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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.

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Learn more about combined immune deficiencies.

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Adapted from the IDF Patient & Family Handbook for Primary Immunodeficiency Diseases, Sixth Edition 
Copyright ©2019 by Immune Deficiency Foundation, USA