combined immunodeficiency due to CRAC channel dysfunction
ORPHA: 169090
Overview
deficiency (see these terms)
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with combined immunodeficiency due to CRAC channel dysfunction, sourced from HPO and Orphanet clinical annotations.
Chronic otitis mediaAmelogenesis imperfectaHypotoniaMeningitisFeverPneumoniaRecurrent bacterial infectionsImmunodeficiencyRecurrent fungal infectionsAutoimmunityMyopathyRecurrent viral infectionsHypoplasia of the irisHypocalcification of dental enamelRecurrent mycobacterial infectionsSepsisAnhidrosisSplenomegalyHepatomegalyLymphadenopathyThrombocytopeniaHemolytic anemiaNeoplasm
Classification & Codes
Orphanet Code
ORPHA:169090combined immunodeficiency due to CRAC channel dysfunction
| Orphanet | ORPHA:169090 |
| Treatments | 0 drug(s) |
| Symptoms on record | 23 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO