More recently, Genome Wide Association Studies (GWAS) have also implicated AIRE in several common organ-specific autoimmune diseases including autoimmune primary adrenal insufficiency, type 1 diabetes and pernicious anemia.<h4>Methods</h4>We developed a highly sensitive cell-system approach based on HEK293FT cells transfected with AIRE that allowed us to characterise and functionally evaluate the transcriptional potential of genetic variants in the AIRE gene. Here, AIRE is linked to pernicious anemia.