Term Name: | immunodeficiency 16 |
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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. |
Ontology: | Human Disease [DOID:0111935] ( DOID:0111935 ) |