Project Summary
In order to identify the modifying factors for CTLA4 insufficiency, this project will i) study the methylation of the FOXP3 locus and perform a genome-wide methylation screen on effector T cells and regulatory T cells of CTLA4 mutation carriers; ii) investigate the individual exposure history of CTLA-4-insufficient patients towards pathogens, including TCR sequencing of organ-infiltrating effector T cells, and iii) compare the microbiome of affected and unaffected CTLA4 mutation carriers in order to identify possible species associated with disease penetrance or expressivity.
