Netherton syndrome: defective kallikrein inhibition in the skin leads to skin inflammation and allergy

L Furio, A Hovnanian - Biological chemistry, 2014 - degruyter.com
L Furio, A Hovnanian
Biological chemistry, 2014degruyter.com
Netherton syndrome (NS) is an orphan genetic skin disease with a profound skin barrier
defect and severe allergic manifestations. NS is caused by loss of function mutations in
SPINK5 encoding lympho-epithelial Kazal-type inhibitor (LEKTI), a secreted multi-domain
serine protease inhibitor expressed in stratified epithelia. Studies in mouse models and in
NS patients have established that unopposed kallikrein 5 activity triggers stratum corneum
detachment and activates PAR-2 signaling, leading to the autonomous production of pro …
Abstract
Netherton syndrome (NS) is an orphan genetic skin disease with a profound skin barrier defect and severe allergic manifestations. NS is caused by loss of function mutations in SPINK5 encoding lympho-epithelial Kazal-type inhibitor (LEKTI), a secreted multi-domain serine protease inhibitor expressed in stratified epithelia. Studies in mouse models and in NS patients have established that unopposed kallikrein 5 activity triggers stratum corneum detachment and activates PAR-2 signaling, leading to the autonomous production of pro-allergic and pro-inflammatory mediators. This emerging knowledge on NS pathogenesis has highlighted a central role for protease regulation in skin homeostasis but also in the complexity of the disease, and holds the promise of new specific treatments.
De Gruyter