Term Name: | adenosine deaminase deficiency |
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Synonyms: | ADA |
Definition: | A severe combined immunodeficiency that is caused by a defective enzyme, adenosine deaminase (ADA), necessary for the breakdown of purines. Lack of ADA causes accumulation of dATP. |
Ontology: | Human Disease [DOID:5810] ( DOID:5810 ) |