Identification of disease modifiers in the pathophysiology of CTLA-4 insufficiency

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.

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