combined immunodeficiency due to ORAI1 deficiency
MeSH: C557826ORPHA: 317428
Overview
deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Classification & Codes
MeSH Code
C557826Orphanet Code
ORPHA:317428combined immunodeficiency due to ORAI1 deficiency
| MeSH | C557826 |
| Orphanet | ORPHA:317428 |
| Treatments | 0 drug(s) |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO