# adenosine deaminase deficiency

> 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

**Wikidata**: [Q1055374](https://www.wikidata.org/wiki/Q1055374)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Adenosine_deaminase_deficiency)  
**Source**: https://4ort.xyz/entity/adenosine-deaminase-deficiency


## References

1. Disease Ontology
2. Freebase Data Dumps. 2013
3. One adenosine deaminase allele in a patient with severe combined immunodeficiency contains a point mutation abolishing enzyme activity
4. Adenosine deaminase (ADA) deficiency in cells derived from humans with severe combined immunodeficiency is due to an aberration of the ADA protein.
5. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)
6. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)