Coexisting mutations in CARD14 and NUDT15 detected in a young female with azathioprine hypersensitivity syndrome manifested as acute generalized exanthematous pustulosis

J Dermatol. 2020 Apr;47(4):e109-e110. doi: 10.1111/1346-8138.15240. Epub 2020 Jan 28.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Acute Generalized Exanthematous Pustulosis / diagnosis
  • Acute Generalized Exanthematous Pustulosis / genetics*
  • Acute Generalized Exanthematous Pustulosis / immunology
  • Acute Generalized Exanthematous Pustulosis / pathology
  • Adult
  • Azathioprine / adverse effects*
  • Azathioprine / pharmacokinetics
  • CARD Signaling Adaptor Proteins / genetics*
  • CARD Signaling Adaptor Proteins / immunology
  • DNA Mutational Analysis
  • Drug Hypersensitivity Syndrome / diagnosis
  • Drug Hypersensitivity Syndrome / genetics*
  • Drug Hypersensitivity Syndrome / immunology
  • Drug Hypersensitivity Syndrome / pathology
  • Female
  • Guanylate Cyclase / genetics*
  • Guanylate Cyclase / immunology
  • Humans
  • Membrane Proteins / genetics*
  • Membrane Proteins / immunology
  • Mutation
  • Pyrophosphatases / genetics*
  • Pyrophosphatases / metabolism
  • Skin / immunology
  • Skin / pathology

Substances

  • CARD Signaling Adaptor Proteins
  • Membrane Proteins
  • NUDT15 protein, human
  • Pyrophosphatases
  • CARD14 protein, human
  • Guanylate Cyclase
  • Azathioprine