ArticleFrontiers in immunology2019
Impaired CpG Demethylation in Common Variable Immunodeficiency Associates With B Cell Phenotype and Proliferation Rate.
Article in Frontiers in immunology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 32 citations in OpenAlex.
- T-cell and monocyte DNA methylation and Wnt dysregulation in common variable immunodeficiency: an exploratory study.Frontiers in immunology · 2026Article
- Incomplete penetrance in inborn errors of immunity: A skeleton in the closet-The sequel.Journal of human immunity · 2025Review
- 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
- Immunogenetic Landscape in Pediatric Common Variable Immunodeficiency.International journal of molecular sciences · 2024Review
- Altered Genome-Wide DNA Methylation in the Duodenum of Common Variable Immunodeficiency Patients.Journal of clinical immunology · 2024Article
- Inborn errors of immunity: an expanding universe of disease and genetic architecture.Nature reviews. Genetics · 2024Review
- Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency.Journal of clinical immunology · 2024Article
- Current genetic diagnostics in inborn errors of immunity.Frontiers in pediatrics · 2024Review
- Genetics and clinical phenotypes in common variable immunodeficiency.Frontiers in genetics · 2023Article
- The pediatric common variable immunodeficiency - from genetics to therapy: a review.European journal of pediatrics · 2022Review
- Progressive B cell depletion in human MALT1 deficiency.Clinical and experimental immunology · 2021Article
- The impact of rare and low-frequency genetic variants in common variable immunodeficiency (CVID).Scientific reports · 2021Article
- Beyond monogenetic rare variants: tackling the low rate of genetic diagnoses in predominantly antibody deficiency.Cellular & molecular immunology · 2021Review
- Defective Bcl-2 expression in memory B cells from common variable immunodeficiency patients.Clinical and experimental immunology · 2021Article
- Incomplete penetrance in primary immunodeficiency: a skeleton in the closet.Human genetics · 2020Review
- Recent advances in elucidating the genetics of common variable immunodeficiency.Genes & diseases · 2020Review
- Article
- Understanding the Relevance of DNA Methylation Changes in Immune Differentiation and Disease.Genes · 2020Review
- Dissection of the Pre-Germinal Center B-Cell Maturation Pathway in Common Variable Immunodeficiency Based on Standardized Flow Cytometric EuroFlow Tools.Frontiers in immunology · 2020Article
Corrections and comments
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Authors and funding
9 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Common Variable Immunodeficiency (CVID) is characterized by impaired antibody production and poor terminal differentiation of the B cell compartment, yet its pathogenesis is still poorly understood. We first reported the occurrence of epigenetic alterations in CVID by high-throughput methylation analysis in CVID-discordant monozygotic twins. Data from a recent whole DNA methylome analysis throughout different stages of normal B cell differentiation allowed us to design a new experimental approach. We selected CpG sites for analysis based on two criteria: one, CpGs with potential association with the transcriptional status of relevant genes for B cell activation and differentiation; and two, CpGs that undergo significant demethylation from naïve to memory B cells in healthy individuals. DNA methylation was analyzed by bisulfite pyrosequencing of specific CpG sites in sorted naïve and memory B cell subsets from CVID patients and healthy donors. We observed impaired demethylation in two thirds of the selected CpGs in CVID memory B cells, in genes that govern B cell-specific processes or participate in B cell signaling. The degree of demethylation impairment associated with the extent of the memory B cell reduction. The impaired demethylation in such functionally relevant genes as
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