Final - autoimmunity

Question 1

genes associated with autoimmunity

Answer 1

• NOD2
• PTPN22
• Cytokine receptors

Question 2

adjuvant effect

Answer 2

• APCs

- up regulation of co stimulators breaks tolerance

Question 3

what is IPEX and what goes wrong

Answer 3

• rare x linked disease

- defect in FOXP3

Question 4

PTPN22 strongly associated with

Answer 4

rheumatoid arthritis

Question 5

immunologic factors associated with rheumatoid arthritis

Answer 5

• RF (rheumatoid factor)
• anti-CCP
• mediators such as TNFa

Question 6

name 4 x-linked autoimmune diseases

Answer 6

• x-linked agammaglobulinemia (Bruton’s)
• hyper IgM syndrome
• SCIDS
• Wiscott-Aldrich syndrome

Question 7

name one dominant and two recessive autosomal immunodeficiency diseases

Answer 7

D: C1 inhibitor deficiency (hereditary angiodema)
R: DiGeorge, SCID (x-linked)

Question 8

main idea behind Bruton’s disease (x-linked) and main characteristic

Answer 8

• B cells can’t mature

- pattern of repeated infections

Question 9

DiGeorge main idea and characteristics

Answer 9

• 22q11 deletion
• 3rd and 4th pharyngeal pouches
• loss of T-cell mediated immunity
• candida (thrush)

Question 10

two types of SCID

Answer 10

• cytokine receptor - x-linked

- ADA - autosomal recessive

Question 11

C1 inhibitor deficiency (hereditary angiodema) main idea and characteristics

Answer 11

• C1, Hagemann factor, degranulation of mast cells

- autosomal dominant

Question 12

importance of gag component of HIV genome

Answer 12

• makes precursor polyprotein which gets processed into important proteins for the capsid, nucleocapsid, and matrix
• p17, 24, 7, 6

Question 13

explain importance of pol component of HIV genome

Answer 13

makes:

• p10 - HIV protein for major processing
• p66/51 - reverse transcriptase
• p32 - integrases

Question 14

explain importance of env component of HIV genome

Answer 14

• protein for envelope

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Question 15

which HIV genome components are targets of anti-HIV protease inhibitor drugs?

Answer 15

pol and gag, because they both create precursor proteins that are processed by viral protease, the drugs target this protease