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Objective Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) is a rare autosomal recessive systemic autoimmune disease caused by mutations in the autoimmune regulator ( AIRE)  gene. Incidence of this genetic disorder is estimated at 1/90,000–200,000 worldwide and 1/6500–9000 in genetically isolated populations such as Iran. Here, we investigated  AIRE  gene mutations in eight independent Iranian non-Jewish families. Methods We sequenced the coding regions of the  AIRE  gene and documented mutations which were further confirmed in respective parents. Results In total, 11 cases from 8 independent families were recruited. Mucosal candidiasis, Addison’s disease and hypoparathyroidism were the most common clinical manifestations in these patients. One novel homozygous splice acceptor mutation (c.308-1G&gt;C), and one novel heterozygous stop-gain mutation (c.1496delC) combined with a known heterozygous c.232T&gt;C missense mutation were found. Moreover, we observed previously described splice donor (c.1095+2T&gt;A), frameshift (c.967-979del), stop-gain (c.415C&gt;T), and missense (c.62C&gt;T) mutations among the patients. All results were co-segregated in parents. Conclusion Here, we reported two novel mutations in the  AIRE  gene leading to APECED. Our data could provide insight into the phenotypic and genotypic spectrum of APECED in the non-Jewish Iranian population. These findings, in addition to future functional assays, can elucidate disease-causing mechanisms related to the AIRE gene and assist in genetic counseling and diagnosis.

orphanet journal of rare diseases

Molecular and clinical characterization of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) in Iranian non-Jewish patients: report of two novel AIRE gene pathogenic variants