Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome.


Mazza C., Buzi F., Ortolani F., Vitali A., Notarangelo L. D. , Weber G., ...More

Clinical immunology (Orlando, Fla.), vol.139, no.1, pp.6-11, 2011 (Journal Indexed in SCI Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 139 Issue: 1
  • Publication Date: 2011
  • Doi Number: 10.1016/j.clim.2010.12.021
  • Title of Journal : Clinical immunology (Orlando, Fla.)
  • Page Numbers: pp.6-11
  • Keywords: Autoimmunity, Candidiasis, Endocrinopathy, REGULATOR AIRE GENE, DISEASE TYPE-I, MUTATIONS, AUTOANTIBODIES, PROTEIN, COMMON, TYPE-1

Abstract

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive organ-specific autoimmune disorder that is characterized by a variable combination of (i) chronic mucocutaneous candidiasis, (ii) polyendocrinopathy and/or hepatitis and (iii) dystrophy of the dental enamel and nails.