Dupilumab improves clinical symptoms in children with Netherton syndrome by suppressing Th2-mediated inflammation.

ABSTRACT:

Background

Netherton syndrome is a rare, life-threatening autosomal recessive genetic disorder with no effective treatment yet. Skin barrier dysfunction caused by SPINK5 gene mutations is a hallmark of the disease. Antigen penetration through the defective skin and nonspecific inflammation provide a pro-T helper 2 (Th2) immune microenvironment in the disease. Therefore, Th2 cytokines are considered to be candidate therapeutic targets.

Objective

To evaluate the clinical responses of patients with Netherton syndrome to dupilumab, an IL-4Rα antagonist, and identify changes in the Th1/2/17 pathway activity, skin barrier defect protein LEKTI expression after treatment.

Methods

Four children with severe Netherton syndrome (aged 2 y to 4 y and 6 m) who were treated wi

SUBMITTER: Yan S 

PROVIDER: S-EPMC9773867 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature