Children - Genetic 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.

In some immune system disorders, the immune system can't fight off infections. In other disorders, it 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, and 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:

  • 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

  • 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

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

  • Trouble growing or gaining weight as an infant


Complications of primary immune deficiency and genetic immune disorders include:

  • Long-term or severe infections

  • Delayed development

  • Death


To diagnose genetic immune disorders, health care providers:

  • Review your personal and family medical history

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

  • Assess the response to certain vaccines, such as pneumonia or pneumococcal vaccine

  • Assess the response to skin tests, such as tetanus, a bacteria, and candida, a fungus


Treatment may include:

  • 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.

  • Preventing infection. People who have immune disorders must work hard to avoid infection. Basic hygiene, such as hand washing, is extremely 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.

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