CID due to STIM1 deficiencyimmune dysfunction with T-cell inactivation due to calcium entry defect 2IMD10STIM1 deficiencycombined immunodeficiency due to STIM1 deficiency
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
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 or compound heterozygous mutation in STIM1 on chromosome 11p15.4.