An 8-year-old male presents with recurrent infections. He had recurrent fevers during childhood | Medibuddy
16th February 2024

An 8-year-old male presents with recurrent infections. He had recurrent fevers during childhood

An 8-year-old male presents with recurrent infections. He had recurrent fevers during childhood, with multiple sinusitis, pneumonia, ear infections and meningitis episodes. He suffered from progressive ataxia during his early years with delayed walking and unsteady gait. He currently uses a wheelchair. Examination revealed ocular and facial telangiectasia.

Which of the following gene abnormalities is associated with this condition?

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