Term Name: | immunodeficiency 10 |
---|---|
Synonyms: | CID due to STIM1 deficiency, combined immunodeficiency due to STIM1 deficiency, IMD10, immune dysfunction with T-cell inactivation due to calcium entry defect 2, STIM1 deficiency |
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. |
Ontology: | Human Disease [DOID:0111970] ( DOID:0111970 ) |