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

• OMIM:615593
• ORDO:431149
• UMLS_CUI:C3810053

Ontology

Human Disease   ( DOID:0111935 )