SEARCH

SEARCH BY CITATION

Keywords:

  • APECED;
  • autoimmune;
  • autosomal recessive;
  • chronic mucocutaneous candidosis;
  • hypoparathyroidism;
  • polyendocrinopathy;
  • primary adrenocortical failure

A genetic analysis was made of 58 patients and their 42 families with APECED (autoimmune polyendocrinopathy – candidosis – ectodermal dystrophy). APECED is characterized by hypoparathyroidism, primary adrenocortical failure and chronic mucocutaneous candidosis, but none of its components is constant. Other endocrine deficiencies can occur as well and also dystrophy of dental enamel and nails. The proportion of affected siblings was 0.147 ± 0.034 (S.D.) when corrected for truncate single ascertainment, 0.246 ± 0.019 when corrected for a priori truncate complete ascertainment and 0.240 ± 0.047 when corrected for a posteriori truncate complete ascertainment. The male/female ratio was 1.04. The results are compatible with autosomal recessive transmission. No heterozygous manifestations of the gene were found. The gene is enriched in isolated subpopulations in central and eastern Finland. APECED is part of the “Finnish heritage of disease”.