Analysis of a series of Italian APECED patients with autoimmune hepatitis and gastro-enteropathies.

ABSTRACT:

Introduction

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome is a rare monogenic disease determined by biallelic mutations in AIRE gene, which encodes a transcription factor essential for central immune tolerance. Classic diagnosis is determined by the presence of two of the main APECED clinical diseases: chronic mucocutaneous candidiasis, chronic hypoparathyroidism, and Addison's disease. Non-endocrine autoimmunity, involving the liver, intestine, eyes, and kidneys, is generally reported in a minority of European patients, while American APECED patients have a higher tendency of developing organ-specific non-endocrine manifestations early in life. This observation led to the revision of the diagnostic criteria to permit earlier diagnosis bas

SUBMITTER: Paldino G 

PROVIDER: S-EPMC10348686 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature