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. 2000 Jun;25(2):141-2.
doi: 10.1038/75977.

Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome

S Chavanas  1 , C Bodemer, A Rochat, D Hamel-Teillac, M Ali, A D Irvine, J L Bonafé, J Wilkinson, A Taïeb, Y Barrandon, J I Harper, Y de Prost, A Hovnanian
Affiliations

Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome

S Chavanas et al. Nat Genet. 2000 Jun.

Abstract

We describe here eleven different mutations in SPINK5, encoding the serine protease inhibitor LEKTI, in 13 families with Netherton syndrome (NS, MIM256500). Most of these mutations predict premature termination codons. These results disclose a critical role of SPINK5 in epidermal barrier function and immunity, and suggest a new pathway for high serum IgE levels and atopic manifestations.

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