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biochem/ genetic Flashcards

1
Q

What is the most common intracellular buffer?

A

Protein

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2
Q

What is the most common extracellular buffer?

A

Bicarbonate

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3
Q

What is a Zwitterion?

A

A molecule with one negative and
one positive end

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4
Q

What is the Isoelectric Point?

A

The pH at which there is no net charge

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5
Q

What is the rate limiting
enzyme in Glycolysis?

A

PFK-1

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6
Q

What is the rate limiting
enzyme in Gluconeogenesis?

A

Pyruvate carboxylase

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7
Q

What is the rate limiting enzyme in the HMP shunt?

A

G-6PD

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8
Q

What is the rate limiting enzyme in Glycogenesis?

A

Glycogen synthase

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9
Q

What is the rate-limiting enzyme in Glycogenolysis?

A

Glycogen phosphorylase

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10
Q

What is the rate limiting enzyme in FA synthesis?

A

AcCoA carboxylase

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11
Q

What is the rate limiting enzyme in β- oxidation?
Adrenaluekodystrophy

A

CAT-1

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12
Q

What is the rate limiting enzyme in Cholesterol synthesis?
(Redox reaction)

A

HMG CoA reductase

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13
Q

What is the rate limiting enzyme in Ketogenesis?

A

HMG CoA synthase

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14
Q

HMG CoA reductase

A

rate limiting enzyme in Cholesterol synthesis?

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15
Q

What is the rate limiting enzyme in Purine synthesis?

A

PRPP synthase

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16
Q

Asp transcarbamoylase pathway?

A

rate limiting enzyme in Pyrimidine synthesis?

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17
Q

rate limiting enzyme in TCA cycle?

A

Isocitrate dehydrogenase

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18
Q

What is the rate limiting enzyme in Urea cycle?

A

CPS-I
Carbamoyl phosphate synthetase I

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19
Q

90% of Autosomal recessive disorder are?

A

Enzyme deficiency

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20
Q

AD diseases are mostly: enzyme or structural

A

Structural protein

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21
Q

What is the rate limiting enzyme in Heme synthesis? -ALA synthase

A

delta-ALA synthase

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22
Q

the catabolic pathways that create energy

A

“ABC”
AcetylCoA production
beta-oxidation
Citric acid cycle

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23
Q

What are the anabolic pathways that store energy?

A

“EFGH” :
ER,
Fatty acid synthesis,
Glycolysis,
HMP shunt

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24
Q

What are the anabolic + catabolic pathways

A

“HUG”
Heme synthesis
Urea cycle
Gluconeogenesis

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25
Q

What does a Kinase do?

A

Phosphorylates using ATP

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26
Q

What does a Phosphorylase do?

A

Phosphorylates using Pi

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27
Q

What does a Carboxylase do?

A

Forms C-C bonds (w/ ATP and biotin) using CO

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28
Q

What does a Synthase do?

A

Consumes 2 substrates equally

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29
Q

What does a Synthetase do?

A

Consumes 2 substrates, uses ATP

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30
Q

What is Zero-order kinetics?

A

Metabolism independent of concentration

constant amount

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31
Q

What is 1st-order kinetics

A

Constant drug percentage metabolism over time, depends on drug

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32
Q

Km =

A

0.5 Vmax
=1/affinity
=1/potency

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33
Q

What affects Potency?

A

Km

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34
Q

What effects Efficacy?

A

Vmax

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35
Q

What is Efficacy?

A

Max effect regardless of dose (lower w/ non-competitive antagonist)

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36
Q

What is EC50

A

Concentration of drug that produces 50% of maximal response

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37
Q

What is Competitive Inhibition?

A

Fights for active site, no change in Vmax, potency decreases

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38
Q

What is Non-competitive Inhibition?

A

Binds a regulatory site, no change in Km, efficacy decreases, decreases Vmax

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39
Q

What is an Endothermic Reaction?

A

Consumes heat

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40
Q

What is an Exothermic Reaction?

A

Gives off heat

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41
Q

What is the Peak level?

A

4 hrs after dose (too high => decrease dose)

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42
Q

What is the Trough level?

