ea0011p62 | Clinical case reports | ECE2006
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...