combined immunodeficiency due to CRAC channel dysfunction
Go to external page http://purl.obolibrary.org/obo/MONDO_0015695
A form of combined immunodeficiency characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. It comprises two sub-types that are due to mutations in the ORAI1 and STIM1 genes: CID due to ORAI1 deficiency and CID due to STIM1 deficiency. [ https://orcid.org/0000-0001-5208-3432 Orphanet:169090 ]
Synonyms: immune dysfunction due to T-cell inactivation due to calcium entry defect
Term information
- GARD:17048 (Orphanet:169090)
- Orphanet:169090 (MONDO:equivalentTo)
- SCTID:717811007 (MONDO:equivalentTo)
gard_rare, ordo_disease, rare, nord_rare, orphanet_rare
https://github.com/monarch-initiative/mondo/issues/6877
https://github.com/monarch-initiative/mondo/issues/6747