A

2 hrs before dose (too high => give less often)

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43
Q

What is t1/2?

A

Half-life, the time it takes for the body to use half of the drug ingested

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44
Q

What is von Gierke?

A

Glucose-6-phosphatase deficiency => hypoglycemia, hepatosplenomegaly

can’t get glucose out the cell, hi lipid, muscle breakdown

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45
Q

What is Pompe’s?

A

a-1,4-glucosidase deficiency => DIE early
lysosomal

cardio| debranching enzyme

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46
Q

What is Cori’s?

A

Debranching enzyme deficiency => short branches of glycogen

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47
Q

What is Anderson’s?

A

Branching enzyme deficiency => long chains of glycogen

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48
Q

What is McArdle’s

A

Muscle phosphorylase deficiency => muscle cramps w/ exercis

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49
Q

What is Essential Fructosuria?

A

Fructokinase deficiency => excrete fructose (still have hexokinase

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50
Q

What is Fructosemia?

A

“Fructose intolerance”
(Aldolase B deficiency ) => liver damage

severe

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51
Q

What does a Galactokinase deficiency cause?

A

Cataracts

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52
Q

What does Galactosemia cause?

A

Cataracts, mental retardation, liver damage

Galactose-1-phosphate uridyltransferase

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53
Q

What does the Citrate shuttle do?

A

FA transport out of the mitochondria

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54
Q

What does the Carnitine shuttle do

A

FA transport into the mitochondria

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55
Q

What lysosomal diseases have a cherry- red macula

A

Tay-Sachs, Neimann-Pick

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56
Q

What lysosomal diseases have a Gargoyle-face?

A

Gaucher’s, Hurler’s

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57
Q

Hexosaminidase A deficiency => blindness, incoordination, dementia

A

What is Tay-Sachs?

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58
Q

Hexosaminidase A/B deficiency

A

sandhoff’s

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59
Q

Glucocerebrosidase deficiency => wrinkled tissue MP, bone pain

sphingolipid found in cell membranes

A

Gaucher

β-glucocerebrosidase → accumulation of glucocerebroside

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60
Q

description

Gaucher cell:

macrphages

A

lipid-rich macrophages with an enlarged cytoplasm with inclusions

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61
Q

Neimann-Pick?

enzyme

A

Sphingomyelinase deficiency => zebra bodies

myelinoid memb -> parallel palisading lamellae in lysosomal cytoplasm

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62
Q

neimann-pick

lipid-laden macrophages

light microscope

A

foam cells

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63
Q

6 actions of TCA

A
  1. SNRI: Block reuptake of catecholamines, increasing the level: hypertension
  2. strongly anticholinergic: no sweating, hot, dry skin, and hyperthermia
  3. Block alpha-1 receptor drop BP
  4. Blocks Na in ventricle
  5. Blocks AV conduction: slow
  6. Antihistaminic
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64
Q

a-galactosidase deficiency => corneal clouding, attacks baby’s kidneys, X- linked

A

What is Fabry’s?
X-linked

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65
Q

X-linked Recessive Enzyme

A

G6pd
F
H
CGD
HGRPT
CAT-1
AD
OTC
PRPP synthetase
Tyrosine Kinase

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66
Q

What is Krabbe’s?

A

b-galactosidase deficiency => globoid bodies

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67
Q

What is Metachromatic Leukodystrophy?

A

Arylsulfatase deficiency => childhood MS

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68
Q

Mucopolysaccharidoses

What is Hunter’s?

enzyme

A

Iduronidase deficiency, milder form

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69
Q

What is Lesch-Nyhan?

A

(HGPRT deficiency) => gout, neuropathy, self-mutilation

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70
Q

Mucopolysaccharidoses

What is Hurler’s?

enzyme:

A

Iduronidase deficiency, worse form

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71
Q

What do white diaper crystals suggest?

A

Excess orotic acid

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72
Q

What does biotin donate CO2 groups for?

A

Carboxylation

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73
Q

What does THF donate methyl groups for?

A

Nucleotides

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74
Q

What does SAM donate methyl groups for?

