Gain-of-function variants in the KDF1 gene cause hidradenitis suppurativa associated with ectodermal dysplasia by stabilizing IκB kinase α

Br J Dermatol. 2023 Jul 7;189(1):131-132. doi: 10.1093/bjd/ljad075.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Ectodermal Dysplasia* / genetics
  • Gain of Function Mutation
  • Hidradenitis Suppurativa* / complications
  • Hidradenitis Suppurativa* / genetics
  • Humans
  • I-kappa B Kinase / genetics
  • Male

Substances

  • I-kappa B Kinase