# caspase-8 deficiency

> autoimmune lymphoproliferative syndrome that has material basis in homozygous mutation in the CASP8 gene on chromosome 2q33

**Wikidata**: [Q24975366](https://www.wikidata.org/wiki/Q24975366)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Caspase-8_deficiency)  
**Source**: https://4ort.xyz/entity/caspase-8-deficiency


## References

1. Disease Ontology
2. UniProt
3. Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000064012/MONDO_0011804)
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000064012/Orphanet_275517)
6. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)
7. Monarch Disease Ontology release 2018-06-29