| Metadata | |
|---|---|
| ID | DOID:0111970 |
| Name | immunodeficiency 10 |
| 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. https://pubmed.ncbi.nlm.nih.gov/26560041/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
CID due to STIM1 deficiency [EXACT] combined immunodeficiency due to STIM1 deficiency [EXACT] IMD10 [EXACT] immune dysfunction with T-cell inactivation due to calcium entry defect 2 [EXACT] STIM1 deficiency [EXACT] |
| Parent Relationships |