immunodeficiency 10

Term ID

DOID:0111970

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. https://pubmed.ncbi.nlm.nih.gov/26560041/

References

• MESH:C557827
• OMIM:612783
• ORDO:317430
• UMLS_CUI:C2748557

Ontology

Human Disease   ( DOID:0111970 )