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1. Analysis of the autoimmune regulator gene in patients with autoimmune non-APECED polyendocrinopathies

Author:
Gianchecchi, Elena,   et al.   ; Palma, Alessia; Palombi, Melania; Luciano, Rosa; Di Carlo, Pierluigi; Crinò, Antonino; Cappa, Marco; Fierabracci, Alessandra;     Show all 8 Authors
Source:
Genomics 2013 v.102 pp. 163-168
ISSN:
0888-7543
Subject:
autoimmunity; environmental factors; heterozygosity; mutation; pathogenesis; patients; regulator genes
Abstract:
... The pathogenesis of autoimmunity was derived from a complex interaction of genetic and environmental factors. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy is a rare autosomal recessive disease caused by mutations in the autoimmune regulator (AIRE) gene. AIRE gene variants and, in particular, heterozygous loss-of-function mutations were also discovered in organ-specific autoimmune ...
DOI:
10.1016/j.ygeno.2013.04.016
PubMed:
23643663