Summary of Ataxia telangiectasia
Flashcards on Ataxia telangiectasia
Ataxia telangiectasia is a primary immunodeficiency that involves a defect in the gene, thereby leading to many double stranded DNA breaks and arrest of the cell cycle.
Questions on Ataxia telangiectasia
A 4-year-old boy comes to the clinic with his parents for a routine physical examination. His parents say that he has had an increasing instability in his gait for the past 2 weeks. He started walking at 14 months but was always wobbly on his feet, however, this has significantly worsened over the past 2weeks. His medical history is remarkable for recurrent episodes of sinus infections and an episode of bronchitis last year. He also had ear tubes placed last year because of recurrent ear infections. His temperature is 37.5°C (99.5°F), pulse is 67/min, respirations are 12/min, and blood pressure is 125/83 mmHg. Physical examination shows difficulty tracking an object smoothly and telangiectasias on the pinna of his ear. Which of the following is the most likely underlying mechanism of his disease?