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Clinical features

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

Defective lymphocytic function predisposes to increased susceptibility to infection which is usually detected by 3 to 6 months of age. Death within 2 years is common if untreated by marrow transplantation; transplant survivors are at increased risk of a variety of malignancies.

Both sexes are affected. Failure to thrive may be a non-specific presentation.

Common features include:

  • watery diarrhoea - associated with Salmonella and enteropathic E.coli
  • pulmonary infections - associated with Pseudomonas and Pneumocystis carnii
  • candidiasis - often around the mouth

Viral infections such as measles or chickenpox may be lethal.

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