EBV-induced lymphoproliferative disease due to CD70 deficiency

EBV-induced lymphoproliferative disease due to CD70 deficiency is a rare inherited immune system disorder. CD70 is a protein that helps immune cells — especially T cells and natural killer (NK) cells — respond properly to infections. When the CD70 gene is not working correctly, the immune system cannot control a common virus called Epstein-Barr virus (EBV), also known as the virus that causes mononucleosis or 'mono.' In healthy people, EBV infects most individuals in childhood or early adulthood and then stays dormant, kept in check by the immune system. In people with CD70 deficiency, the immune system fails to control EBV, which can trigger abnormal and dangerous overgrowth of white blood cells called lymphocytes. This overgrowth is called lymphoproliferative disease. The condition can cause swollen lymph nodes, an enlarged spleen and liver, fever, and fatigue. In more serious cases, it can lead to lymphoma (a type of blood cancer), hemophagocytic lymphohistiocytosis (HLH, a life-threatening immune overreaction), or common variable immunodeficiency (CVID), which means the immune system is generally weakened. This disease is also sometimes referred to as CD70 deficiency-associated EBV lymphoproliferative disease or simply CD70 deficiency. Treatment depends on how the disease presents. Some patients need antiviral therapy, immunosuppressive drugs, or chemotherapy for lymphoma. The only potentially curative treatment currently available is a bone marrow transplant (also called hematopoietic stem cell transplantation or HSCT), which replaces the faulty immune system with a healthy one. Early diagnosis is very important because catching the disease before serious complications develop can greatly improve outcomes.

Bring these to your next appointment

• Q1.Should my child be tested for EBV now, and how often should EBV levels be monitored?,Is my child a candidate for a bone marrow transplant, and when would be the best time to do it?,Does my child need IVIG infusions, and how will we know if they are working?,What signs of HLH or lymphoma should I watch for at home, and when should I go to the emergency room?,Should other family members — siblings or parents — be tested for this condition?,Are there any clinical trials or research studies that my child might be eligible for?,What vaccinations are safe for my child, and are there any that must be avoided?

Common questions about EBV-induced lymphoproliferative disease due to CD70 deficiency