clinical features

Last reviewed 01/2018

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.