Overview
Combined immunodeficiency due to OX40 deficiency is a very rare inherited disease that weakens the immune system. It is caused by changes (mutations) in the TNFRSF4 gene, which provides instructions for making a protein called OX40. OX40 is found on the surface of certain immune cells called T cells. It acts like a signal booster that helps T cells survive, multiply, and remember past infections. Without working OX40, the immune system cannot mount a strong enough response to fight off certain infections, especially viruses. People with this condition tend to get severe or repeated infections that a healthy immune system would normally handle easily. Herpesvirus infections — such as those caused by Epstein-Barr virus (EBV) or cytomegalovirus (CMV) — can be especially dangerous. The condition may also be called OX40 deficiency or TNFRSF4 deficiency. It belongs to a broader group of diseases called combined immunodeficiencies, meaning both T cells and B cells of the immune system are affected. Treatment focuses on preventing and managing infections. This may include antiviral medicines, antibiotics to prevent bacterial infections, and immunoglobulin replacement therapy to boost antibody levels. In some cases, a stem cell transplant may be considered. Because this disease is extremely rare, treatment plans are highly individualized and managed by immune system specialists.
Also known as:
Key symptoms:
Repeated or severe viral infectionsSevere Epstein-Barr virus (EBV) infectionsCytomegalovirus (CMV) infections that are hard to controlRecurring respiratory infections such as pneumoniaEnlarged lymph nodesEnlarged spleen or liverFailure to thrive or poor weight gain in childrenUnusual or life-threatening reactions to live vaccinesLow levels of protective antibodies in the bloodReduced number or function of T cells
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Combined immunodeficiency due to OX40 deficiency.
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Specialists
View all specialists →No specialists are currently listed for Combined immunodeficiency due to OX40 deficiency.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Combined immunodeficiency due to OX40 deficiency.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific tests do we need to confirm the diagnosis and understand how severe the immune deficiency is?,Should my child's siblings be tested for this condition?,Is my child a candidate for a stem cell transplant, and what would that process involve?,What infections should I be most worried about, and what is the plan if my child gets seriously ill?,Are there any vaccines that are safe for my child, and which ones must be avoided?,How often will my child need immunoglobulin infusions, and can these be done at home?,Are there any clinical trials or research studies we should consider joining?
Common questions about Combined immunodeficiency due to OX40 deficiency
What is Combined immunodeficiency due to OX40 deficiency?
Combined immunodeficiency due to OX40 deficiency is a very rare inherited disease that weakens the immune system. It is caused by changes (mutations) in the TNFRSF4 gene, which provides instructions for making a protein called OX40. OX40 is found on the surface of certain immune cells called T cells. It acts like a signal booster that helps T cells survive, multiply, and remember past infections. Without working OX40, the immune system cannot mount a strong enough response to fight off certain infections, especially viruses. People with this condition tend to get severe or repeated infections
How is Combined immunodeficiency due to OX40 deficiency inherited?
Combined immunodeficiency due to OX40 deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Combined immunodeficiency due to OX40 deficiency typically begin?
Typical onset of Combined immunodeficiency due to OX40 deficiency is childhood. Age of onset can vary across affected individuals.