A

All other reactions

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75
Q

What is the difference b/w Heterochromatin and Euchromatin?

A

Heterochromatin = tightly coiled Euchromatin = loose (10nm fibers)

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76
Q

What are the Purines?

A

A, G

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77
Q

What are the Pyrimidines?

A

CUT

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78
Q

What is a silent mutation?

A

Changes leave the same amino acid:
wabble positon

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79
Q

What is a point mutation?

A

Changes 1 base

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80
Q

What is a transition?

A

Changes 1 purine to another purine or pyrimidine to pyrimidine

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81
Q

What is a transversion?

A

Changes 1 purine to a pyrimidine or vice versa

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82
Q

What is a frameshift mutation

A

Insert or delete 1-2 bases

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83
Q

What is a missense mutation?

A

Mistaken amino acid substitution

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84
Q

What is a nonsense mutation?

A

Early stop codon

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85
Q

What does a Southern blot detect?

A

DNA

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86
Q

What does a Northern blot detect?

A

RNA

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87
Q

What does a Western blot detect?

A

Protein

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88
Q

What are the essential amino acids

A

“PVT TIM HALL”

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89
Q

What are the essential fatty acids?

A

Linolenic

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90
Q

What are the acidic amino acids?

neg charge

A

Asp, Glu

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91
Q

What are the basic amino acids?

pos charge

A

His, Arg, Lys

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92
Q

What are the O-bond amino acids?

A

Ser, Thr, Tyr

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93
Q

What are the N-bond amino acids?

A

Asparagine, Glutamine

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94
Q

What are the branched amino acids?

A

Leu, Ile, Val

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95
Q

What are the aromatic amino acids?

A

Phe, Tyr, Trp

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96
Q

What is the smallest amino acid?

A

Gly

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97
Q

What are the ketogenic amino acids

A

Lys, Leu

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98
Q

What are the glucogenic + ketogenic amino acids?

A

“PITT” Phe, Iso, Thr, Trp

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99
Q

What are the glucogenic amino acids?

A

All the rest

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100
Q

What amino acids does Trypsin cut?

Trip to LA

A

Lys, Arg

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101
Q

What amino acids has sulfur

A

Cys, Met

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102
Q

What amino acids does Acid Hydrolysis denature?

A

Asn, Gln

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103
Q

What amino acids does Chymotrypsin cut?

A

Phe, Tyr, Trp

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104
Q

What amino acid turns yellow on Nurhydrin reaction?

A

Pro

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105
Q

What does Carboxypeptidase cut?

A

Left of any amino acid on the carboxy terminal

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106
Q

What does Aminopeptidase cut?

A

Right of N terminus

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107
Q

What does CNBr cut?

A

Right of Met

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108
Q

What does Mercaptoethanol cut?

A

Right of Cys, Met

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109
Q

What does Elastase cut?

A

Right of Gly, Ala, Ser

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110
Q

What does Trypsin cut?

A

Arg, Lys

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111
Q

What does Chymotrypsin cut?

A

Phe, Tyr, Trp

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112
Q

What 1 – AntiTrypsin do?

A

Inhibits trypsin from getting loose

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113
Q

What is PKU?

A

No Phe (via Phe Hydroxylase): Nutrasweet sensitivity, mental retardation, pale, blond hair, blue eyes, musty odor

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114
Q

What is Albinism?

A

No Tyr –>

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115
Q

What is Maple Syrup Urine disease?

A

Defective metabolism of branched aa (Leu, Iso, Val) =>aa leak out

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116
Q

What is Homocystinuria?

A

No Homocystine Cys: “COLA” stones Cystine, Ornithine, Lysine, Arginine

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117
Q

What is Pellagra?

A

Niacin deficiency: Dermatitis, Diarrhea, Dementia, Death

118
Q

What is Hartnup’s?

A

No Trp => Niacin + Serotonin
. Presents like Pellagra
. Can mimic corn-rich diet

119
Q

What causes anterior leg bowing?

A

Neonatal syphilis

120
Q

What causes lateral leg bowing?

