Search Ontology:
Human Disease

immunodeficiency 48

Term ID
DOID:0111943
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 the ZAP70 gene on chromosome 2q11.2. https://pubmed.ncbi.nlm.nih.gov/2511270/
References
Ontology
Human Disease   ( DOID:0111943 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models