combined immunodeficiency due to STIM1 deficiency
MeSH: C557827ORPHA: 317430
Overview
deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Classification & Codes
MeSH Code
C557827Orphanet Code
ORPHA:317430combined immunodeficiency due to STIM1 deficiency
| MeSH | C557827 |
| Orphanet | ORPHA:317430 |
| Treatments | 0 drug(s) |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO