Comel-Netherton syndrome: A local skin barrier defect in the absence of an underlying systemic immunodeficiency.
Kira StuvelJorn J HeeringaVirgil A S H DalmRuud W J MeijersEls van HoffenSusan A M GerritsenMenno C van ZelmSuzanne G M A PasmansPublished in: Allergy (2020)
Multidisciplinary evaluation of our national cohort showed no evidence for a severe, clinically relevant systemic immunodeficiency. Therefore, we conclude that in Dutch NS patients the increased risk of infections most likely results from the skin barrier disruption and that increased allergen penetration predisposes to allergic sensitization.