Zpráva o onemocněních · Immunological

Ataxia-Telangiectasia

Ataxia-telangiectasia is caused by changes in both copies of ATM. It causes progressive loss of coordination from early childhood, small dilated blood vessels in the eyes and skin, immunodeficiency with recurrent chest infections, sensitivity to radiation and a high risk of blood cancers. Carrying a single ATM change is a separate, moderate breast cancer risk and is not covered by this report.

Zpráva o onemocněních hledá vzácné varianty, o nichž je známo, že způsobují onemocnění, na něž se zpráva zaměřuje.