Searchable abstracts of presentations at key conferences in endocrinology

ea0011p62 | Clinical case reports | ECE2006

APECED (Autoimmune PolyEndocrinopathy-Candidiasis-Ectodermal Dystrophy) syndrome with atypical or incomplete presentation: report of 4 cases with AIRE mutations in heterozygosity

Mazza C , Sparapani I , Costa L , Zanola S , Filisetti M , Pilotta A , Lombardi F , Spagnuolo MI , Valerio G , Franzese A , Radetti G , Buzi F

APECED is an autosomal – recessive syndrome defined by two of the following conditions: chronic mucocutaneous candidiasis (CMC), hypoparathyroidism (HP) or Addison disease (AD). Other autoimmune endocrine or non-endocrine conditions may be associated, like thyroiditis, celiac disease, alopecia and nail dystrophy. APECED is caused by mutations in the AIRE gene, mapping to 21q22.3. We report here 4 cases with atypical or incomplete presentation, that have been geneti...