Ataxia telangiectasia 

Ataxia telangiectasia is an autosomal recessive disorder caused by a defect in the ATM gene which encodes for DNA repair enzymes. It is one of the inherited combined immunodeficiency disorders. It typically presents in early childhood with abnormal movements.

Features

  • cerebellar ataxia
  • telangiectasia (spider angiomas)
  • IgA deficiency resulting in recurrent chest infections
  • 10% risk of developing malignancy, lymphoma or leukaemia, but also non-lymphoid tumours

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