DENTAL ENAMEL HYPOPLASIA AS A PRESENTING SIGN OF AUTOIMMUNE POLYENDOCRINOPATHY WITH CANDIDIASIS-ECTODERMAL DYSTROPHY - A CASE REPORT

• Main Authors: Lea Regoršek Vrabec (Author), Tina Leban (Author), Katarina Trebušak Podkrajšek (Author), Nataša Bratina (Author), Sara Bertok (Author), Alenka Pavlič (Author), Magdalena Avbelj Stefanija (Author)
• Format: Book
• Published: The Society for Children with Metabolic Disorders, 2020-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED) is a rare monogenic disor- der caused by pathological genetic alterations in the AIRE gene, which encodes a protein autoimmune regulator, which is implicated in the regulation of immune tolerance to autoantigens. Indivi...