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


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

CLINICAL IMMUNOLOGY, vol.139, no.1, pp.6-11, 2011 (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
  • Journal Name: CLINICAL IMMUNOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.6-11
  • Hacettepe University Affiliated: Yes

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.