Language
English
Publication Date
11-1-2023
Journal
Trends in Immunology
DOI
10.1016/j.it.2023.09.005
PMID
37813732
PMCID
PMC10615875
PubMedCentral® Posted Date
11-1-2024
PubMedCentral® Full Text Version
Author MSS
Abstract
Inborn errors of immunity (IEIs) comprise a variety of immune conditions leading to infections, autoimmunity, allergy, and cancer. Some IEIs have no identified mutation(s), while others with identical mutations can display heterogeneous presentations. These observations suggest the involvement of epigenetic mechanisms. Epigenetic alterations can arise from downstream activation of cellular pathways through both extracellular stimulation and genetic-associated changes, impacting epigenetic enzymes or their interactors. Therefore, we posit that epigenetic alterations and genetic defects do not exclude each other as a disease-causing etiology. In this opinion, encompassing both basic and clinical viewpoints, we focus on selected IEIs with mutations in transcription factors that interact with epigenetic enzymes. The intricate interplay between these factors offers insights into genetic and epigenetic mechanisms in IEIs.
Keywords
Humans, Autoimmunity, Epigenesis, Genetic, Epigenomics, Hypersensitivity, Mutation, primary immunodeficiencies, inborn errors of immunity, transcription factors, epigenetics
Published Open-Access
yes
Recommended Citation
Rodríguez-Ubreva, Javier; Calvillo, Celia L; Forbes Satter, Lisa R; et al., "Interplay Between Epigenetic and Genetic Alterations in Inborn Errors of Immunity" (2023). Faculty, Staff and Students Publications. 7633.
https://digitalcommons.library.tmc.edu/baylor_docs/7633