B3.060 - FLIP Dysregulation

Question 1

Wiskott Aldrich syndrome

Answer 1

Mutation in WASp protein found in cytoplasm in cells of hematopoietic lineage except RBCs

Question 2

What is Classic WAS

Answer 2

Absent or truncated WASp, loss of function phenotype

Question 3

What is X linked thrombocytopenia

Answer 3

Mutated, non functional protein, no autoimmunity, loss of function phenotype

Question 4

What is X linked neutropenia

Answer 4

Missense mutation in GTPas binding domain
No autoinhibitory action of protein
Uncontrolled active polymerization
Gain of function phenotype

Question 5

What causes WBC baldness?

Answer 5

Lack of actin polymerization