A

Rickets

vit D deficiency

121
Q

What are the names of the B vitamins

A

“The Rich Never Lie about Panning vitamins? Pyrite Filled Creeks”
Vit B1 = Thiamine
Vit B2 = Riboflavin
Vit B3 = Niacin
Vit B4 = Lipoic acid
Vit B5 = Pantothenic acid
Vit B6 = Pyridoxine
Vit B7 = Biotin
Vit B9 = Folate
Vit B12 = Cobalamin

122
Q

What does Vit A do?

A

Night vision, CSF production, PTH
rapid cell maturation

123
Q

What does Vit B1 do?

reations?

A

Dehydrogenases, transketolase (PPP) cofactors

124
Q

What does Vit B2 do?

A

FAD cofactor

125
Q

What does Vit B3 do?

A

NAD cofactor or NADP

126
Q

What does Vit B4 do?

A

Glycolysis, no known diseases

127
Q

What does Vit B5 do?

A

Part of AcetylCoA, no known diseases

128
Q

What does Vit B6 do?

A

Transaminase cofactor, myelin integrity

129
Q

What does Vit B9 do?

A

Nuclear division

130
Q

What does Vit B12 do?

A

Cofactor for HMT and MMM

Homocysteine methyltransferase
Methyl Malonyl CoA Mutase

131
Q

What does Vit C do?

A

Collagen synthesis
Antioxidant

132
Q

What does Vit D do?

A

Mineralization of bones, teeth
Absorb Ca and PO4 from GI

133
Q

What does Vit K do?

A

Clotting factors

134
Q

What does Biotin do?

A

Carboxylation

135
Q

What does Ca2+ do?

A

Neuronal function, atria depolarization, SM contractility

136
Q

What does Cu2+ do?

A

Collagen synthesis

137
Q

What does Fe2+ do?

A

Hb function, electron transport

138
Q

What is Bronze pigmentation?

A

Fe deposit in skin

139
Q

What is Bronze cirrhosis?

A

Fe deposit in liver

140
Q

What is Bronze diabetes?

A

Fe deposit in pancreas

141
Q

What is Hemosiderosis?

A

Fe overload in bone marrow

142
Q

What is Hemochromatosis?

A

Fe deposit in organs

143
Q

What does Mg2+ do?

A

PTH and kinase cofactor

144
Q

What does Zn2+ do?

A

Taste buds, hair, sperm function

145
Q

What does Chromium do?

A

Improve Insulin function

146
Q

What does Mb do?

A

Purine breakdown (xanthine oxidase)

147
Q

What does Manganese do?

A

Glycolysis
Stimulates insulin production,activity n glucose uptake

148
Q

What does Selenium do?

A

Heart function => dilated cardiomyopathy

149
Q

What does Tin(Sn) do

150
Q

What is Kwashiorkor?

A

Malabsorption, big belly (ascites), protein deficiency

151
Q

What is Marasmus?

A

Starvation, skinny, calorie deficiency

152
Q

Where does the Pre label send stuff
to?

153
Q

Where does the Pro label send stuff
to

154
Q

Where does the Mannose-6-P send stuff to?

155
Q

Where does the N-terminal sequence send stuff to?

A

Mitochondria

156
Q

What are the 4 types of collagen?

A

“SCAB”
Type I: Skin, bone
Type II: Connective tissue, aqueous humor
Type III: Arteries
Type IV: Basement Membrane

157
Q

How does Scleroderma present?

A

Tight skin

158
Q

How does Ehlers Danlos present?

A

Hyperstretchable skin

159
Q

How does Marfan’s present?

A

Hyperextensible joints, arachnodactyly, wing span longer than height, Aortic root dilatation, aortic aneurysm, mitral valve prolapse, Dislocated lens from bottom of eye look up

160
Q

How does Homocystinuria present?

A

Dislocated lens from top –> Look down

161
Q

How does Kinky hair disease present?

A

Hair looks like copper wire (Cu deficiency)

162
Q

How does Scurvy present?

A

Bleeding gums, bleeding hair follicles

163
Q

How does Takayasu arteritis present?

