The role of epigenetics in paediatric rheumatic disease

Autoimmune/inflammatory disorders can be stratified along a spectrum based on the primary involvement of innate vs. adaptive mechanisms. Stratifying patients based on molecular mechanisms rather than clinical phenotypes may allow for target-directed and individualized treatment.

Epigenetic events are gene regulatory mechanisms that contribute to inflammation across inflammatory diseases and resemble shared mechanisms that may be used as disease biomarkers and treatment targets. Significant progress has been made dissecting the epigenome in paediatric rheumatic diseases and identifies associations with clinical phenotypes, treatment responses and disease outcomes. Here, we will summarize and discuss epigenetic patterns in autoimmune/inflammatory disorders, underlying molecular alterations and their effects on gene expression and immune phenotypes.

Structured investigation of epigenetic events, their causes and effects on immune phenotypes in autoimmune/inflammatory, will improve our understanding of disease, deliver new diagnostic tools and treatment options.