AIRE gene polymorphisms in systemic sclerosis associated with autoimmune thyroiditis

F. Ferrera, M. Rizzi, B. Sprecacenere, P. Balestra, M. Sessarego, A. Di Carlo, G. Filaci, A. Gabrielli, R. Ravazzolo, F. Indiveri

Research output: Contribution to journalArticlepeer-review


Mutations in the autoimmune regulator (AIRE) gene are responsible for autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). Systemic sclerosis (SSc) is a non-organ-specific autoimmune disease mainly characterized by cutaneous involvement, that is frequently associated with other autoimmune manifestations common to APECED. Nineteen SSc patients, 22 patients affected by SSc associated with autoimmune thyroiditis, and 100 healthy controls were analyzed. We identified 11 AIRE gene variants, one of which has never previously been described. Intronic polymorphism G11107A was significantly correlated to SSc/thyroiditis. Data show that variants of the AIRE gene might be correlated to different clinical manifestations in SSc patients.

Original languageEnglish
Pages (from-to)13-17
Number of pages5
JournalClinical Immunology
Issue number1
Publication statusPublished - Jan 2007


  • AIRE
  • Autoimmunity
  • Genetic susceptibility
  • Polymorphisms
  • Systemic sclerosis

ASJC Scopus subject areas

  • Immunology
  • Immunology and Allergy


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