A

Asian female with very weak pulse

164
Q

How does Osteogenesis Imperfecta present?

A

Shattered bones, blue sclera

165
Q

What is the typical incidence of rare things?

166
Q

What is the typical incidence with 1 risk factor?

167
Q

What is the typical incidence with 2 risk factors?

168
Q

What is the typical incidence with 3 risk factors?

169
Q

What does Autosomal Dominant usually indicate?

A

Structural problem, 50% chance of passing it on

170
Q

What does Autosomal Recessive usually indicate?

A

Enzyme deficiency, 1/4 get it, 2/3 carry it

171
Q

Where did X-linked Recessive diseases come from?

A

From maternal uncle or grandpa

172
Q

What are the X-linked Dominant diseases?

A

Vit D-resistant rickets (kidney leaks phosphorus): waddling gait

Pseudohypoparathyroidism:
sausage digits, osteodystroph

173
Q

Where did X-linked Dominant
diseases come from?

A

Dad–> Daughter

174
Q

What are the Mitochondrial diseases?

A

Leber’s = atrophy of optic nerve
Leigh’s = subacute necrotizing
encephalomyelopathy

175
Q

Where did Mitochondrial diseases come from?

A

Mom–> all kids

176
Q

Why do we only have 6hrs to use t-PA?

A

The body has irreversible cell injury

177
Q

Why do we stop CPR after 20-30min

A

The brain has irreversible cell injury

178
Q

What is Turner’s?

A

(X,O): web neck, cystic hygroma, shield chest, coarctation of aorta, rib notching

179
Q

What is Klinefelter’s?

A

(47, XXY): tall, gynecomastia, infertility, decrease testosterone

180
Q

What is XXX syndrome?

A

(47, XXX): normal female w/ two Barr bodies

181
Q

What is XYY syndrome?

A

(47, XYY): tall aggressive male

182
Q

What is Trisomy 13?

A

Patau’s, polydactyly, high arch palate, pee problem, holoprosencephaly

183
Q

What is Trisomy 18?

A

Edward’s, rocker bottom feet

184
Q

What is Trisomy 21?

A

Down’s, simian crease, wide 1st/2nd toes, macroglossia, Mongolian slant of eyes, Brushfield spots, retardation AML

185
Q

What disease has a Dinucleotide repeat?

A

HNPCC (FAP)

186
Q

What diseases have Trinucleotide repeats?

A

Huntington’s, Fragile X, Myotonic Dystrophy, Friedreich’s Ataxia

187
Q

What is Angelman’s?

A

“Happy puppet syndrome”, ataxia

188
Q

What is Prader-Willi?

A

Hyperphagia, hypogonadism, almond- shaped eyes

189
Q

What is Kallman’s?

A

Anosmia, small testes

190
Q

What is Anaplasia?

A

Regress to infantile state

191
Q

What is Atrophy?

A

Decreased organ or tissue size

192
Q

What is Desmoplasia?

A

Cell wraps itself w/ dense fibrous tissue

193
Q

What is Dysplasia “carcinoma in situ”?

A

Lose contact inhibition (cells crawl on each other)

194
Q

What is Hypertrophy?

A

Increased cell size

195
Q

What is Hyperplasia?

A

Increased cell number

196
Q

What is Metaplasia?

A

Change from one adult cell type to another

197
Q

What is Neoplasm?

A

New growth

198
Q

What is Benign?

A

Well circumscribed, freely movable, maintains capsule, obeys physiology, hurts by compression, slow growing

199
Q

What is Malignant?

A

Not well circumscribed, fixed, no capsule, doesn’t obey physiology, hurts by metastasis, rapidly growing (outgrows angiogenin and endostatin to inhibit blood supply of other tumors)

200
Q

What are the fastest killing cancers?

A

Pancreatic cancer, Esophageal cancer

201
Q

What does Adeno- tell you?

202
Q

What does Leiomyo- tell you?

A

Smooth muscle

203
Q

What does Rhabdomyo- tell you?

A

Skeletal muscle

204
Q

What does Hemangio- tell you?

A

Blood vessel

205
Q

What does Lipo- tell you?

