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4 Cards in this Set
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- Back
- 3rd side (hint)
ALPS |
- Non-SCID - FAS/FASL deficiency (PKC delta, caspase 10, gof-NRAS/KRAS, CTLA4, FADD [adapter protein]) |
- Inability to apoptose effctor CD8 tcells after activation (and to a lesser extent activated B cells) - Flow: Increased CD3+4-/8- TCRab+ (^B/Ig's) - Uncontrolled lymphocyte proliferation - Splenomegaly/Lympadenopathy (*enlarged follicles and increase blast cells). -Autoimmunity towards cells. - Increased IL-10,-IL-18, FASL, B12 - TUNEL Assay: Incubate lymphocytes then ADD FAS analogue, shoulder be the majority apoptosing (not single digits). - Treat with long steroid taper - Malignancy surveillance |
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