Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0111970 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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