The CD27 gene helps immune cells communicate and build a lasting defense after infections. This gene plays an important role in helping certain white blood cells activate and make immune memory. If the CD27 gene does not work properly, some people have repeated infections, trouble controlling Epstein-Barr virus, low antibody levels, or enlarged lymph nodes, and some may develop lymphoma. Pathogenic variants can cause CD27 deficiency, a rare inherited immune condition.
What is a gene?
Genes are stretches of DNA that give your cells instructions for making molecules or managing processes in the body. Some genes hold the code for proteins, which do much of the cell’s work. Others mainly regulate when certain processes happen, where they take place, and how strongly they run. As a whole, genes affect how the body develops and functions, and they can also shape how you respond to food, stress, or medications. For a closer look at this topic, you can find more in the LearnHub.
Overview
CD27Gene function
What if the gene works
The CD27 gene helps key immune cells communicate, survive, and form immune memory. This supports your body’s response to infections over time.
Risk
What if the gene does not work
Variants in the CD27 gene can cause an immune condition with recurrent infections, low antibody levels, and poor control of Epstein-Barr virus. Milder or more severe variants can influence age at onset and which features appear.
Treatment
What does that mean for your treatment
For pathogenic or loss-of-function variants in the CD27 gene, no CD27-specific treatment or drug choice is currently established. Care is usually guided by the person’s immune and infection-related problems rather than by the variant itself. In research, the CD27 pathway is being studied as an immune target and biomarker, especially in cancer and antiviral immune responses.
Conditions associated with CD27
Gene function
What if the gene works
Your immune system uses the CD27 gene to help white blood cells communicate during infections and after vaccines. Its protein sits on the surface of several immune cells and responds to a partner signal called CD70. This is part of how the CD27 gene helps T cells and B cells work together in a coordinated immune response.
The CD27 gene makes a surface protein that receives an activation signal from CD70 on nearby immune cells. This contact helps immune cells coordinate their response to a germ.
CD27 gives T cells an extra activation signal after they recognize a germ. It helps them expand, stay active, and build a stronger defense.
This gene supports the formation and survival of memory T cells, which are cells that remember past infections. That memory can help your body respond more effectively the next time it meets the same germ.
CD27 also helps B cells mature into cells that make antibodies. These antibodies can recognize specific germs and support longer lasting immune protection.
What is a variant?
A genetic variant is a minor change in the DNA sequence within a gene. These changes are common and are part of normal human diversity, including differences in appearance, metabolism, or the way the body responds to environmental influences. Many variants do not have any noticeable effect and simply represent natural genetic variation. In some situations, though, a variant can change how a gene functions more significantly and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Variants in the CD27 gene can reduce how much CD27 protein reaches the cell surface or how well it binds its partner, CD70, which weakens immune cell signaling. This is why CD27 gene variants and immune cell signaling changes can vary from person to person. Milder variants may leave some signaling in place, while more severe loss of function variants can stop the protein from being made or from working at the cell surface. Variants that remove more CD27 activity are often linked to earlier or more marked immune problems.
How variants are linked to conditions
Pathogenic variants in the CD27 gene cause CD27 deficiency, a rare inherited immune condition. People with CD27 gene variants linked to this diagnosis may have repeated infections, low antibody levels, and trouble controlling Epstein-Barr virus, often called EBV. This can be associated with ongoing swollen glands, an enlarged liver or spleen, and in some people a higher chance of lymphoma.
A variant is not necessarily a diagnosis
Genetic variants are common across the general population and are a normal feature of human biology. Most do not directly affect health and simply contribute to natural human diversity. For many genes, having a variant associated with a condition points to a possible link rather than a certain diagnosis, particularly when several genes and environmental influences play a role. In some situations, though, one well-characterized variant in a particular gene is enough to confirm a diagnosis.
Are there things that can increase or change my risk?
For CD27, risk is mainly shaped by inherited gene changes, especially when both copies of the gene are affected. In families with a known CD27-related condition, close relatives can have a higher chance of carrying the same change. Exposure to Epstein-Barr virus may influence whether immune problems appear and how serious they become.
Inheritance of CD27 variants
CD27 gene inheritance is usually autosomal recessive for the well-established conditions linked to this gene. This means a child inherits one altered copy of the CD27 gene from each parent. Parents who carry one variant typically do not have the condition themselves, but with each pregnancy they have a 25% chance of having an affected child, a 50% chance of having a child who is a carrier, and a 25% chance of having a child with two usual copies of the gene. Sons and daughters are affected equally because the CD27 gene is on an autosome.
What does my CD27 result mean for my family?
For the immune condition linked to the CD27 gene, the usual pattern is recessive, which means close relatives could be carriers even if they feel completely well. Brothers and sisters may also have the same condition or carry the family’s gene change, so the result can matter for siblings and future children in the family.
Genetic information
Genetic testing
How you find out about variants
To look for changes in the CD27 gene, doctors use CD27 genetic testing for inherited immune problems on a blood or saliva sample. A lab reads the DNA sequence and compares it with the usual sequence to find variants, then reports whether a change is clearly linked to disease, likely benign, or still uncertain.
When should I consider getting a genetic test?
Testing for CD27 may be worth discussing if someone has had unusually severe or repeated Epstein-Barr virus infections, the virus that causes mono, unexplained low antibody levels, or certain blood cancers or immune problems, especially starting in childhood. It can also help when these problems run in a family.
A genetic result is only one part of your health story
A genetic result can provide useful insight, but what it shows depends on the condition and the kind of variant involved. How the body works over time is also shaped by factors such as lifestyle, environment, age, and medical history. In some conditions, especially those influenced by many genes, genetic information provides context rather than certainty and is best considered alongside other parts of care. In other situations, a genetic result may offer a clear answer. In areas like medication response, genetic results can help put individual experiences into context.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can affect how people respond to medicines. Small differences in DNA can change how the body breaks down a drug, moves it through the body, or responds to its effects. This helps explain why the same treatment works well for one person but less well for another, or why some people are more sensitive to side effects. These differences are common and are one part of the broader picture, along with age, other health conditions, and other medicines.
What is Pharmacogenetics?
Pharmacogenetics examines how genetic differences affect the way medications work. It studies links between genes and drugs to understand why the same treatment can work differently from one person to another. For many medicines, genes influence how the body processes a drug or how strong its effects are. This information can support more informed and more individualized treatment decisions. More detailed information on this topic is available in the LearnHub.
Drugs influenced by the CD27 gene
When should I seek medical advice?
There isn't yet a broadly confirmed role for this gene in predicting how medicines will work, so concerns about symptoms, treatment choices, or medication side effects are best discussed with your doctor.