Human genes for immunodeficiency 16
Immunodeficiency 16 [DOID:0111935]
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.
Synonyms: immunodeficiency 16, DOID:0111935, IMD16, OX40 deficiency, combined immunodeficiency due to OX40 deficiency ...