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Details of STIM1 gene in Homo sapiens
Disease |
|---|
| Disease |
OMIM id |
| Immune dysfunction with T-cell inactivation due to calcium entry defect 2 (IDTICED2) [MIM:612783]: An immune disorder characterized by recurrent infections, impaired T-cell activation and proliferative response, decreased T-cell production of cytokines, lymphadenopathy, and normal lymphocytes counts and serum immunoglobulin levels. Additional features include thrombocytopenia, autoimmune hemolytic anemia, non-progressive myopathy, partial iris hypoplasia, hepatosplenomegaly and defective enamel dentition. Note=The disease is caused by mutations affecting the gene represented in this entry. |
612783 |
