# severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive

> severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive and that has material basis in mutation in the RAG1 and RAG2 genes on chromosome 11p12

**Wikidata**: [Q30990082](https://www.wikidata.org/wiki/Q30990082)  
**Source**: https://4ort.xyz/entity/severe-combined-immunodeficiency-autosomal-recessive-t-cell-negative-b-cell-negative-nk-cell-positive


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000166349/MONDO_0011086)
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000175097/MONDO_0011086)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)
7. UMLS 2023