Overview
Combined immunodeficiency due to CD27 deficiency is a rare inherited immune system disorder caused by mutations in the CD27 gene (also known as TNFRSF7). CD27 is a protein found on the surface of certain immune cells, especially T cells and B cells, and it plays an important role in helping these cells communicate and fight infections. When CD27 is missing or not working properly, the immune system cannot defend the body effectively against infections, particularly those caused by the Epstein-Barr virus (EBV). Patients with this condition often develop severe or chronic EBV infections, which can lead to serious complications such as hemophagocytic lymphohistiocytosis (HLH) — a life-threatening condition where the immune system becomes overactive and damages the body's own tissues. Patients may also develop lymphoma (a type of blood cancer), low levels of antibodies in the blood (hypogammaglobulinemia), and recurrent infections. Symptoms typically begin in childhood. Treatment focuses on managing infections, replacing missing antibodies through immunoglobulin therapy, and monitoring for complications like lymphoma. In severe cases, a bone marrow transplant (also called hematopoietic stem cell transplant) may be considered as a potentially curative option. Early diagnosis and close monitoring by an immunology specialist are essential for improving outcomes.
Key symptoms:
Frequent or severe infectionsChronic Epstein-Barr virus (EBV) infectionSwollen lymph nodesEnlarged spleenEnlarged liverLow levels of antibodies in the bloodFever that keeps coming backFatigue and low energyHemophagocytic lymphohistiocytosis (overactive immune response causing organ damage)Lymphoma (a type of blood cancer)Poor weight gain or failure to thriveSkin rashesLow blood cell counts
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 CD27 deficiency.
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Specialists
View all specialists →No specialists are currently listed for Combined immunodeficiency due to CD27 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 CD27 deficiency.
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Caregiver Resources
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Family & Caregiver Grants
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Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.How severe is my child's immune deficiency, and what specific complications should I watch for?,Will my child need immunoglobulin replacement therapy, and how often will it be given?,Is a bone marrow transplant recommended in our case, and what are the risks and benefits?,How should we manage exposure to Epstein-Barr virus and other infections?,Are there any vaccines my child should avoid?,What are the signs of hemophagocytic lymphohistiocytosis, and what should I do if I suspect it?,Should other family members be tested for this genetic condition?
Common questions about Combined immunodeficiency due to CD27 deficiency
What is Combined immunodeficiency due to CD27 deficiency?
Combined immunodeficiency due to CD27 deficiency is a rare inherited immune system disorder caused by mutations in the CD27 gene (also known as TNFRSF7). CD27 is a protein found on the surface of certain immune cells, especially T cells and B cells, and it plays an important role in helping these cells communicate and fight infections. When CD27 is missing or not working properly, the immune system cannot defend the body effectively against infections, particularly those caused by the Epstein-Barr virus (EBV). Patients with this condition often develop severe or chronic EBV infections, which
How is Combined immunodeficiency due to CD27 deficiency inherited?
Combined immunodeficiency due to CD27 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 CD27 deficiency typically begin?
Typical onset of Combined immunodeficiency due to CD27 deficiency is childhood. Age of onset can vary across affected individuals.