Genetics and Immune Disorders

Your immune system is made up of a large network of cells, tissues, and organs. They work together to fight off infections and other harmful substances.

But the immune system doesn’t always work the way it should.

Illustration of the immune system
The Immune System – Click to Enlarge

Some disorders make the immune system unable to fight off infections. In other disorders, the immune system actually attacks the body’s cells or organs the same way it would attack an infection. This is what happens in autoimmune disorders like lupus and rheumatoid arthritis.

Immune disorders and genes

Genes are the building blocks of human growth and development. They determine many characteristics, like hair and eye color. Genes also affect the way the immune system functions or how it responds to threats. Primary immunodeficiency disorders are present at birth. They are inherited, which means they are related to genes passed from one generation to another. Some immune disorders are diagnosed at or shortly after birth. Other immune disorders may not be diagnosed until later in childhood or early adulthood.

Researchers continue to learn how genes influence immune disorders. For example, one genetic defect may block certain cells defending the body. Another defect might prevent the removal of toxic chemicals from the body.

Some signs and symptoms of immune disorders

Symptoms of an immune disorder include:

  • Autoimmune disease symptoms, such as aching joints, tissue destruction, and inflammation

  • Difficulty fighting infections or infections that last a long time. For example:

    • Taking antibiotics for more than one or two months with no success

    • Having infections that other people fight off easily, such as fungal infections of the mouth or skin

  • Frequent, severe infections. For example, someone with a primary immune deficiency may have:

    • Many ear infections in a year

    • More than one lung, sinus, blood, bone, or deep skin infection in a year

  • Trouble growing or gaining weight as an infant


Complications of primary immune deficiency and genetic immune disorders include:

  • Death

  • Delayed development

  • Long-term or severe infections


To diagnose genetic immune disorders, your healthcare providers should do the following:

  • Check your response to certain vaccines, such as pneumonia or pneumococcal vaccine

  • Check your response to skin tests, such as tetanus, bacteria, and the fungus candida

  • Order blood tests, including tests of immunoglobulin (antibody) levels

  • Review your personal and family medical history


Treatment may include:

  • Preventing infection. People who have immune disorders must work hard to avoid infection. Basic hygiene, such as hand washing, is very important. But it is also important to limit contact with crowds or people who have colds and illnesses. Children with specific immune disorders should not get live virus vaccines, which can cause sickness.

  • Long-term follow-up. Immune disorders mean an ongoing risk of infection. Work with your medical team to keep you as healthy as possible.

  • Treating existing infections. Antibiotics or antifungal treatments may be needed to treat the current infection. With severe infections, hospitalization may be needed.

  • Treating the immune deficiency. Treatment depends on the immune disorder. Treatments may include bone marrow transplants, enzyme or antibody replacement therapy.

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