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Review
. 2022 Feb 25;11(5):1261.
doi: 10.3390/jcm11051261.

Epigenetic Alterations in Inborn Errors of Immunity

Roberta Romano  1 , Francesca Cillo  1 , Cristina Moracas  1 , Laura Pignata  2 , Chiara Nannola  1 , Elisabetta Toriello  1 , Antonio De Rosa  1 , Emilia Cirillo  1 , Emma Coppola  1 , Giuliana Giardino  1 , Nicola Brunetti-Pierri  1 , Andrea Riccio  2 , Claudio Pignata  1
Affiliations
Review

Epigenetic Alterations in Inborn Errors of Immunity

Roberta Romano et al. J Clin Med. .

Abstract

The epigenome bridges environmental factors and the genome, fine-tuning the process of gene transcription. Physiological programs, including the development, maturation and maintenance of cellular identity and function, are modulated by intricate epigenetic changes that encompass DNA methylation, chromatin remodeling, histone modifications and RNA processing. The collection of genome-wide DNA methylation data has recently shed new light into the potential contribution of epigenetics in pathophysiology, particularly in the field of immune system and host defense. The study of patients carrying mutations in genes encoding for molecules involved in the epigenetic machinery has allowed the identification and better characterization of environment-genome interactions via epigenetics as well as paving the way for the development of new potential therapeutic options. In this review, we summarize current knowledge of the role of epigenetic modifications in the immune system and outline their potential involvement in the pathogenesis of inborn errors of immunity.

Keywords: DNA methylation; epigenetics; inborn errors of immunity.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
(A) Chromosomes formed by chromatin fibers organized into nucleosomes, in which they are wrapped around eight histone proteins (as shown in the red box, zooming in chromosome structure). On a deeper level, DNA methyltransferases (DNMTs) act on double-stranded DNA, adding a methyl group to the carbon 5 (5meC) of cytosine-followed-by-guanine dinucleotides, while Ten-Eleven Translocation (TET) enzymes are responsible for demethylation, removing a 5meC (red X in the figure). (B) The differentiation from a common progenitor, a hematopoietic stem cell, to lymphoid and myeloid lineage, is accompanied by a wave of increasing methylation or demethylation, respectively. DNMTs: DNA methyltransferases, TET: Ten-Eleven Translocation; HSC: hematopoietic stem cell, CLP: common lymphoid progenitor, CMP: common myeloid progenitor, PMN: polymorphonucleate.
See this image and copyright information in PMC

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