Françoise Le Deist

Centre Hospitalier Universitaire Sainte-Justine — Canada

Immunology and Microbiology · Life Sciences

88h-index34.8kcitations284works0.02yr avg
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Research Topics

Immunodeficiency and Autoimmune Disorders(112), Immune Cell Function and Interaction(95), Cytomegalovirus and herpesvirus research(39), T-cell and B-cell Immunology(38), Hematopoietic Stem Cell Transplantation(34)

Publications283 total

Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy
The American Journal of Human Genetics·2018· 59 citedOpen Access
Mutations in GPAA1 , Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia
The American Journal of Human Genetics·2017· 64 citedOpen Access
A Novel <i>PGM3</i> Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations
Journal of Bone and Mineral Research·2017· 30 citedOpen Access
Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy
Human Molecular Genetics·2017· 44 citedOpen Access
Combined T- and B-Cell Immunodeficiencies
2016· 3 cited
Mutations in the phosphatidylinositol glycan C (<i>PIGC</i>) gene are associated with epilepsy and intellectual disability
Journal of Medical Genetics·2016· 48 cited
Human mesenchymal stromal cell-secreted lactate induces M2-macrophage differentiation by metabolic reprogramming
Oncotarget·2016· 173 citedOpen Access
Variants in TRIM22 That Affect NOD2 Signaling Are Associated With Very-Early-Onset Inflammatory Bowel Disease
Gastroenterology·2016· 109 citedOpen Access
Pillars Article: Perforin Gene Defects in Familial Hemophagocytic Lymphohistiocytosis. <i>Science.</i> 1999. 286: 1957–1959
The Journal of Immunology·2015· 8 cited
A case of C3 glomerulonephritis successfully treated with eculizumab
Pediatric Nephrology·2015· 33 cited
« Mutations hypomorphiques de RAG1 et infections à CMV : un nouveau phénotype de déficit immunitaire / Hypomorphic RAG1 mutations and CMV infection : A new phenotype of severe combined immunodeficiency »
2015
« Déficit immunitaire combiné sévère : une susceptibilité aux HPV ? / Severe combined immunodeficiency : susceptibility to HPV ? »
2015
Multiple Intestinal Atresia With Combined Immune Deficiency Related to TTC7A Defect Is a Multiorgan Pathology
Medicine·2014· 43 citedOpen Access
P-102: Bioavailability and tolerance of high doses vitamin D in children with newly diagnosed Crohn’s disease
Journal of Crohn s and Colitis·2014· 1 citedOpen Access
Impaired Interferon-Alpha Production by Plasmacytoid Dendritic Cells after Cord Blood Transplantation in Children: Implication for Post-transplantation Toll-Like Receptor Ligand–Based Immunotherapy
Biology of Blood and Marrow Transplantation·2014· 8 cited
ICON: The Early Diagnosis of Congenital Immunodeficiencies
Journal of Clinical Immunology·2014· 42 citedOpen Access
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
Cytotherapy·2014· 20 cited
Invasive group A Streptococcus disease in French-Canadian children is not associated with a defect in MyD88/IRAK4-pathway
Allergy Asthma and Clinical Immunology·2014· 4 citedOpen Access
Whole-Exome Sequencing Reveals a Rapid Change in the Frequency of Rare Functional Variants in a Founding Population of Humans
PLoS Genetics·2013· 91 citedOpen Access
Cord Blood–Derived and Peripheral Blood–Derived Cytokine-Induced Killer Cells Are Sensitive to Fas-Mediated Apoptosis
Biology of Blood and Marrow Transplantation·2013· 7 citedOpen Access
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Frequent Co-authors

Alain Fischer(43), Geneviève de Saint Basile(19), Marina Cavazzana(17), Jean‐Laurent Casanova(14), Jean‐Pierre de Villartay(11), Stéphane Blanche(10), Despina Moshous(7), Anne Durandy(7), Frédéric Rieux‐Laucat(6), C Griscelli(6), Salima Hacein‐Bey‐Abina(5), Régina de Chasseval(5), Pierre Bordigoni(5), Stéphane Blanche(5), Stéphanie Certain(4), Claire Hivroz(4), Frédéric Altare(4), Sophie Dupuis‐Girod(4), Nizar Mahlaoui(4), Capucine Pïcard(4)