A novel mutation associated with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

Ann Allergy Asthma Immunol. 2008 Feb;100(2):169. doi: 10.1016/S1081-1206(10)60427-9.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • AIRE Protein
  • Amino Acid Substitution / genetics*
  • Child, Preschool
  • Codon, Nonsense
  • Genetic Carrier Screening
  • Humans
  • Male
  • Perforin
  • Polyendocrinopathies, Autoimmune / diagnosis
  • Polyendocrinopathies, Autoimmune / genetics*
  • Pore Forming Cytotoxic Proteins / genetics
  • Transcription Factors / genetics

Substances

  • Codon, Nonsense
  • PRF1 protein, human
  • Pore Forming Cytotoxic Proteins
  • Transcription Factors
  • Perforin