Invloed van pathogene filaggrinevarianten op dupilumab-behandeling bij constitutioneel eczeem

Background Pathogenic variants in the filaggrin (FLG) gene are associated with an increased risk of atopic dermatitis (AD). A relatively new effective systemic treatment for AD is dupilumab, a monoclonal antibody that targets the IL-4 receptor subunit-α and inhibits IL-4/13 signaling in the Th2-pathway. In AD skin, dupilumab treatment showed an increased FLG expression and expression of genes (e.g. FLG) involved in epidermal differentiation, barrier and lipid metabolism. This suggests that also in patients with mono-allelic pathogenic FLG variants dupilumab is able to improve the skin barrier function by increasing FLG expression, while in patients with bi-allelic FLG variants this cannot be achieved due to their inability to encode native profilaggrin. However, data on the relationship between FLG variants and the effectiveness of dupilumab on AD have not been previously described.