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Summary Literature (0)
DOID:0111970 - immunodeficiency 10

Disease Ontology 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.

Synonyms: CID due to STIM1 deficiency, IMD10, STIM1 deficiency, combined immunodeficiency due to STIM1 deficiency, immune dysfunction with T-cell inactivation due to calcium entry defect 2,

Xenbase Genes : stim1



Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): T cell and NK cell immunodeficiency (is_a), autosomal recessive disease (is_a)