combined immunodeficiency due to ORAI1 deficiency
Findings
No curated finding names combined immunodeficiency due to ORAI1 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A form of combined immunodeficiency due to Calcium release activated Ca2+ (CRAC) channel dysfunction characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.
Definition from the Mondo Disease Ontology (MONDO:0013007), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Congenital onset
HPO, annotations 2026-09-02
Features
15 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.
- Ectodermal dysplasiaHPOHP:0000968
- 2 of 2 reported patients
- HypotoniaHPOHP:0001252
- 6 of 6 reported patients
- Recurrent infectionsHPOHP:0002719
- 5 of 6 reported patients
- Failure to thriveHPOHP:0001508
- 4 of 6 reported patients
- Chronic diarrheaHPOHP:0002028
- 3 of 6 reported patients
- Hypoplasia of the thymusHPOHP:0000778
- 3 of 6 reported patients
- Amelogenesis imperfectaHPOHP:0000705
Show the remaining 3
- Decreased circulating IgG concentrationHPOHP:0004315
- 0 of 5 reported patients
- Decreased total lymphocyte countHPOHP:0001888
- 0 of 6 reported patients
- ImmunodeficiencyHPOHP:0002721
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ORAI1HGNC:25896
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: combined immunodeficiency due to ORAI1 deficiency
- Also called
- CID due to ORAI1 deficiencyimmunodeficiency type 9