Article
Clinical Characteristics in the Longitudinal Follow-Up of APECED Syndrome in Southern Croatia-Case Series.
Genes - 22 Mar 2022
Skrabic Veselin, Skrabic Ivna, Skrabic Roko, Roje Blanka, Simunovic Marko
Abstract excerpt
BACKGROUND: Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a rare monogenetic autosomal recessive disorder caused by a mutation in the autoimmune regulator (AIRE) gene characterized by complex phenotypic characteristics discovered over years of follow-up. METHODS: 7 patients were recruited in this case series in a period of the last 37 years from Southern Croatia. All patients were...
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