Immunology (+ a little pathology) Flashcards
HLA A3
Hemochromatosis
HLA B27
Psoriatic arthritis, Ankylosing spondylitis, arthritis of IBD, Reactive arthritis (Reiter syndrome)
PAIR
HLA DQ2/DQ8
Celiac
HLA DR2
MS, hay fever, SLE, Goodpasture
HLA DR3
T1DM, SLE, Graves dz
HLA DR4
RA, T1DM
There are 4 walls in a “rheum” (RA)
HLA DR5
Pernicious anemia, Hashimoto thyroiditis
BCR-ABL
CML (, ALL) = tyrosine kinase (oncogene)
bcl-2
Follicular and undifferentiated lymphomas = anti-apoptotic molecule (oncogene)
BRAF
Melanoma = serine/threonine kinase (oncogene)
c-kit
GI stromal tumor = cytokine receptor for stem cell (oncogene)
c-myc
Burkitt lymphoma = transcription factor (oncogene)
HER2/neu (c-erbB2)
breast, ovarian, gastric ca = TK (oncogene)
L-myc
Lung tumor = transcription factor (oncogene)
N-myc
neuroblastoma = transcription factor (oncogene)
ras
colon ca, lung ca, pancreatic ca = GTPase (oncogene)
ret
MEN 2 = TK (oncogene)
APC
colorectal cancer (tumor suppressor)
BRCA (1&2)
breast and ovarian cancer = DNA repair protein (tumor suppressor)
CPD4/SMAD4
pancreatic cancer = DPC (tumor suppressor)
DCC
colon cancer = DCC (tumor suppressor)
MEN1
MEN1 (tumor suppressor)
NF1
neurofibromatosis type 1 = RAS GTPase activating protein [neurofibromin] (tumor suppressor)
NF2
neurofibromatosis type 2 = Merlin (schwanomin) protein (tumor suppressor)
p16
melanoma = cyclin-dependent kinase inhibitor 2A (tumor suppressor)
p53
most human cancers; Li-Fraumeni syndrome = transcription factor for p21, blocks G1 –> S phase (tumor suppressor)
PTEN
breast ca, prostate ca, endometrial ca (tumor suppressor)
Rb
Retinoblastoma, osteosarcoma = inhibits E2F; blocks G1 –> S phase (tumor suppressor)
TSC1
tuberous sclerosis = hamartin protein (tumor suppressor)
TSC2
tuberous sclerosis = tuberin protein (tumor suppressor)
VHL
von Hippel-Lindau dz = inhibits hypoxia inducible factor 1a (tumor suppressor)
WT1/WT2
Wilms Tumor - nephroblastoma (tumor suppressor)
Alkaline phosphatase
mets to bone, liver, Paget dz of bone, seminoma (placental ALP)
alpha-fetoprotein
normally made by fetus; HCC, hepatoblastoma, yolk sac (endodermal sinus) tumor, testicular cancer, mixed germ cell tumor (co-secreted with beta-hCG)