Overview

Primary immunodeficiency disorders — also called primary immune disorders or primary immunodeficiency — weaken the immune system, allowing infections and other health problems to occur more easily.

Many people with primary immunodeficiency are born missing some of the body's immune defenses, which leaves them more susceptible to germs that can cause infections.

Some forms of primary immunodeficiency are so mild they may go unnoticed for years. Other types are severe enough that they're discovered almost as soon as an affected baby is born.

Treatments can boost the immune system for many types of primary immunodeficiency disorders. Most people with the condition lead relatively normal, productive lives.

Symptoms

One of the most common signs of primary immunodeficiency is an increased susceptibility to infections. You may have infections that are more frequent, longer lasting or harder to treat than are the infections of someone with a normal immune system. You may also get infections that a person with a healthy immune system likely wouldn't get (opportunistic infections).

Signs and symptoms differ depending on the type of primary immunodeficiency disorder, and they vary from person to person.

Signs and symptoms of primary immunodeficiency can include:

  • Frequent and recurrent pneumonia, bronchitis, sinus infections, ear infections, meningitis or skin infections
  • Inflammation and infection of internal organs
  • Blood disorders, such as low platelet counts or anemia
  • Digestive problems, such as cramping, loss of appetite, nausea and diarrhea
  • Delayed growth and development
  • Autoimmune disorders, such as lupus, rheumatoid arthritis or type 1 diabetes

When to see a doctor

If your child or you have frequent, recurrent or severe infections or infections that don't respond to treatments, talk to your doctor. Early diagnosis and treatment of primary immune deficiencies may prevent infections that can cause long-term problems.

Causes

Many primary immunodeficiency disorders are inherited — passed down from one or both parents. Problems in the DNA — the genetic code that acts as a blueprint for producing the cells that make up the human body — cause many of the immune system defects in primary immunodeficiency.

There are numerous types of primary immunodeficiency disorders. In fact, research has led to a dramatic increase in the number of recognized primary immunodeficiency disorders in recent years, so they're not as rare as once thought. They can be broadly classified into six groups based on the part of the immune system that's affected:

  • B cell (antibody) deficiencies
  • T cell deficiencies
  • Combination B and T cell deficiencies
  • Defective phagocytes
  • Complement deficiencies
  • Unknown (idiopathic)

Risk factors

The only known risk factor is having a family history of a primary immune deficiency disorder, which increases your risk of having the condition.

Complications

Complications caused by a primary immunodeficiency disorder vary, depending on what type you have. They can include:

  • Recurrent infections
  • Autoimmune disorders
  • Damage to heart, lungs, nervous system or digestive tract
  • Slowed growth
  • Increased risk of cancer
  • Death from serious infection

Prevention

Because primary immune disorders are caused by genetic defects, there's no way to prevent them. But when you or your child has a weakened immune system, you can take steps to prevent infections:

  • Practice good hygiene. Wash your hands with mild soap after using the toilet and before eating.
  • Take care of your teeth. Brush your teeth at least twice a day.
  • Eat right. A healthy, balanced diet can help prevent infections.
  • Be physically active. Staying fit is important to your overall health. Ask your doctor what activities are appropriate for you.
  • Get enough sleep. Try to go to sleep and get up at the same time daily and get the same number of hours of sleep every night.
  • Manage stress. Some studies suggest that stress can hamper your immune system. Keep stress in check with massage, meditation, yoga, biofeedback or hobbies. Find what works for you.
  • Avoid exposure. Stay away from people with colds or other infections and avoid crowds.
  • Ask your doctor about vaccinations. Find out which ones you should have.
Jan. 20, 2015
References
  1. Primary immunodeficiency. National Institute of Child Health and Human Development. http://www.nichd.nih.gov/publications/pubs/Pages/primary_immuno.aspx. Accessed Nov. 23, 2014.
  2. About primary immunodeficiencies. Immune Deficiency Foundation. http://primaryimmune.org/about-primary-immunodeficiencies/. Accessed Dec. 2, 2014.
  3. Pasternack MS. Approach to the adult with recurrent infections. http://www.uptodate.com/home. Accessed Nov. 23, 2014.
  4. Stiehm ER. Approach to the child with recurrent infections. http://www.uptodate.com/home. Accessed Nov. 23, 2014.
  5. Primary immunodeficiency diseases. American Academy of Allergy, Asthma and Immunology. http://www.aaaai.org/conditions-and-treatments/primary-immunodeficiency-disease.aspx. Accessed Nov. 23, 2014.
  6. Berger M. Immune globulin therapy in primary immunodeficiency. http://www.uptodate.com/home. Accessed Nov. 23, 2014.
  7. General care. Immune Deficiency Foundation. http://primaryimmune.org/about-primary-immunodeficiencies/relevant-info/general-care/. Accessed Nov. 3, 2014.

Primary immunodeficiency