- Epigenetics and DNA Methylation
- Immunodeficiency and Autoimmune Disorders
- Immune cells in cancer
- Single-cell and spatial transcriptomics
- Immune Cell Function and Interaction
- Immune responses and vaccinations
- Autoimmune and Inflammatory Disorders Research
- T-cell and B-cell Immunology
- Immune Response and Inflammation
- COVID-19 Clinical Research Studies
- Long-Term Effects of COVID-19
- Immunotherapy and Immune Responses
- Rheumatoid Arthritis Research and Therapies
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Adolescent and Pediatric Healthcare
- Cancer-related molecular mechanisms research
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- RNA modifications and cancer
- Chronic Lymphocytic Leukemia Research
- SARS-CoV-2 and COVID-19 Research
- Cell Adhesion Molecules Research
- Acute Myeloid Leukemia Research
- Mycobacterium research and diagnosis
- Acute Lymphoblastic Leukemia research
- Peptidase Inhibition and Analysis
Josep Carreras Leukaemia Research Institute
2019-2024
Institut Gustave Roussy
2024
Inserm
2024
East China Normal University
2022
Institut d'Investigació Biomédica de Bellvitge
2019-2021
Abstract Common variable immunodeficiency (CVID), the most prevalent symptomatic primary immunodeficiency, displays impaired terminal B-cell differentiation and defective antibody responses. Incomplete genetic penetrance ample phenotypic expressivity in CVID suggest participation of additional pathogenic mechanisms. Monozygotic (MZ) twins discordant for are uniquely valuable studying contribution epigenetics to disease. Here, we generate a single-cell epigenomics transcriptomics census...
Tumor-associated macrophages (TAMs) are a heterogeneous population of cells whose phenotypes and functions shaped by factors that incompletely understood. Herein, we asked when where TAMs arise from blood monocytes how they evolve during tumor development. We initiated pancreatic ductal adenocarcinoma (PDAC) in inducible monocyte fate-mapping mice combined single-cell transcriptomics high-dimensional flow cytometry to profile the monocyte-to-TAM transition. revealed differentiate first into...
Objective Rheumatoid arthritis (RA) is a chronic systemic autoimmune disease that mainly targets joints. Monocytes and macrophages are critical in RA pathogenesis contribute to inflammatory lesions. These extremely plastic cells respond extracellular signals which cause epigenomic changes define their pathogenic phenotype. Here, we interrogated how DNA methylation alterations monocytes determined by signals. Methods High-throughput analyses of patients with controls vitro cytokine...
Multiple myeloma (MM) progression and myeloma-associated bone disease (MBD) are highly dependent on marrow mesenchymal stromal cells (MSCs). MM-MSCs exhibit abnormal transcriptomes, suggesting the involvement of epigenetic mechanisms governing their tumor-promoting functions prolonged osteoblast suppression. Here, we identify widespread DNA methylation alterations marrow-isolated MSCs from distinct MM stages, particularly in Homeobox genes involved osteogenic differentiation that associate...
Macrophages orchestrate tissue homeostasis and immunity. In the tumor microenvironment (TME), macrophage presence is largely associated with poor prognosis because of their reprogramming into immunosuppressive cells. We investigated effects hypoxia, a TME-associated feature, on functional, epigenetic, transcriptional macrophages found that hypoxia boosts immunogenicity. Hypoxic inflammatory are characterized by cluster proinflammatory genes undergoing ten-eleven translocation–mediated DNA...
Glucocorticoids (GCs) exert potent anti-inflammatory effects in immune cells through the glucocorticoid receptor (GR). Dendritic (DCs), central actors for coordinating responses, acquire tolerogenic properties response to GCs. Tolerogenic DCs (tolDCs) have emerged as a potential treatment various inflammatory diseases. To date, underlying cell type-specific regulatory mechanisms orchestrating GC-mediated acquisition of immunosuppressive remain poorly understood. In this study, we...
Objective The term “undifferentiated arthritis (UA)” is used to refer all cases of that do not fit a specific diagnosis. A significant percentage UA patients progress rheumatoid (RA), others different definite rheumatic disease, and the rest undergo spontaneous remission. Therapeutic intervention in with can delay or halt disease progression its long‐term consequences. It therefore inherent interest identify those high probability progressing RA who would benefit from early appropriate...
COVID-19 manifests with a wide spectrum of clinical phenotypes, ranging from asymptomatic and mild to severe critical. Severe critical patients are characterized by marked changes in the myeloid compartment, especially monocytes. However, little is known about epigenetic alterations that occur these cells during hyperinflammatory responses patients. In this study, we obtained DNA methylome transcriptome peripheral blood monocytes samples extracted CD14 + CD15- 48 11 healthy controls were...
