Abstract:Adenosine deaminase (ADA) deficiency is a form of severe combined immunodeficiency. Aberrant mutations in the ADA gene result in loss of ADA activity and the toxic accumulation of metabolites that damage both immune and non-immune organs. While patients with complete ADA deficiency present during infancy with failure to thrive, recurrent bacterial, viral and fungal infections, those with incomplete (partial) deficiency may present at a later age with milder symptoms associated with reduced T, B, and NK cell su… Show more
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