ArticleNature communications2015
Monozygotic twins discordant for common variable immunodeficiency reveal impaired DNA demethylation during naïve-to-memory B-cell transition.
Article in Nature communications, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers.
What it found
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Who cites it
59 citing papers in PubMed, 100 citations in OpenAlex.
- ICF syndrome: An epigenetic paradigm for primary immunodeficiencies.Journal of human immunity · 2026Review
- T-cell and monocyte DNA methylation and Wnt dysregulation in common variable immunodeficiency: an exploratory study.Frontiers in immunology · 2026Article
- Common Variable Immunodeficiency Disorders: A perspective from New Zealand.Clinical reviews in allergy & immunology · 2025Review
- Incomplete penetrance in inborn errors of immunity: A skeleton in the closet-The sequel.Journal of human immunity · 2025Review
- Beyond the Classical Triad: Atypical Presentations and Regulatory T Cell Phenotyping in a Cohort of IPEX Patients.Journal of clinical immunology · 2025Article
- Gastrointestinal Manifestations of Common Variable Immunodeficiency: A Mentored Review.Digestive diseases and sciences · 2025Review
- Exploring Monogenic, Polygenic, and Epigenetic Models of Common Variable Immunodeficiency.Human mutation · 2025Review
- 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
- Dysregulation of epigenetic modifications in inborn errors of immunity.Epigenomics · 2024Review
- The effect of HLA genotype on disease onset and severity in CTLA-4 insufficiency.Frontiers in immunology · 2024Article
- Current genetic diagnostics in inborn errors of immunity.Frontiers in pediatrics · 2024Review
- XB130 inhibits healing of diabetic skin ulcers through the PI3K/Akt signalling pathway.World journal of diabetes · 2023Article
- Comparative analysis of the DNA methylation landscape in CD4, CD8, and B memory lineages.Clinical epigenetics · 2022Article
- Single-cell Atlas of common variable immunodeficiency shows germinal center-associated epigenetic dysregulation in B-cell responses.Nature communications · 2022Article
- The pediatric common variable immunodeficiency - from genetics to therapy: a review.European journal of pediatrics · 2022Review
- Epigenetic Alterations in Inborn Errors of Immunity.Journal of clinical medicine · 2022Review
- Comprehensive phenotyping of human peripheral blood B lymphocytes in pathological conditions.Cytometry. Part A : the journal of the International Society for Analytical Cytology · 2022Article
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Common variable immunodeficiency (CVID), the most frequent primary immunodeficiency characterized by loss of B-cell function, depends partly on genetic defects, and epigenetic changes are thought to contribute to its aetiology. Here we perform a high-throughput DNA methylation analysis of this disorder using a pair of CVID-discordant MZ twins and show predominant gain of DNA methylation in CVID B cells with respect to those from the healthy sibling in critical B lymphocyte genes, such as PIK3CD, BCL2L1, RPS6KB2, TCF3 and KCNN4. Individual analysis confirms hypermethylation of these genes. Analysis in naive, unswitched and switched memory B cells in a CVID patient cohort shows impaired ability to demethylate and upregulate these genes in transitioning from naive to memory cells in CVID. Our results not only indicate a role for epigenetic alterations in CVID but also identify relevant DNA methylation changes in B cells that could explain the clinical manifestations of CVID individuals.
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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.