Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy: Report of Three Cases From Iran Publisher Pubmed



Seifialan M¹ ; Shamsi R¹ ; Setoodeh A² ; Sayarifard F² ; Aghasi P² ; Kompani F³ ; Ghafourifard S¹ ; Abbasi F² Show Affiliations
Source: Journal of Pediatric Endocrinology and Metabolism Published:2016

Abstract

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also named as autoimmune polyglandular syndrome (APS) type 1, is a rare autosomal recessive disorder caused by mutations in autoimmune regulator (AIRE) gene. It is distinguished by an immune-mediated damage of endocrine tissues, chronic candidiasis, and ectodermal disorder. APECED has been shown to be frequent in some populations including Iranian Jews. Here we report three cases of APECED from two independent Iranian Muslim families. Addison's disease, hypoparathyroidismand mucocutaneous candidiasis were shared clinical manifestations in all patients. Mutational analyses have demonstrated a novel homozygous splice site mutation (c.1095+2T>A) in intron 9 and a previously identified homozygous nonsense mutation (c.415C>T) in exon 3 of patients respectively. Future studies are needed to evaluate the frequency of these variants in Iranian APECED patients which would facilitate genetic counseling as well as prenatal diagnosis. © 2016 Walter de Gruyter GmbH, Berlin/Boston.