Interplay between epigenetic and genetic alterations in inborn errors of immunity.
Trends Immunol
; 44(11): 902-916, 2023 11.
Article
en En
| MEDLINE
| ID: mdl-37813732
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.
Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Autoinmunidad
/
Hipersensibilidad
Tipo de estudio:
Prognostic_studies
Límite:
Humans
Idioma:
En
Revista:
Trends Immunol
Asunto de la revista:
ALERGIA E IMUNOLOGIA
Año:
2023
Tipo del documento:
Article
País de afiliación:
España