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:
Viral infections such as measles or chickenpox may be lethal.
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