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Immunology 5

A 6-year-old boy presents with his mother to the pediatrician for evaluation of progressive unsteadiness, which his mother first noticed when the patient was a toddler. She reports that his trunk has always been unstable and that he seems to wobble when he walks. Past medical history is significant for recurrent sinopulmonary infections. He does not take any medications. Vital signs are within normal limits. Physical examination is significant for an ataxic gait and telangiectasias on the bilateral conjunctiva. Results of a complete blood count indicate mild lymphopenia and no other abnormalities. A mutation in which of the following genes is most likely responsible for this patient’s presentation?
  • A) ATM gene mutation
  • B) BTK gene mutation
  • C) LYST gene mutation
  • D) STAT3 gene mutation
  • E) WAS gene mutation


Alexandra Conway


Dr. Ted O'Connell

Last updated

Jun 06, 2024

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