206
Q

What does Osteo- tell you?

207
Q

What does Fibro- tell you?

A

Fibrous tissue

208
Q

What does –oma tell you?

209
Q

What does –carcinoma tell you?

210
Q

What does –sarcoma tell you?

A

Connective tissue cancer

211
Q

What is a Hamartoma?

A

Abnormal growth of normal tissue

212
Q

What is a Choristoma?

A

Normal tissue in the wrong place

213
Q

What is the most common anterior mediastinum tumor?

214
Q

What is the most common middle mediastinum tumor?

A

Pericardial

215
Q

What is the most common posterior mediastinum tumor?

A

Neuro tumors

216
Q

What organs have the most common occurrence of metastasis?

highly vascular organs

A

“BBLLAP”
Brain (grey-white jxn)
Bone (bone marrow)
Lung
Liver (portal vein, hepatic artery)
Adrenal gland (renal arteries)
Pericardium (coronary arteries)

217
Q

What cancers have psammoma bodies?

A

Papillary (thyroid)
Serous Adenocarcinoma (ovary)
Meningioma
Mesothelioma

218
Q

What cancer has CA-125

219
Q

What cancer has CA-19?

A

Pancreatic

220
Q

What cancer has S-100?

221
Q

What cancer has BRCA?

222
Q

What cancer has PSA?

223
Q

What cancer has CEA?

A

Colon, Pancreatic

224
Q

What cancer has AFP?

A

Liver, Yolk sac

225
Q

What cancer has Rb?

A

Ewing’s sarcoma, Retinoblastoma

Osteosarcoma

226
Q

What cancer has Ret?

A

Medullary thyroid cancer

MEN2a/b

227
Q

What cancer has Ras?

228
Q

What cancer has bcl-2?

A

Follicular lymphoma

t(14:18)

229
Q

What cancer has c-myc?

A

Burkitt’s lymphoma

T(8:14)

230
Q

What cancer has L-myc?

A

Small cell lung carcinoma

231
Q

G1 phase cell apoptosis

tumor supressor

A

P53

Li-Fraumeni

232
Q

tumor supressor

inhibit E2F transcription factor

A

Rb
Osteosarcoma
Retinoblastoma

233
Q

tumor supressor

APC gene product

function

A

inhibit Beta catenin systesis

inhibit unregulated proliferation

234
Q

APC cancer

A

FAP &
sporadic colorectal cancer

235
Q

tumor suppressor

trascription factor that regulates urogenital development

A

WT1/2

Wilms tumor

235
Q

Tumor suppressor

BRCA 1/2 gene product

A

DNA repair protein

Breast, ovary , pancrease

236
Q

What cancer has N-myc?

A

Neuroblastoma => pseudorosettes

Bombesin

237
Q

What cancer has Bombesin?

A

Neuroblastoma

238
Q

What cancer has -HCG?

A

Choriocarcinoma

239
Q

What cancer has 5-HT?

A

Carcinoid syndrome

240
Q

What has t(9,22)?

A

CML (bcr-abl gene)

CLL & ALL

241
Q

What has t(14,18)?

A

Follicular lymphoma (bcl-2 gene)

242
Q

What has t(8,14)?

A

Burkitt’s lymphoma (c-myc gene)

243
Q

What has t(15,17)?

A

AML M3

Promyelocytic leukemia protein

244
Q

What has t(11,22)?

A

Ewing’s sarcoma

245
Q

PNH an acquire hematopoietic mutation is associated with

A

Aplastic anemia

Specktrin/Ankerin

MAC

246
Q

association

CD59/MIRL (Membrane inhibitor of reactive lysis)
CD55/DAF (Decay-accelerating factor)

A

PNH &
Myelodysplastic neoplasms

247
Q

PNH lab
LDH=
Cell line=
Bilirubin =

A

Pancytopenia, high serum LDH, hyperbilirubinemia,

248
Q

Defect in PNH
HAM’s test

A

Glycosylphosphatidylinositol (GPI)
DAF:CD 55 AND CD59 ON CELL MEMBRANE

249
Q

Moa of Botox

A

Prevent ACH release by cleaving snare protein

250
Q

Alport syndrome inheritance pattern

A

X-linked dominant

251
Q

NF-1 associated with

A

Cafe-au-lair spot, Lisch nodules, scoliosis
Variable expressively

252
Q

Median-chain acyl-CoA dehydrogenase function (MCAD)

