# combined immunodeficiency due to partial RAG1 deficiency

> Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia

**Wikidata**: [Q55783701](https://www.wikidata.org/wiki/Q55783701)  
**Source**: https://4ort.xyz/entity/combined-immunodeficiency-due-to-partial-rag1-deficiency


## References

1. Monarch Disease Ontology release 2018-06-29
2. A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection
3. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000166349/Orphanet_231154)
4. UMLS 2023