Diseases

Question 1

Multiple sclerosis mechanism

Answer 1

• immune attack attack against myelin basic sheeth that insulates neurons

Question 2

Cause of hereditary angioedema

Answer 2

• C1q inhibitor deficiency

Question 3

Deficiency of complement associated wtih system lupus erythematosis?

Answer 3

C1q deficiency: normal immune complexes not cleared so get deposited in tissue

Question 4

Defieciency of Factor H/I?

Answer 4

• local complement activation in exposed basement membrane
• in eye and kidney
  macular degeeration

Question 5

HIV subversion of complement? [1 way]

Answer 5

allows C3b deposition on surface to rpomote opsoniziation and allow it to enter cell and take over

Question 6

EBV subversion of complement? [1 way]

Answer 6

has glycoprotein coat similar to C3b that binds CR2 on b cells to allow entery
thats why it primarily infects B cells

Question 7

Strep subversion of complement? [2 ways]

Answer 7

• has M protein that binds factor H and blocsk complement activation
• has peptidase that breaks C5a

Question 8

Effect of deficiency in membrane attack complex

Answer 8

• greater susceptibility to neisseria, meningitis, gonorrhea

Question 9

leukocyte adhesion deficiency syndrome type 1 [mech, effect]

Answer 9

• defect in CD18 that is part of lymphocyte function associated antigen 1 [LFA 1] and complement receptors
• get neutrophilia [high neutrophils in blood]
• lack of pus
• recurrent bacterial infection
• delayed separation of umbilical cord

Question 10

Chronic granulomatous disease [mech, effect]

Answer 10

• neutrophils lack NADPH oxidase so don’t have the microbicidal activity
• get opportunistic infections [staph, e coli, aspergillus]

Question 11

Effect of RAG deficiency?

Answer 11

• Don’t get rearrangement of B and T cell receptors
• No B or T cells
• resembles SCID
• can get spot tumors

Question 12

Disease of deficiency in FoxP3?

Answer 12

• X-linked immunodysregulation [XLA]

Question 13

Goodpastures

Answer 13

• collagen IV in glomerulus

Question 14

Myestenia Gravis

Answer 14

• acetylcholine recetpro

Question 15

Grave’s

Answer 15

• hyperthyroidism

- blocks and activates TSH

Question 16

Celiac

Answer 16

• not food allergy
• triggered by gluten in diet
• activated T cells make IFN-gamma, acivated gluten-specific t cells flatten epithelium

Question 17

SCID [3 causes]

Answer 17

lack of T and/or B and/or NK

• X linked common gamma chain deficiency
• adenosine deaminase deficiency
• RAG1/2 defiency

Question 18

Hyper IgM

Answer 18

• deficiency CD40L on T cell

- no IgG/IgA, some IgM, normal T and B numbers

Question 19

XLA

Answer 19

• deficit in butron’s tyrosine kinase
• prevents normal B cell development and receptor rearrangement
• smallabsent tonsils [no germinal centers]
• low/undetectable IgG/IgA/IgM
• normal lymphocyte numbers, few B cells

Question 20

MHC Class II deficiency

Answer 20

• antigen presentation impaired
• no gamma-globulin
• low T cell numbers

Question 21

stat 3 deficiency

Answer 21

Jobs syndrome

hyper IgE