Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED

Daniela Cihakova, Katarina Trebusak, Maarit Heino, Valentin Fadeyev, Anatoly Tiulpakov, Tadej Battelino, Attila Tar, Zita Halsz, Peter Blmel, Sameh Tawfik, Kai Krohn, Jan Lebl, Prt Peterson

Research output: Contribution to journalArticlepeer-review

68 Scopus citations


Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare recessive disorder that results in several autoimmune diseases due to the mutations in the AIRE (autoimmune regulator) gene. APECED patients develop several autoimmune endocrine disorders and are characterized by the high titer autoantibodies to organ-specific antigens such as the steroidogenic P450 cytochromes. So far, 38 mutations have been identified in the AIRE gene. We report here the genetic and autoantibody analysis of 27 APECED patients of Eastern and Central European origins and one Egyptian patient. From 54 analyzed APECED chromosomes, eight mutations were detected, four of which (T16M, W78R, IVS1_IVS4, 30-53dup23bp) are novel. The most prevalent reason for APECED in these populations was the occurrence of R257X (36 chromosomes) that has been described earlier as a common and recurrent mutation in several other populations. The analysis of humoral immunity to steroidogenic P450 cytochromes by the immunoblotting of E. coli expressed antigens in the 18 APECED patients showed that 67%, 44%, and 61% of the Eastern and Central European APECED patients had autoantibodies to P450c17, P450c21, and P450scc, respectively.

Original languageEnglish (US)
Pages (from-to)225-232
Number of pages8
JournalHuman mutation
Issue number3
StatePublished - 2001
Externally publishedYes


  • AIRE
  • APS1
  • APSI
  • Autoimmunity
  • Central Europe
  • Cytochrome P450
  • Eastern Europe
  • Mutation analysis
  • Polyendocrinopathy

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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