X Linked Agammaglobulinaemia (XLA)

Question 1

What is XLA?

Answer 1

It is an X linked recessive condition - resulting in abnormal B cell development and a deficiency in all immunoglobulins/antibodies.

Question 2

What stage of B cell production is halted?

Answer 2

Pre B cell (in the bone marrow)

Question 3

Who is affected by XLA?

Answer 3

Mostly males (X linked recessive).
Females are usually carriers but not affected.

Question 4

What are immunoglobulins?

Answer 4

Matured B cells secreted into the blood by plasma.

Question 5

What are the main steps in B cell production?

Answer 5

Bone marrow:
Pluripotent stem cell
Lymphoid precursor cell
Pro B cell
Pre B cell 
Immature B cell

Then migrates to the spleen:
Mature or naive B cell
Moves into the blood after being exposed to an antigen

Question 6

What does BTK enzyme do?

Answer 6

Important for development and function of B cells.

Question 7

what is BTK enzyme short for?

Answer 7

Brutons tyrosine kinase

Question 8

What caused XLA?

Answer 8

A mutation in the BTK enzyme main it ineffective.

So no B cells make it past the pre B stage and none leave the bone marrow.

Question 8

What caused XLA?

Answer 8

A mutation in the BTK enzyme main it ineffective.

So no B cells make it past the pre B stage and none leave the bone marrow.

Question 9

When do symptoms of XLA begin?

Answer 9

After 6 months because up until then they are using their mothers supply of immunoglobulins.

Question 10

What infections are common in XLA?

Answer 10

Pharyngitis
sinusitis
otitis media
bronchitis
pneumonia
polio

Question 11

What must be avoided?

Answer 11

Live attenuated vaccines

Question 12

What is important to remember in XLA?

Answer 12

T cell mediated immunity is still working - so some viral, fungal and protozoal infections can be cleared.

Question 13

What is the treatment for x-linked agammaglobulinaemia?

Answer 13

Lifelong monthly IV immunoglobulin.

Antibiotics straight away for infection.