APECED is a rare monogenic recessive disorder caused by mutations in the AIRE gene. In this manuscript, we reporta male Turkish patient with APECED syndrome who presented with chronic mucocutaneous candidiasis associatedwith other autoimmune manifestations developed over the years. The presence of the homozygous R257X mutation ofthe AIRE gene confirmed the diagnosis of APECED syndrome. We further performed literature review in 23 publishedTurkish APECED patients and noted that Finnish major mutation R257X is common in Turks. In particular, weassessed 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% ofTurkish, in 23.8% of Sardinian and 38.55% of Finnish patients we reviewed from literature, Ferre/Lionakis criteria couldindeed allow in future earlier initiation of immunomodulatory treatments, if found effective in future studies.
APECED in Turkey: a case report and insights on genetic and phenotypic variability
Fierabracci A
;
2018-01-01
Abstract
APECED is a rare monogenic recessive disorder caused by mutations in the AIRE gene. In this manuscript, we reporta male Turkish patient with APECED syndrome who presented with chronic mucocutaneous candidiasis associatedwith other autoimmune manifestations developed over the years. The presence of the homozygous R257X mutation ofthe AIRE gene confirmed the diagnosis of APECED syndrome. We further performed literature review in 23 publishedTurkish APECED patients and noted that Finnish major mutation R257X is common in Turks. In particular, weassessed 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% ofTurkish, in 23.8% of Sardinian and 38.55% of Finnish patients we reviewed from literature, Ferre/Lionakis criteria couldindeed allow in future earlier initiation of immunomodulatory treatments, if found effective in future studies.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
