Epigenetic Alterations in Inborn Errors of Immunity

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.

Automated summary

The epigenome plays a crucial role in fine-tuning gene transcription by bridging environmental factors and the genome. It involves various intricate changes, such as DNA methylation, chromatin remodeling, histone modifications, and RNA processing, which regulate physiological processes in development, maturation, and maintenance of cellular identity and function. Recent studies on genome-wide DNA methylation data have shed new light on the potential contribution of epigenetics in the pathophysiology of the immune system and host defense. Understanding environment-genome interactions through the study of patients with mutations in genes encoding for epigenetic machinery has provided insights and potential therapeutic options.