Article
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.
Orphanet journal of rare diseases - 6 Jan 2022
Setoodeh Aria, Panjeh-Shahi Samareh, Bahmani Fariba, Vand-Rajabpour Fatemeh, Jalilian Nazanin, Sayarifard Fatemeh, Abbasi Farzaneh, Sayarifard Azadeh, Rostami Parastoo, Parvaneh Nima, Akhavan-Niaki Haleh, Ahmadifard Mohamadreza, Tabrizi Mina
Abstract excerpt
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...
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