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Flashcards in More Lecture 1 Deck (34):
1

SLC

Surrogate light chain

2

Function of surrogate light chain
1)
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

3

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

Ig alpha and Ig beta (heterodimer)
There are two Ig alpha and Ig beta heterodimers

4

What bears the pre-B cell receptor?

Pre B cell

5

When does the B cell receptor form?

Immature B

Once light chains combine with heavy chains

6

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

Ig alpha and Ig beta

7

Function of BLNK protein

Adaptor protein in transduction of pre-BCR success signal

Allows other proteins to bind to it

8

Function of Bruton's tyrosine kinase

Signalling molecule in transduction of pre-BCR success signal

9

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

~85% of cases of agammaglobulinaemia

10

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

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

11

Mean age of agammaglobulinaemia diagnosis

3 years

12

Why don't symptoms of agammaglobulinaemia appear at birth?

Antibodies from mother that cross placenta protect baby

13

Cause of X-linked agammaglobulinaemia

Mutation in Bruton's tyrosine kinase

14

Mutations in Bruton's tyrosine kinase

Over 600 identified

Maintained in population by de novo mutation

No single mutation occurs in over 3% of cases

15

Symptoms of adenosine deaminase deficiency

No T cells
No B cells
No NK cells

16

Symptoms of gammaC chain deficiency

No T cells
B cells
No NK cells

17

Symptoms of JAK3 deficiency

No T cells
B cells
No NK cells

18

Symptoms IL7R deficiency

No T cells
B cells
NK cells

19

Symptoms of RAG deficiency

No T cells
No B cells
NK cells

20

Symptoms of artemis deficiency

No T cells
No B cells
NK cells

21

Which stage of lymphocyte development does adenosine deaminase allow?

Lymphoid-primed multipotent progenitor to early lymphoid progenitor

22

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

Adenosine deaminase

23

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

RAG1/2, Artemis

24

Which step of lymphocyte development do Rag and Artemis allow?

Early lymphoid progenitor to T cell or B cell

25

Which step of lymphocyte development do gammaC and JAK3 allow?

Early lymphoid progenitor to T cell and NK cell

26

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

gammaC, JAK3

27

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

IL7R

28

Which step of lymphocyte development does IL7R allow?

Early lymphoid progenitor to T cell

29

Treatment for agammaglobulinaemia without B cells

Purified IgG from alcohol fractionation of donated blood

30

Methods of purified IgG delivery
1)
2)

1) 400-600mg/kg once every month
2) 100-150mg/kg self-administered every week

31

Normal IgG levels

12g/L

32

Levels of IgG aimed for in treatment

5g/L at trough

33

Half life of IgG

21 days

34

Cost of intravenous Ig treatment for agammaglobulinaemia without B cells

$50,000 per year