The DCLRE1C gene gives your body instructions to make a protein called Artemis, which helps repair DNA and supports the development of infection-fighting immune cells. This gene plays an important role in building healthy B cells and T cells, the white blood cells that help protect you from germs. If the DCLRE1C gene does not work properly, a person may be born with a very weak immune system and have repeated or severe infections. Some people with harmful variants are also more sensitive to radiation used in certain medical tests or treatments.
What is a gene?
Genes are sections of DNA that give your cells instructions for making molecules or guiding processes in the body. Some genes carry the information needed to make proteins, the parts of cells that do much of the work. Other genes mainly regulate when certain processes happen, where they take place, and how active they are. Together, genes affect how the body develops and works, and they can also influence how you respond to food, stress, or medications. To explore this topic more deeply, you can learn more in the LearnHub.
Overview
DCLRE1CGene function
What if the gene works
The DCLRE1C gene helps cells repair broken DNA. This is especially important when the body makes B and T cells, which help fight infections.
Risk
What if the gene does not work
Variants in the DCLRE1C gene most often cause a form of severe combined immunodeficiency, leaving babies prone to repeated infections. Milder to more severe variants can lead to later onset combined immune problems, sometimes with autoimmunity or sensitivity to radiation.
Treatment
What does that mean for your treatment
Pathogenic variants in the DCLRE1C gene usually make treatment plans center on early hematopoietic stem cell transplant. Because this condition causes marked sensitivity to radiation and DNA-damaging chemotherapy, transplant conditioning is often reduced or adjusted, and radiation exposure is avoided when possible.
Conditions associated with DCLRE1C
Gene function
What if the gene works
Your cells use this gene for a careful kind of DNA repair and for building the germ sensing parts of immune cells. It is especially important while T cells and B cells are maturing. When the DCLRE1C gene works properly, DNA ends can be opened, shaped, and rejoined in an orderly way.
The DCLRE1C gene helps your cells repair certain breaks that affect both strands of DNA. Its protein processes damaged DNA ends so the broken pieces can be joined back together in a controlled way.
During some repair steps, DNA ends can form closed tips called hairpins (pinched loops). The DCLRE1C gene helps open these tips so repair can move forward properly.
In developing T cells and B cells, this gene helps mix and match DNA segments to build antigen receptors (the sensors that recognize germs). This is a key part of how the DCLRE1C gene helps the immune system develop.
What is a variant?
A genetic variant is a small difference in the DNA sequence of a gene. These changes are common and help shape normal human diversity, such as differences in appearance, metabolism, or how the body responds to environmental influences. Many variants do not have any noticeable effect and simply reflect natural genetic variation. In some situations, though, a variant can change how a gene functions more substantially and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Variants in the DCLRE1C gene can make the Artemis protein unstable, shortened, or less able to cut and rejoin DNA during immune cell development and DNA repair. Milder changes may leave some protein activity, while more severe variants can greatly reduce or nearly eliminate it. This range helps explain how DCLRE1C gene variants affect protein function and why some people have later or milder immune problems, while others develop earlier, more marked severe combined immunodeficiency.
How variants are linked to conditions
Pathogenic variants in the DCLRE1C gene are best known for causing radiosensitive severe combined immunodeficiency (RS-SCID), and DCLRE1C gene variants linked to SCID are a well-established finding in medical genetics. Babies with this condition often develop early, repeated infections. Other DCLRE1C gene variants can cause related immune conditions, including Omenn syndrome and milder combined immunodeficiency, with symptoms such as ongoing infections, poor growth, rash, or diarrhea.
A variant is not necessarily a diagnosis
Genetic variants are a routine part of human biology and are common across the general population. Most do not have a direct effect on health and simply reflect natural human diversity. For many genes, carrying a variant associated with a condition suggests a possible link rather than a definitive diagnosis, especially when several genes and environmental factors are involved. In some situations, though, a single well-characterized variant in a specific gene is enough to confirm a diagnosis.
Are there things that can increase or change my risk?
For DCLRE1C, risk is mainly set by genetics: a child is affected when they inherit harmful changes in both copies of the gene, so the chance is higher if both parents carry one changed copy. In people living with a DCLRE1C-related immune condition, live vaccines and unnecessary radiation can raise the chance of serious complications.
Inheritance of DCLRE1C variants
DCLRE1C-related conditions are inherited in an autosomal recessive pattern. This means a child usually inherits one DCLRE1C gene variant from each parent, and parents are often healthy carriers. When both parents carry a variant, each pregnancy has a 25% chance of an affected child, a 50% chance of a carrier child, and a 25% chance of a child with no familial variant. In practical terms, how DCLRE1C variants are inherited is the same for sons and daughters because this gene is on chromosome 10, which is not a sex chromosome.
What does my DCLRE1C result mean for my family?
For families with a disease-causing change in the DCLRE1C gene, the pattern is usually recessive, which means parents are often healthy carriers. Brothers and sisters may also be affected or may be carriers, and other close relatives could be carriers as well. This can matter for future pregnancies and for relatives who are planning children.
Genetic information
Genetic testing
How you find out about variants
Genetic testing for DCLRE1C variants uses a blood sample, saliva sample, or cheek swab to read the DNA sequence of the DCLRE1C gene and look for variants. Results may show no variant, one variant, or two variants, helping clarify whether a person is a carrier or has a confirmed inherited condition.
When should I consider getting a genetic test?
Consider DCLRE1C testing if a baby has a newborn screen suggesting a severe immune problem, repeated serious infections, or very low levels of infection-fighting blood cells. It can also help when severe immune problems run in the family, there were early infant deaths from infections, or a relative is known to carry a DCLRE1C change.
A genetic result is only one part of your health story
A genetic result can be informative, but what it can tell you varies depending on the condition and the kind of variant involved. Over time, many factors, including lifestyle, environment, age, and medical history, also influence how the body functions. In some conditions, especially those shaped by many genes, genetic information offers context rather than certainty and is most useful when considered with other parts of care. In other situations, a genetic result may give a clear answer. In areas like medication response, genetic results can also help put individual experiences into context.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can affect how your body responds to some medicines, so the same treatment may work differently from one person to another. Small differences in genes can change how quickly a drug is processed, how strongly it works, or how sensitive you are to side effects. This kind of variation is common and can partly explain why a medicine helps a lot for one person, helps less for another, or feels harder to tolerate.
What is Pharmacogenetics?
Pharmacogenetics looks at how genetic differences shape a person’s response to medicines. It examines relationships between genes and drugs to help explain why the same treatment can work differently from one person to another. For many medications, genes can affect both how strongly a drug works and how the body processes it. This information can support more informed, individualized treatment decisions. More detail on this topic is available in the LearnHub.
Drugs influenced by the DCLRE1C gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in guiding everyday medication choices, so general health or medicine concerns are best discussed with your doctor. DCLRE1C has been studied because people living with DCLRE1C-related immune conditions can be unusually sensitive to treatments that damage DNA, including radiation and some cancer medicines, so this is worth raising before such treatment starts.
History
DCLRE1C entered the medical literature through children with an unusual form of severe combined immunodeficiency, or SCID, who also showed marked sensitivity to radiation. In recent decades, awareness of this gene’s role has grown. Researchers linked these cases to the Artemis protein, helping explain why some families had a pattern of severe infections that did not fit earlier SCID categories. This discovery connected immune system failure with problems repairing damaged DNA, which was an important step in genetics and immunology. Over time, descriptions became more precise. Today, DCLRE1C is recognized as a key part of the history of diagnosing radiosensitive SCID and related inherited conditions.