An 8 year old boy is brought to the physician because of frequent ear infections and progressive difficulty walking. His parents report that he often stumbles and has had several episodes of sinusitis and pneumonia. Physical examination shows conjunctival telangiectasias and a wide based gait. Laboratory studies show low IgA levels and elevated alpha fetoprotein. Which of the following cellular functions is most likely impaired in this patient?
- A)Expression of MHC class II molecules on antigen presenting cells
- B)Generation of reactive oxygen species in neutrophils
- C)Development of thymic epithelium
- D)Adhesion of neutrophils to vascular endothelium
- E)Repair of DNA double strand breaksGABARITO
Explicação
Ataxia telangiectasia is caused by mutation of the ATM gene, which is involved in sensing and repairing DNA double strand breaks. The combination of cerebellar ataxia, telangiectasias, recurrent sinopulmonary infections, low IgA, and elevated alpha fetoprotein... Ver explicação completa e trilha adaptativa →