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

Cinzia Mazza, Fabio Buzi, Federica Ortolani, Alberto Vitali, Lucia D. Notarangelo, Giovanna Weber, Rosa Bacchetta, Annarosa Soresina, Vassilios Lougaris, Nella A. Greggio, Andrea Taddio, Srdjan Pasic, Monique de Vroede, Malgorzata Pac, Sara Sebnem Kilic, Sanal Ozden, Roberto Rusconi, Silvana Martino, Donatella Capalbo, Mariacarolina SalernoClaudio Pignata, Giorgio Radetti, Giuseppe Maggiore, Alessandro Plebani, Luigi D. Notarangelo, Raffaele Badolato

Research output: Contribution to journalArticlepeer-review


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.We analyzed the AIRE (autoimmune regulator) gene in subjects who presented any symptom that has been associated with APECED, including candidiasis and autoimmune endocrinopathy.We observed that 83.3% of patients presented at least two of the three typical manifestations of APECED, while the remaining 16.7% of patients showed other signs of the disease.Analysis of the genetic diagnosis of these subjects revealed that a considerable delay occurs in the majority of patients between the appearance of symptoms and the diagnosis. Overall, the mean diagnostic delay in our patients was 10.2. years. These results suggest that molecular analysis of AIRE should be performed in patients with relapsing mucocutaneous candidiasis for early identification of APECED.

Original languageEnglish
Pages (from-to)6-11
Number of pages6
JournalClinical Immunology
Issue number1
Publication statusPublished - Apr 2011


  • Autoimmunity
  • Candidiasis
  • Endocrinopathy

ASJC Scopus subject areas

  • Immunology
  • Immunology and Allergy


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