Search Ontology:
Human Disease

immunodeficiency 16

Term ID
DOID:0111935
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 the TNFRSF4 gene on chromosome 1p36.33. (2)
References
Ontology
Human Disease   ( DOID:0111935 )
Relationships
is a type of
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Genes Involved
Zebrafish Models