A novel NCSTN missense mutation in the signal peptide domain causes hidradenitis suppurativa, which has features characteristic of an autoinflammatory keratinization disease

Abstract excerpt

Dear Editor, NCSTN encodes nicastrin, one of the three subunits of γ‐secretase, a transmembrane endoprotease complex that catalyses the cleavage of many transmembrane proteins including Notch receptors.1 In 2010, mutations in genes encoding γ‐secretase subunits (NCSTN, PSENEN and PSEN1) were reported in patients with hidradenitis suppurativa (HS).2 Elevated tumour necrosis factor‐α and interleukin (IL)‐10 levels...

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