Faculty, Staff and Student Publications

Publication Date

1-1-2024

Journal

Epigenomics

DOI

10.1080/17501911.2024.2410695

PMID

39404224

PMCID

PMC11534118

PubMedCentral® Posted Date

10-15-2024

PubMedCentral® Full Text Version

Post-print

Abstract

Inborn errors of immunity (IEIs) are a group of typically monogenic disorders characterized by dysfunction in the immune system. Individuals with these disorders experience increased susceptibility to infections, autoimmunity and malignancies due to abnormal immune responses. Epigenetic modifications, including DNA methylation, histone modifications and chromatin remodeling, have been well explored in the regulation of immune cell development and effector function. Aberrant epigenetic modifications can disrupt gene expression profiles crucial for immune responses, resulting in impaired immune cell differentiation and function. Dysregulation of these processes caused by mutations in genes involving in epigenetic modifications has been associated with various IEIs. In this review article, we focus on IEIs that are caused by mutations in 13 genes involved in the regulation of DNA methylation, histone modification and chromatin remodeling.

Keywords

Humans, Epigenesis, Genetic, DNA Methylation, Chromatin Assembly and Disassembly, Animals, Histone Code, Mutation, Immunity, Immune System Diseases, Histones, DNA methylation, epigenetics, histone modifications, inborn errors of immunity, transcription regulation

Published Open-Access

yes

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