# Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation

> human disease

**Wikidata**: [Q55784399](https://www.wikidata.org/wiki/Q55784399)  
**Source**: https://4ort.xyz/entity/autoinflammation-plcg2-associated-antibody-deficiency-immune-dysregulation


## References

1. Monarch Disease Ontology release 2018-06-29
2. A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency
3. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000197943/MONDO_0013944)