Wiskott-Aldrich Syndrome Flashcards
1
Q
What mutations account for Wiskott-Aldrich Syndrome?
A
mutations on the Wiskott-Aldrich syndrome protein (WASP)
2
Q
Where is WASP located?
A
on the X chromosome
3
Q
In what cells is WASP expressed?
A
Leukocytes and Megakaryocytes
4
Q
What is WASP’s function?
A
Involved in the reorganization of actin cytoskeleton
5
Q
What cell is affected in Wiskott-Aldrich Syndrome?
A
T cell function because when the t cell is activated, it relies on the cytoskeleton to rearrange receptors to activate
6
Q
What cell is disfunctional because of wiskott-Aldrich syndrome?
A
Platelets
7
Q
How does the mutated WASP, which is responsible for reorganizing the actin cytoskeleton, affect immune cell function?
A
Immune cels have dysfunctional motility and cytotoxic functions
