immunodeficiency 16

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

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.

Signs and symptoms

• Kaposi's sarcoma
• Splenomegaly
• Pancytopenia
• Coombs-positive hemolytic anemia
• Immunodeficiency

Also known as: IMD16; OX40 deficiency; combined immunodeficiency due to OX40 deficiency; combined immunodeficiency with childhood-onset Kaposi sarcoma; combined immunodeficiency with impaired immunity to HHV-8