Report of two siblings with APECED in Serbia: is there a founder effect of c.769C>T AIRE genotype?

• Egile Nagusiak: Alessandra Fierabracci (Egilea), Mariafrancesca Lanzillotta (Egilea), Ivana Vorgučin (Egilea), Alessia Palma (Egilea), Dragan Katanić (Egilea), Corrado Betterle (Egilea)
• Formatua: Liburua
• Argitaratua: BMC, 2021-06-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

Abstract Background Autoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) or autoimmune polyglandular syndrome Type 1 is a rare autosomal recessive syndrome. The disorder is caused by mutations in the AIRE (AutoImmune Regulator) gene. According to the classic criteria, clinical dia...