Whole exome sequencing identifies epithelial and immune dysfunction-related biomarkers in Food Protein-Induced Enterocolitis Syndrome (FPIES)

Background. Food protein-induced enterocolitis syndrome (FPIES) is a food allergy primarily affecting infants, often leading to vomiting and shock. Due to its poorly understood pathophysiology and lack of specific biomarkers, diagnosis is frequently delayed. Understanding disease genetics can shed light on disease susceptibility and pathophysiology key to developing diagnostic, prognostic, preventive and therapeutic strategies.Objective. To explore the potential genome-wide susceptibility factors underlying FPIES.Methods. Blood samples from 41 patients with oral food challenge-proven FPIES were collected for a comprehensive whole exome sequencing association study.The study represents a crucial step in understanding the genetic basis of FPIES. It provides insights into potential factors/pathways contributing to FPIES, which seem to involve epithelial barrier dysfunction and immune dysregulation.