FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term immunodeficiency 16 ID (Ontology) DOID:0111935 (Human Disease)
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.
Also Known As "combined immunodeficiency due to OX40 deficiency" ; "combined immunodeficiency with childhood-onset Kaposi sarcoma" ; "combined immunodeficiency with impaired immunity to HHV-8" (for all, see Synonyms field below)
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autosomal genetic disease
 |__autosomal recessive disease__________________
combined immunodeficiency                        |
 |__combined T cell and B cell immunodeficiency__|
                                                 immunodeficiency 16
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Is a autosomal recessive disease
combined T cell and B cell immunodeficiency
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Synonyms
  • "combined immunodeficiency due to OX40 deficiency" EXACT
    "combined immunodeficiency with childhood-onset Kaposi sarcoma" EXACT
    "combined immunodeficiency with impaired immunity to HHV-8" EXACT
    "combined immunodeficiency with impaired immunity to human herpes virus 8" EXACT
    "IMD16" EXACT OMO:0003012
    "OX40 deficiency" EXACT
Secondary IDs
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MIM:615593
ORDO:431149
UMLS_CUI:C3810053