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

Italian journal of pediatrics - 2 Jun 2021

Fierabracci Alessandra, Lanzillotta Mariafrancesca, Vorgučin Ivana, Palma Alessia, Katanić Dragan, Betterle Corrado

Abstract excerpt

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 diagnosis requires the presence of at least two of three main components: chronic mucocutaneous candidiasis, hypoparathyroidism...

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Identifiers

PMID: 34078422
DOI: 10.1186/s13052-021-01075-8
PMCID: PMC8173724

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