Ataxia telangiectasia Flashcards
1
Q
Ataxia telangiectasia
A
- ATM gene mutation
- remember that Ataxia comes before Telangiectasias (just like in the name)
- non-infectious granulomas
- Immunodeficiency-→ decreased immunoglobulins
- Sinopulmonary infections (number 1 causes of death)
- increased malignancy (leukemia, lymphoma, breast cancer)
- X-rays cause damage
- Screen Heterozygote females for breast cancer