Identifying predictive biomarkers at early stages of inflammatory arthritis is crucial for starting appropriate therapies to avoid poor outcomes. Monocytes (MOs) and macrophages, largely associated with arthritis, are contributors sensors inflammation through epigenetic modifications. In this study, we investigated associations between clinical features DNA methylation in blood synovial fluid (SF) MOs a prospective cohort patients arthritis. profiles undifferentiated (UA) exhibited marked...
Abstract In COVID‐19, hyperinflammatory and dysregulated immune responses contribute to severity. Patients with pre‐existing autoimmune conditions can therefore be at increased risk of severe COVID‐19 and/or associated sequelae, yet SARS‐CoV‐2 infection in this group has been little studied. Here, we performed single‐cell analysis peripheral blood mononuclear cells from patients three major diseases (rheumatoid arthritis, psoriasis, or multiple sclerosis) during infection. We observed...
<h3>Background</h3> Inborn errors of immunity (IEI) are a group monogenic diseases that confer susceptibility to infection, autoimmunity, and cancer. Despite the life-threatening consequences some IEI, their genetic cause remains unknown in many patients. <h3>Objective</h3> We investigated patient with an IEI etiology. <h3>Methods</h3> Whole-exome sequencing identified homozygous missense mutation gene encoding ezrin <i>(EZR),</i> substituting threonine for alanine at position 129....
Common variable immunodeficiency (CVID) is the most prevalent primary immunodeficiency, marked by hypogammaglobulinemia, poor antibody responses, and increased infection susceptibility. The COVID-19 pandemic provided a unique opportunity to study effects of prolonged viral infections on immune responses CVID patients. Here we use single-cell RNA-seq spectral flow cytometry peripheral blood samples before, during, after SARS-CoV-2 showing that patients display persistent type I interferon...
ABSTRACT OBJECTIVE Undifferentiated arthritis (UA) is the term used to cover all cases of that do not fit a specific diagnosis. A significant percentage UA patients progress rheumatoid (RA), others different definite rheumatic disease, and rest undergo spontaneous remission. Therapeutic intervention in with can delay or halt disease progression its long-term consequences. It therefore inherent interest identify those high probability progressing RA who would benefit from early appropriate...
Abstract COVID-19 manifests with a wide spectrum of clinical phenotypes, ranging from asymptomatic and mild to severe critical. Severe critical patients are characterized by marked changes in the myeloid compartment, especially monocytes. However, little is known about epigenetic alterations that occur these cells during hyperinflammatory responses patients. In this study, we obtained DNA methylome transcriptome peripheral blood monocytes samples extracted CD14+CD15-monocytes 48 11 healthy...
<h3>Background</h3> Rheumatoid Arthritis-associated Interstitial Lung Disease (RA-ILD) is an extraarticular manifestation with clear clinical relevance because it impairs quality of life and survival. Despite this, RA-ILD etiology pathogenesis are only partially understood. However, we know that fibrosis collagen deposition, aging telomere shortening, the expression mucin MUC5B gene, RA autoantibodies smoking contributing elements. A better knowledge will lead to improved outcomes for...
Abstract Patients with common variable immunodeficiency (CVID), the most prevalent symptomatic primary immunodeficiency, are characterized by hypogammaglobulinemia, poorly protective vaccine titers and increased susceptibility to infections. New pathogens such as severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), causative agent of disease 2019 (COVID-19), might constitute a particular threat these immunocompromised patients since many them experience slower recovery do not...
Abstract Glucocorticoids (GCs) exert potent anti-inflammatory effects in immune cells through the glucocorticoid receptor (GR). Dendritic (DCs), central actors for coordinating responses, acquire tolerogenic properties response to GCs. Tolerogenic DCs (tolDCs) have emerged as a potential treatment various inflammatory diseases. To date, underlying cell type-specific regulatory mechanisms orchestrating GC-mediated acquisition of immunosuppressive remain poorly understood. In this study, we...
ABSTRACT Common variable immunodeficiency (CVID), the most prevalent symptomatic primary immunodeficiency, is characterized by impaired terminal B-cell differentiation and defective antibody responses. Incomplete genetic penetrance a wide range of phenotypic expressivity in CVID suggest participation additional pathogenic mechanisms. Monozygotic (MZ) twins discordant for are uniquely valuable studying contribution epigenetics to disease. We used single-cell epigenomics transcriptomics create...