Eosinophilic esophagitis (EoE) is a chronic allergic disease associated with marked
mucosal eosinophil accumulation. Multiple studies have reported a strong familial
component to EoE, with the presence of EoE increasing the risk for other family members
with EoE. Epidemiologic studies support an important role for environmental risk factors as
modulators of genetic risk. In a small percentage of cases, including patients who have
Mendelian diseases with co-occurrent EoE, rare genetic variation with large effect sizes …