micro drill sheet part 3 Flashcards
(95 cards)
WAS
Thrombocytopenia
IL-4, Eczema, IgM
SCID
Adenosine deaminase deficiency, T>B,
frameshift/nonsense mutation,
bacterial & fungal infx
CVID:Common variable immunodeficiency
Tyrosine kinase deficiency, late-onset, frameshift/
missense mutation
HIV (HTLV-l)
Effects CD-4 rich tissues (brain, testicles,
cervix, rectum, blood vessels), T>B
Job Syndrome
red-headed female,
tyrosine kinase deficiency
B-cell def
Bruton’s Agammaglobulinemia - Tyrosine kinase deficiency
Leukemia
Lymphomas
See above for those with T-cell overlap
DiGeorge’s
T-cell
hypocalcemia,
problem with 3rd and 4th pharyngeal pouches,
deletion of chromosome 22
cardio facial malformation
CD4 def
HIV
Chemical Uncouplers
DNP
Free Fatty Acids
Aspirin
ETC complex 1 poison
Sodium amytal, Rotenone
Complex 2 poison
Malonate
complex 3 poison
Antimycin
complex 4
Cyanide
CO
chloramphenicol
complex 5
Oligomycin
Pyruvate
Amino acid
Gly, Ala, Ser
Acetyl CoA
Phe, Iso, Thr, Tyr, Lys, Leu
alpha-KetoG
Glu, Gln
Succinyl CoA
Phe, Ttp, Tyr
Fumerate
Pro
Asp, Asn
Oxaloacetate
PKU def
Phenylalanine hydroxylase deficiency, needed to make tyrosine, leads to a lack of Dopamine, Epi and Norepi, melanin
Maple Syrup Urine Disease
deficiency in branched amino acids (Iso, Leu, Val), defective transport in the kidneys
Cystinuria
Cystathionine synthase deficiency;
cysteine, ornithine, lysine, and arginine; end up in urine, stones
O-bonds aa
Ser, Thr, Trp