OBO ID: DOID:0111943
Term Name: immunodeficiency 48 Search Ontology:
Synonyms:
  • combined immunodeficiency due to ZAP70 deficiency
  • IMD48
  • zeta-associated-protein 70 deficiency
Definition: A T cell deficiency characterized by a selective T cell defect where circulating T cells exclusively express CD4, CD3, and T-cell receptor-alpha/beta and not CD8 on their surfaces that has_material_basis_in homozygous or compound heterozygous mutation in ZAP70 on chromosome 2q11.2. https://pubmed.ncbi.nlm.nih.gov/2511270/
References:
Ontology: Human Disease   (DOID:0111943)
OTHER immunodeficiency 48 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ZAP70 Immunodeficiency 48 269840
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None