combined immunodeficiency due to CRAC channel dysfunction
Findings
No curated finding names combined immunodeficiency due to CRAC channel dysfunction yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0015695), read 2026-09-29. CC BY 4.0.
Features
23 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Amelogenesis imperfectaHPOHP:0000705
- Very frequent (80% to 99% of cases)
- AutoimmunityHPOHP:0002960
- Very frequent (80% to 99% of cases)
- Chronic otitis mediaHPOHP:0000389
- Very frequent (80% to 99% of cases)
- FeverHPOHP:0001945
- Very frequent (80% to 99% of cases)
- Hypocalcification of dental enamelHPOHP:0011084
- Very frequent (80% to 99% of cases)
- Hypoplasia of the irisHPOHP:0007676
- Very frequent (80% to 99% of cases)
- Hypotonia
Show the remaining 11
- Recurrent fungal infectionsHPOHP:0002841
- Very frequent (80% to 99% of cases)
- Recurrent mycobacterial infectionsHPOHP:0011274
- Very frequent (80% to 99% of cases)
- Recurrent viral infectionsHPOHP:0004429
- Very frequent (80% to 99% of cases)
- SepsisHPOHP:0100806
- Very frequent (80% to 99% of cases)
- AnhidrosisHPOHP:0000970
- Frequent (30% to 79% of cases)
- HepatomegalyHPOHP:0002240
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: combined immunodeficiency due to CRAC channel dysfunction
- Also called
- immune dysfunction due to T-cell inactivation due to calcium entry defect