# autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency

> somatic mutation in the CTLA4 gene resulting in only a single functional gene. Haploinsufficiency for CTLA4 is associated with autoimmune lymphoproliferative syndrome, type V

**Wikidata**: [Q55784850](https://www.wikidata.org/wiki/Q55784850)  
**Source**: https://4ort.xyz/entity/autoimmune-lymphoproliferative-syndrome-due-to-ctla4-haploinsuffiency


## References

1. Monarch Disease Ontology release 2018-06-29
2. Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations
3. Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4
4. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e79675bd-3eef-4925-b4ef-3b7c48734f30-2021-01-26T171103.720Z)
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e79675bd-3eef-4925-b4ef-3b7c48734f30-2021-03-16T133941.848Z)
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e79675bd-3eef-4925-b4ef-3b7c48734f30-2021-04-28T163716.269Z)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000163599/MONDO_0014493)