Immunology

Netherton syndrome subtypes share IL-17/IL-36 signature with distinct IFN-α and allergic responses



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Netherton syndrome (NS) (OMIM 256500) is a rare and severe recessive genetic skin disease characterized by the diagnostic triad of ichthyosiform erythroderma, a specific hair shaft abnormality known as trichorrhexis invaginata, and high serum IgE levels with atopic manifestations. NS is an orphan disease that currently has no satisfactory treatment. NS is caused by recessive loss-of-function mutations in SPINK5,

  • Chavanas S.
  • Bodemer C.
  • Rochat A.
  • Hamel-Teillac D.
  • Ali M.
  • Irvine A.D.
  • et al.
Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome.