Moreover, a Mendelian association was found between EoE and SAM syndrome, caused by homozygous mutations in DSG1 (Ryu et al., 2020), and Netherton syndrome, caused by autosomal dominant loss-of-function mutations in the protease inhibitor SPINK5 leading to unrestricted protease activity of KLK5 and KLK7 (Paluel-Marmont et al., 2017). This evidence concerns the gene DSG1 and eosinophilic esophagitis.