OBO ID: DOID:0111972
Term Name: immunodeficiency 19 Search Ontology:
Synonyms:
  • CD3-delta deficiency
  • IMD19
  • SCID T cell-negative, B cell-positive, NK cell-positive
  • severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-positive
Definition: A severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections with a T cell-negative, B cell-positive, natural killer cell-positive immune cell phenotype that has_material_basis_in homozygous or compound heterozygous mutation in CD3D on chromosome 11q23.3. (2)
References:
Ontology: Human Disease   (DOID:0111972)
OTHER immunodeficiency 19 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CD3D Immunodeficiency 19, severe combined 615617
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None