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FLASH GENE
Symbol AIRE contributors: mct - updated : 11-07-2017
HGNC name autoimmune regulator
HGNC id 360
ASSOCIATED DISORDERS
corresponding disease(s) PGA1
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --low  
decreased AIRE expression and global thymic hypofunction in Down syndrome (Trisomy 21)
constitutional germinal mutation      
could specifically affect human insulin gene expression in thymic epithelial cells through INS-VNTR and subsequently induce either insulin tolerance or autoimmunity
constitutional     --low  
significantly reduced by 2-fold in Down syndrome thymuses compared with controls
Susceptibility
  • to vitiligo
  • to rheumatoid arthritis
  • to melanoma
  • Variant & Polymorphism SNP
  • Ser278Arg polymorphism not associated with increased risk for alopecia areata, in German population
  • strong association between AIRE 7215C and vitiligo
  • SNPs rs1055311, rs1800520 and rs1800522 were significantly more frequent in healthy subjects than in melanoma patients
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS