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.

APECED是一种罕见的单基因隐性疾病，由AIRE基因突变引起。在这份手稿中，我们报告了一位患有APECED综合征的土耳其男性患者，他表现出慢性粘膜皮肤念珠菌病以及多年来发展起来的其他自身免疫表现。AIRE的纯合R257X突变的存在该基因证实了APECED综合征的诊断。我们进一步对23名已发表的土耳其APECED患者进行了文献综述，并指出芬兰大突变R257X在土耳其人中很常见。特别是，我们回顾性地评估了Ferre / Lionakis标准相对于经典标准在芬兰人，撒丁岛人和土耳其人中得到早期诊断的频率。由于我们从文献中进行了回顾，因此有可能在土耳其的18.8％，撒丁岛的23.8％和芬兰的38.55％的患者中得到更早的诊断，因此Ferre / Lionakis的标准的确可以在将来更早开始免疫调节治疗，如果将来发现有效的话。学习。