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.