[HTML][HTML] Netherton syndrome subtypes share IL-17/IL-36 signature with distinct IFN-α and allergic responses
C Barbieux, MB Des Claustres, M Fahrner… - Journal of Allergy and …, 2022 - Elsevier
Background Netherton syndrome (NS) is a rare recessive skin disorder caused by loss-of-
function mutations in SPINK5 encoding the protease inhibitor LEKTI (lymphoepithelial Kazal-
type–related inhibitor). NS patients experience severe skin barrier defects, display
inflammatory skin lesions, and have superficial scaling with atopic manifestations. They
present with typical ichthyosis linearis circumflexa (NS-ILC) or scaly erythroderma (NS-SE).
Objective We used a combination of several molecular profiling methods to …
function mutations in SPINK5 encoding the protease inhibitor LEKTI (lymphoepithelial Kazal-
type–related inhibitor). NS patients experience severe skin barrier defects, display
inflammatory skin lesions, and have superficial scaling with atopic manifestations. They
present with typical ichthyosis linearis circumflexa (NS-ILC) or scaly erythroderma (NS-SE).
Objective We used a combination of several molecular profiling methods to …