OBO ID: DOID:0111935
Term Name: immunodeficiency 16 Search Ontology:
Synonyms:
  • combined immunodeficiency due to OX40 deficiency
  • combined immunodeficiency with childhood-onset Kaposi sarcoma
  • combined immunodeficiency with impaired immunity to HHV-8
  • combined immunodeficiency with impaired immunity to human herpes virus 8
  • IMD16
  • OX40 deficiency
Definition: A combined T cell and B cell immunodeficiency characterized by classic Kaposi sarcoma of childhood, poor T-cell recall immune responses, and decrease in the proportion of circulating memory B cells that has_material_basis_in homozygous or compound heterozygous mutation in TNFRSF4 on chromosome 1p36.33. (2)
References:
Ontology: Human Disease   (DOID:0111935)
OTHER immunodeficiency 16 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TNFRSF4 ?Immunodeficiency 16 615593
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None