Index
These disorders, also called primary immune or primary immunodeficiency, weaken the immune system.
What allows infections and other health problems to occur more easily.
Many people with primary immunodeficiency are born without some of the body’s immune defenses, which makes them more susceptible to germs that can cause infections.
Some forms of primary immunodeficiency are so mild that they can go unnoticed for years. Other types are so severe that they are discovered almost as soon as an affected baby is born.
The treatments can stimulate the immune system for many types of primary immunodeficiency disorders. Most people with this condition lead a relatively normal and productive life.
symptom
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 more difficult to treat than infections of a person with a normal immune system.
You can also get infections that a person with a healthy immune system probably does not have (opportunistic infections).
The signs and symptoms vary according to the type of primary immunodeficiency disorder, and vary from person to person.
Signs and symptoms of primary immunodeficiency may 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 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 your child or you have frequent, recurrent, or severe infections or infections that do not respond to treatment, talk to your doctor.
Early diagnosis and treatment of primary immune deficiencies can prevent infections that can cause long-term problems.
Causes
Many primary immunodeficiency disorders are inherited, transmitted by one or both parents.
The genetic code that acts as a model to produce the cells that make up the human body, cause many of the defects of the immune system in primary immunodeficiency.
There are many types of primary immunodeficiency disorders. In fact, research has led to a dramatic increase in the number of primary immunodeficiency disorders recognized in recent years, so they are not as rare as previously thought.
They can be classified in general into six groups depending on the part of the immune system affected:
- Deficiencies of B cells (antibodies).
- T cell deficiencies
- B and T cell combination deficiencies
- Defective phagocytes
- Deficiencies of the complement.
- Unknown (idiopathic).
Risk factor’s
The only known risk factor is having a family history of a primary immunodeficiency disorder, which increases the risk of having the condition.
Complications
Complications caused by a primary immunodeficiency disorder vary, depending on the type you have. They can include:
- Recurrent infections
- Autoimmune disorders
- Damage to the heart, lungs, nervous system or digestive tract.
- Slow growth
- Increased risk of cancer
- Death due to a serious infection
Prevention
Because primary immune disorders are caused by genetic defects, 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:
- Wash your hands with mild soap after going to the bathroom and before eating.
- Brush your teeth at least twice a day.
- A healthy and balanced diet can help prevent infections.
- Staying fit is important for your overall health. Ask your doctor what activities are appropriate for you.
- Try to sleep and get up at the same time every day and get the same number of hours of sleep every night.
- Some studies suggest that stress can hamper your immune system.
- Keep stress under control with massage, meditation, yoga, biofeedback or hobbies. Find what works for you.
- Stay away from people with colds or other infections and avoid crowds.
- Ask your doctor about vaccines. Discover which ones you should have.
Diagnosis
To help decide if recurrent infections may be due to primary immunodeficiency, your doctor will ask about your history of diseases and if a close relative has a hereditary immune system disorder.
Your doctor will also perform a physical exam. Tests used to diagnose an immune disorder include:
Blood tests: Blood tests can determine if you have normal levels of proteins that fight infections ( immunoglobulin ) in your blood and measure the levels of blood cells and cells of the immune system.
The abnormal numbers of certain cells may indicate a defect in the immune system.
Blood tests can also determine if your immune system is responding properly and producing antibodies, proteins that identify and kill foreign invaders, such as bacteria or viruses.
Prenatal tests: Parents who had a child with a primary immunodeficiency disorder may wish to be tested for certain immunodeficiency disorders during future pregnancies.
The samples of the amniotic fluid: the blood or cells of the tissue that will become the placenta (chorion) are analyzed for abnormalities.
In some cases, DNA tests are performed to detect a genetic defect. The results of the test allow to prepare the treatment shortly after birth, if necessary.
Treatment
Treatments for primary immunodeficiency include prevention and treatment of infections, strengthening of the immune system and treatment of the underlying cause of the immune problem.
In some cases, primary immune disorders are related to a serious illness, such as an autoimmune disorder or cancer, which must also be treated.
Infection management
Treatment of infections: Infections require rapid and aggressive treatment with antibiotics. Infections that do not respond may require hospitalization and intravenous (IV) antibiotics.
Preventing infections: Some people need long-term antibiotics to prevent respiratory infections and permanent damage associated with the lungs and ears.
Children with primary immunodeficiency may not have vaccines that contain live viruses, such as oral polio and measles-mumps-rubella.
Treatment of symptoms
Medications such as ibuprofen (Advil, Motrin IB, others) for pain and fever, decongestants for sinus congestion and expectorants to dilute mucus in the airways can help relieve symptoms caused by infections.
Postural drainage (using gravity and light strokes on the chest to clean the lungs) can help relieve the discomfort of repeated (chronic) respiratory infections.
Treatment to stimulate the immune system
Immunoglobulin therapy: Immunoglobulin consists of antibody proteins necessary for the immune system to fight infections.
It can be injected into a vein through an intravenous line or inserted under the skin (subcutaneous infusion). IV treatment is necessary every few weeks, and a subcutaneous infusion is needed once or twice a week.
Interferon gamma therapy: Interferons are natural substances that fight viruses and stimulate immune system cells.
Gamma interferon is a manufactured (synthetic) substance that is given as an injection into the thigh or arm three times a week.
It is used to treat chronic granulomatous disease, a form of primary immunodeficiency.
Growth factors: When immune deficiency is caused by the lack of certain white blood cells, growth factor therapy can help increase levels of white blood cells that strengthen the immune system.
Stem cell transplant
Stem cell transplantation offers a permanent cure for several forms of life-threatening immunodeficiency. Normal stem cells are transferred to the person with immunodeficiency, which gives a normally functioning immune system.
Stem cells can be harvested through the bone marrow or can be obtained from the placenta at birth (umbilical cord blood bank).
The stem cell donor, usually a parent or other close relative, must have body tissues that match biologically with those of the person with primary immunodeficiency.
Even with a good combination, however, stem cell transplants do not always work.
Treatment often requires destroying immune cells that work with chemotherapy or radiation before transplants, leaving the transplant recipient temporarily more vulnerable to infection.
