Ataxia Telangiectasia Flashcards
1
Q
What are the mutations that are responsible for ATM?
A
Mutations in ATM affecting
- DNA repair enzyme
- Defect in VDJ recombination
2
Q
Because ATM mutations cause defective VDJ recombination, how would lymphocyte numbers reflect this?
A
Lymphocyte numbers would be low
3
Q
What is the presentation of ATM?
A
Vascular malformations, abnormal eye movements, immune deficiency, gait abnormalities (Ataxia)
