micro drill sheet part 3 Flashcards
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
N-bond aa
Asp, Gln
acidic aa
Asp
Glu
Basic aa
Arg
Lys
Ketogenic
Ketones KiLL
Lys,
Leu
gluco-ketogenic
Phe
Iso
Thr
Trp
Essential aa
PVT
TIM
HALL
Phe def=Tyr essential
Met def=Cys
Trypsin cuts right of
Arg
Lys
Chymotrpsin cut right of
phe
tyr
trp
Elastase cuts right of
gly
ser
ala
mercaptoethanol cuts right of
Met
cys
aminopeptidase cuts
amino terminal
carboxypeptidase cut left of
carboxy terminal
cyanobromid cut left of
met
cAMP
Sympathetic, catabolic, CRH