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Combined immunodeficiency due to STIM1 deficiency
1 OMIM reference -
1 associated gene
4 connected diseases
No signs/symptoms info
Disease Type of connection
Tubular aggregate myopathy
Combined immunodeficiency due to ORAI1 deficiency
Familial benign chronic pemphigus
Acatalasemia
Synonym(s):
- CID due to STIM1 deficiency
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
STIM1 Q13586605921
No signs/symptoms info available.