What can clinical immunology learn from inborn errors of epigenetic regulators?
Por:
Camacho-Ordonez, N, Ballestar, E, Timmers, HTM and Grimbacher, B
Publicada:
1 may 2021
Ahead of Print:
1 may 2021
Resumen:
The epigenome is at the interface between environmental factors and the genome, regulating gene transcription, DNA repair, and replication. Epigenetic modifications play a crucial role in establishing and maintaining cell identity and are especially crucial for neurology, musculoskeletal integrity, and the function of the immune system. Mutations in genes encoding for the components of the epigenetic machinery lead to the development of distinct disorders, especially involving the central nervous system and host defense. In this review, we focus on the role of epigenetic modifications for the function of the immune system. By studying the immune phenotype of patients with monogenic mutations in components of the epigenetic machinery (inborn errors of epigenetic regulators), we demonstrate the importance of DNA methylation, histone modifications, chromatin remodeling, noncoding RNAs, and mRNA processing for immunity. Moreover, we give a short overview on therapeutic strategies targeting the epigenome.
Filiaciones:
Camacho-Ordonez, N:
Albert Ludwigs Univ Freiburg, Fac Med, Med Ctr, Ctr Chron Immunodeficiency,Inst Immunodeficiency, Freiburg, Germany
Albert Ludwigs Univ Freiburg, Fac Biol, Freiburg, Germany
:
Josep Carreras Res Inst IJC, Epigenet & Immune Dis Grp, Barcelona, Spain
Timmers, HTM:
German Canc Res Ctr, Partner Site Freiburg, German Canc Consortium DKTK, Heidelberg, Spain
Albert Ludwigs Univ Freiburg, Fac Med, Med Ctr, Dept Urol, Freiburg, Spain
Grimbacher, B:
Albert Ludwigs Univ Freiburg, Fac Med, Med Ctr, Ctr Chron Immunodeficiency,Inst Immunodeficiency, Freiburg, Germany
Satellite Ctr Freiburg, DZIF German Ctr Infect Res, Freiburg, Spain
Albert Ludwigs Univ, CIBSS Ctr Integrat Biol Signalling Studies, Freiburg, Spain
Satellite Ctr Freiburg, RESIST Cluster Excellence 2155, Hanover Med Sch, Freiburg, Spain
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