Analysis of the autoimmune regulator gene in patients with autoimmune non-APECED polyendocrinopathies

Alessia Palma, Elena Gianchecchi, Melania Palombi, Rosa Luciano, Pierluigi Di Carlo, Antonino Crinò, Marco Cappa, Alessandra Fierabracci

Research output: Contribution to journalArticlepeer-review


The pathogenesis of autoimmunity was derived from a complex interaction of genetic and environmental factors. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy is a rare autosomal recessive disease caused by mutations in the autoimmune regulator (AIRE) gene. AIRE gene variants and, in particular, heterozygous loss-of-function mutations were also discovered in organ-specific autoimmune disorders, possibly contributing to their etiopathogenesis. It was suggested that even predisposition to develop certain autoimmune conditions may be derived from AIRE gene polymorphisms including S278R and intronic IVS9+6 G>A. In this study we unravel the hypothesis on whether AIRE gene variants may predispose individuals to associated autoimmune conditions in 41 Italian patients affected by non-APECED autoimmune polyendocrinopathies. We could not detect any heterozygous mutations of the AIRE gene. Although a trend of association was observed, heterozygous polymorphisms S278R and IVS9+6 G>A were detected in patients without statistically significant prevalence than in controls. Their putative contribution to autoimmune polyendocrinopathies and their predictive value in clinical strategies of disease development could be unravelled by analysing a larger sample of diseased patients and healthy individuals.

Original languageEnglish
Pages (from-to)163-168
Number of pages6
Issue number3
Publication statusPublished - Sep 2013


  • AIRE
  • Mutation
  • Polyendocrinopathy
  • Polymorphism

ASJC Scopus subject areas

  • Genetics


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