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7 Cards in this Set

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  • Back
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AIRE gene
Mechanism: failure of central tolerance
Autoimmune polyendocrine syndrome (APS)

destruction of endocrine organs by Abs
C4
defective clearance of immune complexes
Systemic lupus erythematosus (SLE)
CTLA-4
Failure of anergy in CD4+ T cells
T1D
Thryoid diseease
Primary billary cirrhosis

Fas/FasL
defective deletion of anergic self-reactive B cells
Reduced deletion of mature CD4+ cells
Autoimmune lympho-proliferative syndrome (ALPS)
FoxP3
Deficiency of T regs
immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX)
IL-2/IL-2Ralpha/beta
defective development, survival or function of T regs
None known
SHP-1
failure of negative regulation of B cells
none known