More Lecture 1

Question 1

SLC

Answer 1

Surrogate light chain

Question 2

Function of surrogate light chain
1)
2)

Answer 2

1) Act as a generic light chain to bind to recombined heavy chain
2) Complex with heavy chain and scaffolding molecules to send ‘success’ signal

Question 3

What does the IgH-SLC complex with to form pre-BCR?

Answer 3

Ig alpha and Ig beta (heterodimer)

There are two Ig alpha and Ig beta heterodimers

Question 4

What bears the pre-B cell receptor?

Answer 4

Pre B cell

Question 5

When does the B cell receptor form?

Answer 5

Immature B

Once light chains combine with heavy chains

Question 6

What does the B cell receptor complex with the send success signal?

Answer 6

Ig alpha and Ig beta

Question 7

Function of BLNK protein

Answer 7

Adaptor protein in transduction of pre-BCR success signal

Allows other proteins to bind to it

Question 8

Function of Bruton’s tyrosine kinase

Answer 8

Signalling molecule in transduction of pre-BCR success signal

Question 9

What do mutations in Bruton’s tyrosine kinase result in?

Answer 9

~85% of cases of agammaglobulinaemia

Question 10

Symptoms of agammaglobulinaemia
1)
2)
3)
4)
5)

Answer 10

1) No, or little serum antibodies of any type
2) Functional T cells
3) No B cells
4) Recurrent infections (mostly strep pneumoniae, haemophilus influenzae)
5) Repeated otitis in children, sinusitis in adults

Question 11

Mean age of agammaglobulinaemia diagnosis

Answer 11

3 years

Question 12

Why don’t symptoms of agammaglobulinaemia appear at birth?

Answer 12

Antibodies from mother that cross placenta protect baby

Question 13

Cause of X-linked agammaglobulinaemia

Answer 13

Mutation in Bruton’s tyrosine kinase

Question 14

Mutations in Bruton’s tyrosine kinase

Answer 14

Over 600 identified

Maintained in population by de novo mutation

No single mutation occurs in over 3% of cases

Question 15

Symptoms of adenosine deaminase deficiency

Answer 15

No T cells
No B cells
No NK cells

Question 16

Symptoms of gammaC chain deficiency

Answer 16

No T cells
B cells
No NK cells

Question 17

Symptoms of JAK3 deficiency

Answer 17

No T cells
B cells
No NK cells

Question 18

Symptoms IL7R deficiency

Answer 18

No T cells
B cells
NK cells

Question 19

Symptoms of RAG deficiency

Answer 19

No T cells
No B cells
NK cells

Question 20

Symptoms of artemis deficiency

Answer 20

No T cells
No B cells
NK cells

Question 21

Which stage of lymphocyte development does adenosine deaminase allow?

Answer 21

Lymphoid-primed multipotent progenitor to early lymphoid progenitor

Question 22

Which enzyme allows progression from lymphoid-primed multipotent progenitor to early lymphoid progenitor?

Answer 22

Adenosine deaminase

Question 23

Which enzymes allow progression from early lymphoid progenitor to T and B cells?

Answer 23

RAG1/2, Artemis

Question 24

Which step of lymphocyte development do Rag and Artemis allow?

Answer 24

Early lymphoid progenitor to T cell or B cell

Question 25

Which step of lymphocyte development do gammaC and JAK3 allow?

Answer 25

Early lymphoid progenitor to T cell and NK cell

Question 26

Which enzymes allow progression from early lymphoid progenitors to NK cells and T cells?

Answer 26

gammaC, JAK3

Question 27

Which enzyme allows progression from early lymphoid progenitor to T cell?

Answer 27

IL7R

Question 28

Which step of lymphocyte development does IL7R allow?

Answer 28

Early lymphoid progenitor to T cell

Question 29

Treatment for agammaglobulinaemia without B cells

Answer 29

Purified IgG from alcohol fractionation of donated blood

Question 30

Methods of purified IgG delivery
1)
2)

Answer 30

1) 400-600mg/kg once every month

2) 100-150mg/kg self-administered every week

Question 31

Normal IgG levels

Answer 31

12g/L

Question 32

Levels of IgG aimed for in treatment

Answer 32

5g/L at trough

Question 33

Half life of IgG

Answer 33

21 days

Question 34

Cost of intravenous Ig treatment for agammaglobulinaemia without B cells

Answer 34

$50,000 per year