A5089302074- Immunodeficiency and Autoimmune Disorders
- RNA modifications and cancer
- Immune Cell Function and Interaction
- Chronic Lymphocytic Leukemia Research
- Gut microbiota and health
- Genomics and Rare Diseases
- Viral-associated cancers and disorders
- Long-Term Effects of COVID-19
- Erythrocyte Function and Pathophysiology
- Calcium signaling and nucleotide metabolism
- COVID-19 Clinical Research Studies
- Tryptophan and brain disorders
- Genetic Syndromes and Imprinting
- Neurogenetic and Muscular Disorders Research
- Pediatric health and respiratory diseases
- Ubiquitin and proteasome pathways
- Tuberculosis Research and Epidemiology
- Cell Adhesion Molecules Research
- Adipokines, Inflammation, and Metabolic Diseases
- Wnt/β-catenin signaling in development and cancer
- Growth Hormone and Insulin-like Growth Factors
- Cellular transport and secretion
Université Paris Cité
2021-2024
Institut des Maladies Génétiques Imagine
2021-2024
Inserm
2021-2024
Sorbonne Paris Cité
2023
Délégation Ile-de-France Villejuif
2023
Instituto Politécnico Nacional
2020
Centro de Investigación en Materiales Avanzados
2020
Instituto Nacional de Pediatria
2020
Weatherford College
2020
Interferon regulatory factor 4 (IRF4) is a transcription (TF) and key regulator of immune cell development function. We report recurrent heterozygous mutation in IRF4, p.T95R, causing an autosomal dominant combined immunodeficiency (CID) seven patients from six unrelated families. The exhibited profound susceptibility to opportunistic infections, notably Pneumocystis jirovecii , presented with agammaglobulinemia. Patients’ B cells showed impaired maturation, decreased immunoglobulin isotype...
Here, we report on a heterozygous interferon regulatory factor 4 (IRF4) missense variant identified in three patients from multigeneration family with hypogammaglobulinemia. Patients' low blood plasmablast/plasma cell and naïve CD4 CD8 T counts contrasted high terminal effector counts. Expression of the mutant IRF4 protein control lymphoblastoid B lines reduced expression BLIMP-1 XBP1 (key transcription factors plasma differentiation). In lines, as wildtype was found to bind known binding...
ABSTRACT Processes such as cell migration, phagocytosis, endocytosis, and exocytosis refer to the intense exchange of information between internal external environment in cells, known vesicular trafficking. In eukaryotic these essential cellular crosstalks are controlled by Rab GTPases proteins through diverse adaptor like SNAREs complex, coat proteins, phospholipids, kinases, phosphatases, molecular motors, actin, or tubulin cytoskeleton, among others, all necessary for appropriate...
Lipopolysaccharide (LPS)-responsive beige-like anchor (LRBA) protein was initially described as a monogenetic cause for common variable immune deficiency, syndrome characterized by low levels of B cells, defects in memory cell differentiation and hypogammaglobulinaemia. LRBA identified an LPS up-regulated gene macrophages T cells. weighs 320 kDa has 2863 amino acids. Its sequence contains multiple domains, suggesting that can act scaffolding protein. It two putative binding sites...
Antibody deficiencies encompass a wide spectrum of pathologies and constitute approximately 50 % primary immunodeficiencies; with cytometry, it is possible to evaluate the immune status rapidly, effectively at low cost.To assess, by means flow cells patients three types humoral immunodeficiencies.Using blood samples from healthy subjects were analyzed different monoclonal antibodies.Using various stains, severe decrease in B lymphocytes was shown X-linked agammaglobulinemia, as well lack...
Background: Antibody deficiencies encompass a wide spectrum of pathologies and constitute approximately 50 % primary immunodeficiencies; with cytometry, it is possible to evaluate the immune status rapidly, effectively at low cost.Objective: To assess, by means flow cells patients three types humoral immunodeficiencies.Method: Using blood samples from healthy subjects were analyzed different monoclonal antibodies.Results: various stains, severe decrease in B lymphocytes was shown X-linked...