ArticleNature communications2022
Single-cell Atlas of common variable immunodeficiency shows germinal center-associated epigenetic dysregulation in B-cell responses.
Article in Nature communications, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 49 citations in OpenAlex.
- RNA mActa pharmacologica Sinica · 2026Review
- scImmuneCo: a compendium of cell-type-specific functional modules for decoding immune responses from single-cell RNA-seq data.Briefings in bioinformatics · 2026Article
- ICF syndrome: An epigenetic paradigm for primary immunodeficiencies.Journal of human immunity · 2026Review
- Incomplete penetrance in inborn errors of immunity: A skeleton in the closet-The sequel.Journal of human immunity · 2025Review
- Review
- Exploring Monogenic, Polygenic, and Epigenetic Models of Common Variable Immunodeficiency.Human mutation · 2025Review
- Common variable immunodeficiency: autoimmune cytopenias and advances in molecular diagnosis.Hematology. American Society of Hematology. Education Program · 2024Review
- COVID-19 progression and convalescence in common variable immunodeficiency patients show dysregulated adaptive immune responses and persistent type I interferon and inflammasome activation.Nature communications · 2024Article
- Revealing disease subtypes and heterogeneity in common variable immunodeficiency through transcriptomic analysis.Scientific reports · 2024Article
- Immunogenetic Landscape in Pediatric Common Variable Immunodeficiency.International journal of molecular sciences · 2024Review
- The Horse with Recurrent Fevers and Infections: Approach to Common Variable Immunodeficiency.The Veterinary clinics of North America. Equine practice · 2024Review
- Altered Genome-Wide DNA Methylation in the Duodenum of Common Variable Immunodeficiency Patients.Journal of clinical immunology · 2024Article
- Role of B Cells beyond Antibodies in HBV-Induced Oncogenesis: Fulminant Cancer in Common Variable Immunodeficiency-Clinical and Immunotransplant Implications with a Review of the Literature.Diseases (Basel, Switzerland) · 2024Article
- Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency.Journal of clinical immunology · 2024Article
- Immune Homeostasis: A Novel Example of Teamwork.Methods in molecular biology (Clifton, N.J.) · 2024Article
- Dysregulation of epigenetic modifications in inborn errors of immunity.Epigenomics · 2024Review
- Plasma Levels of mir-34a-5p Correlate with Systemic Inflammation and Low Naïve CD4 T Cells in Common Variable Immunodeficiency.Journal of clinical immunology · 2023Article
- Interplay between epigenetic and genetic alterations in inborn errors of immunity.Trends in immunology · 2023Review
- Defining and identifying cell sub-crosstalk pairs for characterizing cell-cell communication patterns.Scientific reports · 2023Article
- YAP/TAZ: Molecular pathway and disease therapy.MedComm · 2023Review
Corrections and comments
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Authors and funding
27 authors at 11 institutions in 4 countries.
Funding
Abstract
Common variable immunodeficiency (CVID), the most prevalent symptomatic primary immunodeficiency, displays impaired terminal B-cell differentiation and defective antibody responses. Incomplete genetic penetrance and ample phenotypic expressivity in CVID suggest the participation of additional pathogenic mechanisms. Monozygotic (MZ) twins discordant for CVID are uniquely valuable for studying the contribution of epigenetics to the disease. Here, we generate a single-cell epigenomics and transcriptomics census of naïve-to-memory B cell differentiation in a CVID-discordant MZ twin pair. Our analysis identifies DNA methylation, chromatin accessibility and transcriptional defects in memory B-cells mirroring defective cell-cell communication upon activation. These findings are validated in a cohort of CVID patients and healthy donors. Our findings provide a comprehensive multi-omics map of alterations in naïve-to-memory B-cell transition in CVID and indicate links between the epigenome and immune cell cross-talk. Our resource, publicly available at the Human Cell Atlas, gives insight into future diagnosis and treatments of CVID patients.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.