Term
| role of AIRE in autoimmunity gene |
|
Definition
disease assoc: autoimmune polyendocrine syndrome
mechanism: defective expression of tissue antigens and elimnation of self-reactive T cells in the thymus |
|
|
Term
| role of complement proteins C2 and C4 in autoimmunity |
|
Definition
disease: LUPUS like disease
Mechanism: defective clearnace of immune complexes; or defects in B cell tolerance |
|
|
Term
| role of Fas, FasL in autoimmunity? |
|
Definition
disease: Lpr, gld mouse strains; human ALPS
defective elimination of self reactive lymphocytes |
|
|
Term
|
Definition
disease: lupus like disease
mech: defective feedback inhibition of B cell activation |
|
|
Term
|
Definition
disesae: X-linked polyendocrinopathy and enteropathy (IPEX)
mechanism: deficiency of regulatory T cells |
|
|
Term
|
Definition
disease: several autoimmune diseases with increased risk of polymorphisms
mechanism: deficiency of regulatory T cells |
|
|
Term
| role of NOD-2 in autoimmune disease |
|
Definition
disease: Crohns
Mech: defective resistance or abnormal responses to intestinal microbes |
|
|
Term
| role of PTPN22 in autoimmune disease |
|
Definition
disease: several
mechanism: abnormal tyrosine phosphatase regulation of lymphocyte activation |
|
|
