Search Ontology:
Human Disease
immunodeficiency 16
- Term ID
- DOID:0111935
- Synonyms
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- 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
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- MIM:615593
- ORDO:431149
- UMLS_CUI:C3810053
- Ontology
- Human Disease ( DOID:0111935 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models