# coronin-1A deficiency

> severe combined immunodeficiency that is an actin regulator when mutated results in SCID through inhibition of thymic egress of mature thymocytes into peripheral lymphoid organs

**Wikidata**: [Q18553597](https://www.wikidata.org/wiki/Q18553597)  
**Source**: https://4ort.xyz/entity/coronin-1a-deficiency


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000102879/MONDO_0014168)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)