OX40 deficiency
Related gene: TNFRSF4
Inheritance pattern: Autosomal recessive
OX40 deficiency is a rare immunodeficiency that was first uncovered in a young woman with childhood-onset Kaposi’s sarcoma, which is a rare skin cancer that occurs in immunocompromised individuals after infection with human herpesvirus 8. CD4+ T cells appear to be dysfunctional in this disorder, whereas antibody production is still intact.