cell activation by inducing IL-10-producing Th1 cells

Differential sensitivity of Jurkat and primary T cells to caspase-independent cell death triggered upon Fas stimulation

Eculizumab in severe Shiga-toxin-associated HUS

Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia

Expression of Granzyme B in viral hepatitis in patients with ALPS.

FAS-L, IL-10, and double-negative CD4- CD8- TCR alpha/beta+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function

Familial NK cell deficiency associated with impaired IL-2- and IL-15-dependent survival of lymphocytes

Fatal Mycobacterium colombiense/cytomegalovirus coinfection associated with acquired immunodeficiency due to autoantibodies against interferon gamma: a case report ⬇️

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

Hematopoietic engraftment of XLA bone marrow CD34(+) cells in NOG/SCID mice

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

High prevalence of primary immune deficiencies in children with autoimmune disorders

Human leucocyte antigen-identical haematopoietic stem cell transplantation in major histocompatiblity complex class II immunodeficiency: reduced survival correlates with an increased incidence of acute graft-versus-host disease and pre-existing viral

Human mesenchymal stromal cell-secreted lactate induces M2-macrophage differentiation by metabolic reprogramming

Hypomorphic mutation of ZAP70 in human results in a late onset immunodeficiency and no autoimmunity.

ICON: the early diagnosis of congenital immunodeficiencies

Immune reconstitution without graft-versus-host disease after haemopoietic stem-cell transplantation: a phase 1/2 study

Impaired interferon-alpha production by plasmacytoid dendritic cells after cord blood transplantation in children: implication for post-transplantation toll-like receptor ligand-based immunotherapy

Implication of different effector mechanisms by cord blood-derived and peripheral blood-derived cytokine-induced killer cells to kill precursor B acute lymphoblastic leukemia cell lines

Improving immune reconstitution while preventing graft-versus-host disease in allogeneic stem cell transplantation

Inflammatory bowel disease and T cell lymphopenia in G6PC3 deficiency

Inherited and somatic CD3zeta mutations in a patient with T-cell deficiency

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

Invasive group A Streptococcus disease in French-Canadian children is not associated with a defect in MyD88/IRAK4-pathway

Is xenotransplantation of embryonic stem cells a realistic option?

Kaposi’s sarcoma in a child with Wiskott-Aldrich syndrome

Lack of detectable defect in DNA double-strand break repair and DNA-dependent protein kinase activity in radiosensitive human severe combined immunodeficiency fibroblasts

Length of storage and in vitro immunomodulation induced by prestorage leukoreduced red blood cells

Long-term T-cell reconstitution after hematopoietic stem-cell transplantation in primary T-cell-immunodeficient patients is associated with myeloid chimerism and possibly the primary disease phenotype

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

Long-term outcome following hematopoietic stem-cell transplantation in Wiskott-Aldrich syndrome: collaborative study of the European Society for Immunodeficiencies and European Group for Blood and Marrow Transplantation

Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications

Mechanisms of CD47-induced caspase-independent cell death in normal and leukemic cells: link between phosphatidylserine exposure and cytoskeleton organization

Multiple intestinal atresia with combined immune deficiency related to TTC7A defect is a multiorgan pathology: study of a French-Canadian-based cohort

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

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

Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia ⬇️

Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy

Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability

Mycophenolate mofetil as an alternate immunosuppressor for autoimmune lymphoproliferative syndrome.

Novel mutations in the RFXANK gene: RFX complex containing in-vitro-generated RFXANK mutant binds the promoter without transactivating MHC II.

Omenn syndrome in an infant with IL7RA gene mutation

Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother

Reconstitution of Protective Immune Responses against Cytomegalovirus and Varicella Zoster Virus Does Not Require Disease Development in Pediatric Recipients of Umbilical Cord Blood Transplantation ⬇️

Relative CD4 lymphopenia and a skewed memory phenotype are the main immunologic abnormalities in a child with Omenn syndrome due to homozygous RAG1-C2633T hypomorphic mutation

Renal granuloma and immunoglobulin M-complex glomerulonephritis: a case of common variable immunodeficiency?

Secondary pulmonary alveolar proteinosis after unrelated cord blood hematopoietic cell transplantation

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

Severe ceftazidime-induced drug reaction with eosinophilia and systemic symptoms (DRESS).

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

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

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

Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy

T cell-dependent activation of dendritic cells requires IL-12 and IFN-gamma signaling in T cells

T-cell immune constitution after peripheral blood mononuclear cell transplantation in complete DiGeorge syndrome