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.
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
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
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:
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.