OBO ID: DOID:0111970
Term Name: immunodeficiency 10 Search Ontology:
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 or compound heterozygous mutation in STIM1 on chromosome 11p15.4. https://pubmed.ncbi.nlm.nih.gov/26560041/
References:
Ontology: Human Disease   (DOID:0111970)
OTHER immunodeficiency 10 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
STIM1 Immunodeficiency 10 612783
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None