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immunodeficiency 10
Summary
- Synonym
-
- CID due to STIM1 deficiency
- IMD10
- STIM1 deficiency
- combined immunodeficiency due to STIM1 deficiency
- immune dysfunction with T-cell inactivation due to calcium entry defect 2
- Definition
- A T cell and NK cell immunodeficiency characterized by onset in childhood of recurrent infections due to defective T- and NK-cell function that has_material_basis_in homozygous mutation in the STIM1 gene on chromosome 11p15.4.
- Super Class
- T cell and NK cell immunodeficiency autosomal recessive disease
External Links
- Disease Ontology
- DOID:0111970
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
Related Genes
