APECED in Turkey: A case report and insights on genetic and phenotypic variability.


Fierabracci A., Pellegrino M., Frasca F., Kilic S. Ş. , Betterle C.

Clinical immunology (Orlando, Fla.), vol.194, pp.60-66, 2018 (Journal Indexed in SCI Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 194
  • Publication Date: 2018
  • Doi Number: 10.1016/j.clim.2018.06.012
  • Title of Journal : Clinical immunology (Orlando, Fla.)
  • Page Numbers: pp.60-66
  • Keywords: APECED-AIRE gene-genotype-phenotype variability-Turkish population, CANDIDIASIS-ECTODERMAL DYSTROPHY, POLYENDOCRINE SYNDROME TYPE-1, SYNDROME TYPE-I, AUTOIMMUNE REGULATOR AIRE, POLYGLANDULAR SYNDROME TYPE-1, PRIMARY IMMUNODEFICIENCY, CLINICAL-MANIFESTATIONS, EUROPEAN PATIENTS, ADDISONS-DISEASE, FOLLOW-UP

Abstract

APECED is a rare monogenic recessive disorder caused by mutations in the AIRE gene. In this manuscript, we report a male Turkish patient with APECED syndrome who presented with chronic mucocutaneous candidiasis associated with other autoimmune manifestations developed over the years. The presence of the homozygous R257X mutation of the AIRE gene confirmed the diagnosis of APECED syndrome. We further performed literature review in 23 published Turkish APECED patients and noted that Finnish major mutation R257X is common in Turks. In particular, we assessed retrospectively how often the Ferre/Lionakis criteria would have resulted in earlier diagnosis in Finns, Sardinians and Turks in respect to the classic criteria. Since an earlier diagnosis could have been possible in 18.8% of Turkish, in 23.8% of Sardinian and 38.55% of Finnish patients we reviewed from literature, Ferre/Lionakis criteria could indeed allow in future earlier initiation of immunomodulatory treatments, if found effective in future studies.