Primary immunodeficiency

Description

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 or with the immune system is not working properly, which leaves them more susceptible to germs that can cause infections.

Until now, researchers have identified more than 300 forms of primary immunodeficiency disorders. Some forms are so mild that can go unnoticed until adulthood. Other types are severe enough that they are discovered shortly after a baby is born.

The treatments can boost the immune system in many types of primary immunodeficiency disorders. The investigation is ongoing, leading to improved treatments and improve the quality of life of people living with the condition.

Symptoms

One of the most common signs of primary immunodeficiency is to have infections that are more frequent, last longer, or are more difficult to treat than are infections of someone with a typical immune system. You may also get infections that a person with a healthy immune system is likely not to be achieved (opportunistic infections).

The signs and symptoms vary depending on the type of primary immunodeficiency disorder, and may vary from person to person.

The signs and symptoms of primary immunodeficiency can include:

  • Frequent and recurrent pneumonia, bronchitis, sinusitis, ear infections, meningitis or skin infections
  • The inflammation and infection of the internal organs
  • Disorders of the blood, such as low platelet count, or anemia
  • Digestive problems, such as cramps, loss of appetite, nausea, and diarrhea
  • Delay in growth and development
  • Autoimmune disorders, such as lupus, rheumatoid arthritis or type 1 diabetes

When to see a doctor

If you or your child has frequent, recurrent or severe infections or infections that do not respond to treatments, talk with your health care provider. The early diagnosis and treatment of primary immunodeficiencies can prevent the infections that can cause long-term problems.

Causes

Many primary immunodeficiency disorders are inherited, passed on from one or both parents. Problems in the genetic code that acts as a blueprint for the production of cells in the body (DNA) causes many of these defects of the immune system.

There are more than 300 types of primary immunodeficiency disorders, and researchers continue to identify more. They can be classified into six groups according to the part of the immune system that affects:

  • B-cell (antibody) deficiencies
  • T-cell deficiencies
  • The combination of 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 immunodeficiency disorder, which increases your risk of having the disease.

If you have a type of primary immunodeficiency disorder, you may want to seek genetic counseling if you plan to have a family.

Complications

The complications caused by a disorder of primary immunodeficiency vary depending on what type. These may include:

  • Recurrent infections
  • Autoimmune disorders
  • Damage to the heart, the lungs, the nervous system or the digestive tract
  • Growth retardation
  • Increased risk of cancer
  • The death of serious infection

Prevention

Because primary immune disorders are caused by genetic changes, there is 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 soap after using the bathroom and before eating.
  • Take care of your teeth. Brush your teeth at least twice a day.
  • Eat well. A healthy and balanced diet can help prevent infections.
  • Be physically active. Keeping 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 wake up at the same time daily, and you get the same number of hours of sleep each night.
  • Manage stress. Some studies suggest that stress can affect your immune system. Control stress with a massage, meditation, yoga, biofeedback, or hobbies. Find what works for you.
  • Avoid exposure. Stay away from people with colds or other infections and to avoid the crowds.
  • Ask your doctor about the vaccines. Find out what are the must-have.

Primary immunodeficiency

Diagnosis

Your doctor will ask about your history of illness, and if close relatives have an inherited disorder of the immune system. Your doctor will also perform a physical exam.

The tests used to diagnose a disorder of the immune system include:

  • Blood tests.Blood tests can determine if you have typical levels of infection-fighting proteins (immunoglobulin) in your blood and measure the levels of blood cells and cells of the immune system. You have the numbers of certain cells in the blood that are outside of the standard range may indicate an immune system defect. Blood tests can also determine if your immune system is responding properly and the production of proteins that identify and kill foreign invaders, such as bacteria or virus (antibodies).
  • Prenatal testing.Parents who have a child with a primary immunodeficiency disorder may want to be tested for certain immunodeficiency disorders during future pregnancies. Samples of amniotic fluid, blood, or tissue cells that will become the placenta (chorion) are tested for problems. In some cases, DNA testing is done to check for the genetic defect. Test results do everything possible to prepare for the treatment shortly after birth, if necessary.

Blood tests. Blood tests can determine if you have typical levels of infection-fighting proteins (immunoglobulin) in your blood and measure the levels of blood cells and cells of the immune system. You have the numbers of certain cells in the blood that are outside of the standard range may indicate an immune system defect.

Blood tests can also determine if your immune system is responding properly and the production of proteins that identify and kill foreign invaders, such as bacteria or virus (antibodies).

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

In some cases, DNA testing is done to check for the genetic defect. Test results do everything possible to prepare for the treatment shortly after birth, if necessary.

Treatment

Treatments for primary immunodeficiency involving the prevention and treatment of infections, strengthen the immune system, and the treatment of the underlying cause of the immune response problem. In some cases, primary disorders of the immune system are linked to a serious illness, such as an autoimmune disorder or cancer, but must also be treated.

Management of infections

  • The treatment of infections. Infections require rapid and aggressive treatment with antibiotics. The treatment may require a longer course of antibiotics that you are prescribed. Infections that do not respond may require hospitalization and intravenous (IV) antibiotics.
  • The prevention of infections. Some people need long-term antibiotics for preventing respiratory infections and permanent damage to the lungs and ears. Children with primary immunodeficiency may not be able to have vaccines that contain live viruses, such as the oral polio, and measles-mumps-rubella.
  • Immunoglobulin therapy. The immunoglobulin is made up of antibodies proteins needed for the immune system to fight infections. It can be injected into a vein through an intravenous line (IV) or is inserted under the skin (subcutaneous infusion). need a treatment every few weeks, and the subcutaneous infusion you need one or two times a week.

The treatment is to restore the immune system

  • The transplantation of stem cells.The transplantation of stem cells offers a permanent cure for various forms of life-threatening immunodeficiency. Normal stem cells are transferred to the person with immunodeficiency, resulting in a typical functioning of the immune system. Stem cells can be collected through the bone marrow, or can be obtained from a placenta at birth (umbilical cord blood). The stem cells of the donor, usually a parent or other close relative — you must have the tissues of the body that are close biological match to the person with primary immunodeficiency. Even with a good match, however, stem cell transplants don't always work. The treatment often requires that the functioning of the immune cells to be destroyed by chemotherapy or radiation before the transplant, leaving the recipient of a transplant temporarily even more vulnerable to the infection.
  • The gene therapy. This type of treatment involves taking stem cells from the person with primary immunodeficiency, the correction of the genes in the cells, and then return the corrected stem cells back to the person through an intravenous infusion. With gene therapy, there is no need to find a suitable donor, as the person's own cells are used. Currently, this treatment is used to treat only a couple of primary immunodeficiencies, but clinical trials are being carried out many other types.

The transplantation of stem cells. The transplantation of stem cells offers a permanent cure for various forms of life-threatening immunodeficiency. Normal stem cells are transferred to the person with immunodeficiency, resulting in a typical functioning of the immune system. Stem cells can be collected through the bone marrow, or can be obtained from a placenta at birth (umbilical cord blood).

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

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

Depending on the type of disorder, treatment may involve other therapies, such as enzyme replacement therapy, or transplantation of thymus, an organ located behind the sternum (breastbone) that produces t cells.

Coping and support

Most people with primary immunodeficiency can go to school and work, like all the others. Even so, you might feel as if no one understands what it is to live with the constant threat of infections. Talking to someone who is facing similar challenges can 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 program of peer support, as well as information about living with primary immunodeficiency.

Preparing for your appointment

It is likely to start by seeing your family doctor or primary care physician. It could then be referred to a doctor who specializes in disorders of the immune system (immunology).

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

What you can do

  • Write down your symptoms, including any that may seem unrelated to the reason of his appointment, and when they began.
  • Bring copies of the records of hospitalizations, and the results of a medical examination, including x-rays, blood test results, and the culture of the findings.
  • Ask family members about the family medical history, including whether someone was diagnosed with primary immunodeficiency, or if your family has babies or children who died of unknown causes.
  • Make a list of the medicines, vitamins, and supplements that you or your child is taking, including dosage. If possible, a list of all antibiotic prescriptions, and the dose that you or your child has taken in the last few months.
  • Write questions to ask their doctor.

Ask a family member or friend to come with you, if possible, to help you remember the information they give you.

By primary immunodeficiency, questions to ask your doctor include:

  • What is the most likely cause of these symptoms?
  • There are other possible causes?
  • What tests are needed? Do these tests require special preparation?
  • What is the prognosis?
  • What treatments are available, and which do you recommend?
  • I have other health problems, how they are administered together.
  • There are alternatives to the primary approach you're suggesting?
  • There are activity restrictions?
  • Are there brochures or other printed material I can have? What sites do you recommend?

Do not hesitate to ask any other questions, also.

What to expect from your doctor

Your doctor or your child's doctor is likely to ask questions such as:

  • When did the symptoms begin?
  • The symptoms have been continuous or occasional?
  • How many of the infections that you or your child has had during the past year?
  • How long these infections usually last?
  • Do antibiotics usually clear the infection?
  • How many times has your child taken antibiotics during the last year?
Symptoms and treatment of Primary immunodeficiency