Diagnosis

To help decide whether recurrent infections could be due to primary immunodeficiency, your doctor will ask about your history of illnesses and whether any close relatives have an inherited immune system disorder.

Your doctor also will perform a physical examination. Tests used to diagnose an immune disorder include:

  • Blood tests. Blood tests can determine if you have normal levels of infection-fighting proteins (immunoglobulin) in your blood and measure the levels of blood cells and immune system cells. Abnormal numbers of certain cells can indicate an immune system defect.

    Blood tests also can determine if your immune system is responding properly and producing antibodies — proteins that identify and kill foreign invaders such as bacteria or viruses.

  • Prenatal testing. Parents who've had a child with a primary immunodeficiency disorder may want to be tested for certain immunodeficiency disorders during future pregnancies. Samples of the amniotic fluid, blood or cells from the tissue that will become the placenta (chorion) are tested for abnormalities.

  • In some cases, DNA testing is done to test for a genetic defect. Test results make it possible to prepare for treatment soon after birth, if necessary.

Treatment

Treatments for primary immunodeficiency involve preventing and treating infections, boosting the immune system, and treating the underlying cause of the immune problem. In some cases, primary immune disorders are linked to a serious illness, such as an autoimmune disorder or cancer, which also needs to be treated.

Managing infections

  • Treating infections. Infections require rapid and aggressive treatment with antibiotics. Infections that don't respond may require hospitalization and intravenous (IV) antibiotics.
  • Preventing infections. Some people need long-term antibiotics to prevent respiratory infections and associated permanent damage to the lungs and ears. Children with primary immunodeficiency may not be able to have vaccines containing live viruses, such as oral polio and measles-mumps-rubella.
  • Treating symptoms. Medications such as ibuprofen (Advil, Motrin IB, others) for pain and fever, decongestants for sinus congestion, and expectorants to thin mucus in the airways may help relieve symptoms caused by infections.

    Postural drainage — using gravity and light blows to the chest to clear the lungs — may help relieve the discomfort of repeated (chronic) respiratory infections.

Treatment to boost the immune system

  • Immunoglobulin therapy. Immunoglobulin consists of antibody proteins needed for the immune system to fight infections. It can either be injected into a vein through an IV line or inserted underneath the skin (subcutaneous infusion). IV treatment is needed every few weeks, and subcutaneous infusion is needed once or twice a week.
  • Gamma interferon therapy. Interferons are naturally occurring substances that fight viruses and stimulate immune system cells. Gamma interferon is a manufactured (synthetic) substance given as an injection in the thigh or arm three times a week. It's used to treat chronic granulomatous disease, one form of primary immunodeficiency.
  • Growth factors. When immune deficiency is caused by a lack of certain white blood cells, growth factor therapy can help increase the levels of immune-strengthening white blood cells.

Stem cell transplantation

Stem cell transplantation offers a permanent cure for several forms of life-threatening immunodeficiency. Normal stem cells are transferred to the person with immunodeficiency, giving him or her a normally functioning immune system. Stem cells can be harvested through bone marrow, or they can be obtained from the placenta at birth (cord blood banking).

The stem cell donor — usually a parent or other close relative — must have body tissues that are a close biological match to those of the person with primary immunodeficiency. Even with a good match, however, stem cell transplants don't always work.

The treatment often requires that functioning immune cells be destroyed using chemotherapy or radiation before the transplants, leaving the transplant recipient temporarily even more vulnerable to infection.

Clinical trials

Explore Mayo Clinic studies testing new treatments, interventions and tests as a means to prevent, detect, treat or manage this disease.

Coping and support

Most people with primary immunodeficiency can go to school and work like everyone else. Still, you may feel as if no one understands what it's like to live with the constant threat of infections. Talking to someone who faces similar challenges may help.

Ask your doctor if there are support groups in the area for people with primary immunodeficiency or for parents of children with the disease. The Immune Deficiency Foundation has a peer support program, as well as information on living with primary immunodeficiency.

Preparing for your appointment

You'll likely start by seeing your family doctor or a general practitioner. You may then be referred to a doctor who specializes in disorders of the immune system (immunologist).

Here's some information to help you get ready for your appointment.

What you can do

  • Write down symptoms, including any that may seem unrelated to the reason for your appointment.
  • Bring copies of records from hospitalizations and medical test results, including X-rays, blood test results and culture findings.
  • Ask family members about the family medical history, including whether anyone was diagnosed with primary immunodeficiency, or if any babies or children died of unknown causes.
  • Make a list of medications, vitamins and supplements you or your child takes. If possible, list all of the antibiotic prescriptions and the dosages you or your child has taken for the past several months.
  • Ask a family member or friend to come with you, if possible. Someone who accompanies you may remember something you missed or forgot.
  • Write down questions to ask your doctor.

Preparing a list of questions can help you make the most of the time with the doctor. For primary immunodeficiency, basic questions include:

  • What's the most likely cause of these symptoms?
  • Are there other possible causes?
  • What tests are needed? Do these tests require special preparation?
  • What's the prognosis?
  • What treatments are available, and which do you recommend?
  • I have other health problems, how do I manage them together.
  • What side effects can be expected from treatment?
  • Are there alternatives to the primary approach you're suggesting?
  • Are there activity restrictions?
  • Are there brochures or other printed material I can have? What websites do you recommend?

Don't hesitate to ask any other questions, as well.

What to expect from your doctor

Your doctor or your child's doctor is likely to ask you a number of questions, including:

  • When did the symptoms begin?
  • Have symptoms been continuous or occasional?
  • How many infections have you or your child had during the past year?
  • How long do these infections usually last?
  • Do antibiotics usually clear up the infection?
  • How many times has your child taken antibiotics during the last year?
  • Does anyone in the family have primary immunodeficiency?
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