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- Gianchecchi, Elena, et al. Show all 8 Authors
- Genomics 2013 v.102 pp. 163-168
- autoimmunity; environmental factors; heterozygosity; mutation; pathogenesis; patients; regulator genes
- ... 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 ...