Clinical Characteristics in the Longitudinal Follow-Up of APECED Syndrome in Southern Croatia-Case Series.

ABSTRACT:

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 screened for AIRE R257X mutations.

Results

This study group had a mean current age of 25.3 years (age range from 5.4 to 40.2 years), while the mean age at the onset of the disease was 6.5 years (age range from 0.7 to 9.2 years) and with a mean follow-up period of 17.8 years. The overall prevalence of APECED syndrome is estimated to be 1 in 75,000. The

SUBMITTER: Skrabic V 

PROVIDER: S-EPMC9027969 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature