Netherton syndrome: skin inflammation and allergy by loss of protease inhibition

  title={Netherton syndrome: skin inflammation and allergy by loss of protease inhibition},
  author={A. Hovnanian},
  journal={Cell and Tissue Research},
  • A. Hovnanian
  • Published 2013
  • Biology, Medicine
  • Cell and Tissue Research
  • Netherton syndrome (NS) is a rare autosomal recessive skin disease with severe skin inflammation and scaling, a specific hair shaft defect and constant allergic manifestations. NS is caused by loss-of-function mutations in SPINK5 (serine protease inhibitor of kazal type 5) encoding LEKTI-1 (lympho-epithelial kazal type related inhibitor type 5) expressed in stratified epithelia. In vitro and in vivo studies in murine models and in NS patients have cast light on the pathogenesis of the disease… CONTINUE READING
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