combined immunodeficiency due to STIM1 deficiency
Findings
No curated finding names combined immunodeficiency due to STIM1 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Aform of combined immunodeficiency due to Calcium release activated Ca2+(CRAC) channel dysfunction characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia.
Definition from the Mondo Disease Ontology (MONDO:0013008), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
24 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
- 3 of 3 reported patients
- Autoimmune thrombocytopeniaHPOHP:0001973
- 3 of 3 reported patients
- Hypoplasia of the irisHPOHP:0007676
- 3 of 3 reported patients
- HypotoniaHPOHP:0001252
- 3 of 3 reported patients
- ImmunodeficiencyHPOHP:0002721
- 3 of 3 reported patients
- Kaposi's sarcomaHPOHP:0100726
- 1 of 1 reported patient · Childhood onset
- Recurrent bacterial infectionsHPO
Show the remaining 12
- SplenomegalyHPOHP:0001744
- 2 of 3 reported patients
- Autoimmune hemolytic anemiaHPOHP:0001890
- 1 of 3 reported patients
- Decreased circulating IgA concentrationHPOHP:0002720
- 1 of 3 reported patients
- Decreased circulating IgG concentrationHPOHP:0004315
- 1 of 3 reported patients
- HypoglycemiaHPOHP:0001943
- 1 of 3 reported patients
- Increased circulating IgA concentrationHPOHP:0003261
- 1 of 3 reported patients
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.
- STIM1HGNC:11386
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: combined immunodeficiency due to STIM1 deficiency
- Also called
- CID due to STIM1 deficiencyimmunodeficiency type 10