Autoimmune disorders Flashcards
1
Q
APECED:
A
Defect in AIRE gene. Induces expression of self-antigens by the thymic medullary epithelial cells, leads to deletion of self-reactive T cells (overall T cell depletion).
2
Q
ALPS
A
Occurs due to mutations in FAS or FASL.
High levels of Abs.
3
Q
IPEX
A
Due to mutation in Foxp3 and loss of Tregs.
Hypergammaglobulinemia, very high IgE.
