FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term immunodeficiency 10 ID (Ontology) DOID:0111970 (Human Disease)
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.
Also Known As "CID due to STIM1 deficiency" ; "combined immunodeficiency due to STIM1 deficiency" ; "IMD10" (for all, see Synonyms field below)
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 Genes
 immunodeficiency 10       1
 for disease ribbon | immunodeficiency 10       1
 model of | immunodeficiency 10       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__________
primary immunodeficiency disease         |
 |__T cell and NK cell immunodeficiency__|
                                         immunodeficiency 10  1 rec.
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Is a autosomal recessive disease
T cell and NK cell immunodeficiency
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Synonyms
  • "CID due to STIM1 deficiency" EXACT
    "combined immunodeficiency due to STIM1 deficiency" EXACT
    "IMD10" EXACT OMO:0003012
    "immune dysfunction with T-cell inactivation due to calcium entry defect 2" EXACT
    "STIM1 deficiency" EXACT
Secondary IDs
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MESH:C557827
MIM:612783
ORDO:317430
UMLS_CUI:C2748557