OBO ID: DOID:0111938
Term Name: immunodeficiency 24 Search Ontology:
Synonyms:
  • IMD24
  • SCID due to CTPS1 deficiency
  • severe combined immunodeficiency due to CTPS1 deficiency
Definition: A severe combined immunodeficiency characterized by impaired proliferation of activated T and B cells in response to antigen receptor-mediated activation that has_material_basis_in homozygous or compound heterozygous mutation in CTPS1 on chromosome 1p34.2. https://pubmed.ncbi.nlm.nih.gov/24870241/
References:
Ontology: Human Disease   (DOID:0111938)
OTHER immunodeficiency 24 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CTPS1 Immunodeficiency 24 615897
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None