A5047506862- Autoimmune and Inflammatory Disorders Research
- Immune Cell Function and Interaction
- Immunodeficiency and Autoimmune Disorders
- Parvovirus B19 Infection Studies
- T-cell and B-cell Immunology
- Lysosomal Storage Disorders Research
- Virus-based gene therapy research
- Adolescent and Pediatric Healthcare
- Cytomegalovirus and herpesvirus research
- Neurogenetic and Muscular Disorders Research
- Chronic Lymphocytic Leukemia Research
- Acute Lymphoblastic Leukemia research
- Cellular transport and secretion
- CAR-T cell therapy research
- Inflammasome and immune disorders
- Glycosylation and Glycoproteins Research
- Family and Disability Support Research
- Cell Adhesion Molecules Research
- Biochemical and Molecular Research
- Genetics and Neurodevelopmental Disorders
- Lymphoma Diagnosis and Treatment
- Cellular Mechanics and Interactions
- Pneumocystis jirovecii pneumonia detection and treatment
- Galectins and Cancer Biology
- T-cell and Retrovirus Studies
Hôpital Necker-Enfants Malades
2016-2025
Institut des Maladies Génétiques Imagine
2015-2024
Université Paris Cité
2015-2024
Assistance Publique – Hôpitaux de Paris
2015-2024
Centre de Référence Déficits Immunitaires Héréditaires
2015-2024
Inserm
2014-2023
Assistance Publique Hôpitaux de Marseille
2021
European Society for Blood and Marrow Transplantation
2021
Hôpital Gui de Chauliac
2021
Allen Institute for Brain Science
2021
We have previously shown correction of X-linked severe combined immunodeficiency [SCID-X1, also known as gamma chain (gamma(c)) deficiency] in 9 out 10 patients by retrovirus-mediated gamma(c) gene transfer into autologous CD34 bone marrow cells. However, almost 3 years after therapy, uncontrolled exponential clonal proliferation mature T cells (with gammadelta+ or alphabeta+ cell receptors) has occurred the two youngest patients. Both patients' clones showed retrovirus vector integration...
Severe combined immunodeficiency–X1 (SCID-X1) is an X-linked inherited disorder characterized by early block in T and natural killer (NK) lymphocyte differentiation. This caused mutations of the gene encoding γc cytokine receptor subunit interleukin-2, -4, -7, -9, -15 receptors, which participates delivery growth, survival, differentiation signals to lymphoid progenitors. After preclinical studies, a therapy trial for SCID-X1 was initiated, based on use complementary DNA containing defective...
Familial hemophagocytic lymphohistiocytosis (FHL) is a rare, rapidly fatal, autosomal recessive immune disorder characterized by uncontrolled activation of T cells and macrophages overproduction inflammatory cytokines. Linkage analyses indicate that FHL genetically heterogeneous linked to 9q21.3-22, 10q21-22, or another as yet undefined locus. Sequencing the coding regions perforin gene eight unrelated 10q21-22–linked patients revealed homozygous nonsense mutations in four missense other...
Somatically mutated IgM + -only and IgD CD27 B lymphocytes comprise ≈25% of the human peripheral cell pool. These cells phenotypically resemble class-switched have therefore been classified as postgerminal center memory cells. X-linked hyper patients a genetic defect characterized by mutation CD40L gene. patients, who do not express functional CD40 ligand, cannot switch Ig isotypes form germinal centers We report here that an subset with somatically receptors is generated in these implying...
Familial hemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous autosomal recessive immune disorder characterized by the occurrence of uncontrolled activation lymphocytes and macrophages infiltrating multiple organs. Disease-causing mutations in perforin (PRF1; also known as FHL2), Munc13-4 (UNC13D; FHL3), syntaxin-11 (STX11; FHL4) genes have been identified individuals with FHL. These all encode proteins involved cytotoxic activity lymphocytes. Here, we show that gene...
SAP is an adaptor protein expressed in T cells and natural killer cells. It plays a critical role immunity, as it mutated humans with X-linked lymphoproliferative syndrome (XLP), fatal immunodeficiency characterized by abnormal response to Epstein-Barr virus (EBV) infection. interacts the SLAM family receptors promotes transduction signal events these through its capacity recruit activate Src kinase FynT. Because has been previously established that FynT selectively required for development...
Chronic infantile neurologic, cutaneous, articular (CINCA) syndrome, also known as neonatal-onset multisystem inflammatory disease (NOMID), is a dominantly inherited systemic autoinflammatory disease. Although heterozygous germline gain-of-function NLRP3 mutations are cause of this disease, conventional genetic analyses fail to detect disease-causing in ∼40% patients. Since somatic mosaicism has been detected several mutation-negative NOMID/CINCA syndrome patients, we undertook study...
To evaluate the occurrence of autoimmune and inflammatory complications in Wiskott-Aldrich syndrome (WAS) to determine risk factors prognosis such with aim improving definition treatment options.We reviewed records 55 patients WAS evaluated at Necker-Enfants Malades Hospital (Paris) from 1980 2000.Forty (72%) had least 1 or complication. Autoimmune hemolytic anemia was detected 20 cases (36%); all cases, onset occurred before age 5 years. Other included neutropenia (25%), arthritis (29%),...