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

Alessandra Fierabracci, Marsha Pellegrino, Federica Frasca, Sara Sebnem Kilic, Corrado Betterle

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)60-66
Number of pages7
JournalClinical Immunology
Publication statusPublished - Sep 2018


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