Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome
S Chavanas, C Bodemer, A Rochat, D Hamel-Teillac… - Nature …, 2000 - nature.com
Nature genetics, 2000•nature.com
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.
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.
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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