Eosinophilic esophagitis and colonic mucosal eosinophilia in Netherton syndrome

C Paluel-Marmont, N Bellon, P Barbet… - Journal of Allergy and …, 2017 - jacionline.org
Netherton syndrome (NS, MIM# 256500) is a severe autosomal-recessive disorder
characterized by chronic skin inflammation and a high prevalence of atopic manifestations
and allergies. NS is caused by loss-of-function mutations in SPINK5 encoding an antiserine
protease (LEKTI) expressed in stratified epithelia.