Novel mutation in AIRE gene with autoimmune polyendocrine syndrome type 1

Fatemeh Fardi Golyan, Nosrat Ghaemi, Mohammad Reza Abbaszadegan, Seyed Hossein Dehghan Manshadi, Rahim Vakili, Todd E. Druley, Hamid Reza Rahimi, Martha Ghahraman

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


Purpose: Autoimmune polyendocrine type 1 (APS-1) is a complex inherited autosomal recessive disorder. Classically, it appears within the first decade of life followed by adrenocortical insufficiency, mucocutaneous candidiasis, Addison's disease, and hypoparathyroidism. The clinical phenotype of APS-1 varies depending upon mutations in the autoimmune regulator gene (AIRE) on chromosome 21q22.3. Methods: In this study, we performed Sanger sequencing ofAIRE in Iranian patients to identify different variants and probable new mutations corresponding to a clinical diagnosis of APS-1. Results: After analyzing 14AIRE exons, we detected a novel insertion mutation in exon 2 in a patient who presented with severe APS-1, Lys50AsnfsX168. Furthermore, the known mutations in AIRE, including Arg139X, Arg257X, and Leu323SerfsX51, were detected in enrolled patients. Discussion: According to our results, sequencing analysis ofAIRE provides a useful screening method to diagnose patients with incomplete or unusual clinical presentations of APS-1.

Original languageEnglish
Pages (from-to)728-733
Number of pages6
Issue number6
StatePublished - Nov 2019


  • AIRE gene
  • APS-1
  • Gene mutation


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