A

Oxidized fatty acid
FADH2

low ketones
Low glucose

253
Q

MCAD def sign
Lab

A

Low glucose
No ketones
Octanoyl-glycine

254
Q

what is a tumor suppresor gene

A

controls and suppress cell prolifertion

loss of function

255
Q

RNA analysis

A

Northern blot

255
Q

What is a proto-oncogene

A

encodes protein for normal cell division and differentiation

gene of function/overexpression

256
Q

Tumor suppressor

NF 1/2 chromosome

A

17 periferal
22 schwannomin

257
Q

proto-oncogene

t(11:14)

A

mantle cell lymphoma

258
Q

proto-oncogene

BCL-2

A

Folicular lymphoma

259
Q

proto-oncogene

L/N/C- myc

product

A

transcription factors

Cancers?

260
Q

proto-oncogene

BCR-ABL gene product

A

non-receptor tyrosine kinase
CML: t(9:22)
ALL

261
Q

proto-oncogene

BRAF product

A

serine/threonine kinase

melanoma
hairy cell leukemia
papillary thyroid
non-hodgkin

PsaMmoma bodies

262
Q

proto-oncogene

RET

263
Q

depletion of which cofactor inhibits glycolysis

264
Q

Presentation

Bubble kids: all infections

defect

A

IL2 receptor
adenosine deaminase(x-linked)

SCID

265
Q

Presentation

Thymic hypoplasia/low Calcium

defect

A

Deletion Chromosome 22/
3 pharyngeal pouch

DiGeorge

266
Q

presentation

Young adult Bacteria, Parasite, Enterovirus

A

Defective plasma Cells
Normal B cells
Low IgA

266
Q

presentation

Bacteria, parasite, enterovirus in boys

Defect

A

BTK gene, tyrosine kinase,
Low B cells
Low IgA

Bruton’s

267
Q

Presentation

Infections, ataxia, telangiectasias
Ataxia Telangectasia

Gene?

A

ATM gene
defective DNA repairs

268
Q

presentation

Delayed umbilical cord detachment

LAD

A

Defective CD18
integrins (adhesion)

269
Q

presentation

Catalase pos infection/Rhodamine

defect

A

NADPH deficiency

CGD

270
Q

presentation

Albinism/neurological symptoms

defect

A

Lysosomal movement impairment

Chediak-Higashi

271
Q

presentation

Cold abscess/exzema/Normal platelets

defect

A

Defective Th17-JAK-STAT

Job/Hi IgE

272
Q

presentation

abscess/eczema/Low platelets
Wiskott-Aldritch

What is the defect?

A

WAS gene cytoskeleton defect

273
Q

Immature T Cell marker

274
Q

T Helper marker

275
Q

Cytotoxic cell marker

276
Q

Hairy cell leukemia marker

277
Q

CD 14
CD4

A

macrophage
monocyte

278
Q

CD 15/30

A

Reed Stemberg Cells

279
Q

NK cell marker

280
Q

CD18 integrins

A

Leukocyte adhesion Deficiency B2

281
Q

CD19/20/21

A

mature BCell

282
Q

CD 25

A

T reg Cell

283
Q

CD 28
Connects to B7

A

T Cll Co stimulation receptor

284
Q

PECAM-1angiosarcomas

285
Q

paroxysmal Nocturnal Hemoglobinuria marker

286
Q

CD80/B7

A

Protein in the APC

287
Q

inhibits beta-oxidation

A

Malonyl-CoA

288
Q

MOA of Acetyl-CoA carboxylase

A

converts Acetyl-CoA to Malonyl-CoA

de novo fatty acid synthesis rate-limiting step

289
Q

mitochondrial carnitine acyltransferase is inhibited by

A

hi malonyl-CoA

Step 1 Clues (27 decks)

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