Primary Immunodeficiencies – Symptoms and Treatments Many Don’t Know. In addition, Primary Immunodeficiencies are disorders in which part of the body’s immune system is missing or not functioning normally. To be considered a Primary Immunodeficiency , the cause of the immunodeficiency must not be secondary in nature (i.e., caused by another illness, drug treatment, or environmental exposure to toxins). Most Primary Immunodeficiencies are genetic disorders.
Most are diagnosed in children younger than one year, although milder forms are not recognized until adulthood. Although there are over 100 recognized Primary Immunodeficiencies , most are very rare. About 1 in 500 people in the United States are born with a Primary Immunodeficiency .
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Immune deficiencies can result in persistent or recurrent infections, anti-inflammatory disorders, tumors, and disorders of various organs. There are currently no cures for these conditions. Treatment is palliative and consists of managing infections and boosting the immune system .
Causes of Primary Immunodeficiencies: Many Primary Immunodeficiency disorders are inherited, passed on by one or both parents. Problems in DNA – the genetic code that acts as a blueprint to produce the cells that make up the human body – cause many of the immune system defects in Primary Immunodeficiencies .
There are several 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 into six groups based on which part of the immune system is affected:
- B cell (antibody) deficiencies.
- T cell deficiencies.
- Combating T and T cell deficiencies.
- Defective phagocytes.
- Complement deficiencies.
- Unknown (idiopathic).
Symptoms of Primary Immunodeficiencies: One of the most common signs of Primary Immunodeficiencies is an increased susceptibility to infections. You may have infections that are more frequent, lasting, or difficult to treat than infections in someone withnormal immune system . You can also get infections that a person with ahealthy immune system would not likely 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 Immunodeficiencies 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 cramps, loss of appetite, nausea and diarrhea.
- Delayed growth and development.
- Autoimmune diseases 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 Immunodeficiencies can prevent infections that can cause long-term problems.
Treatments and Drugs: Treatments for Primary Immunodeficiencies 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 disease or cancer, that also needs to be treated.
Managing Infections: Treating Infections. Infections require rapid and aggressive treatment with antibiotics. Infections that do not respond may require hospitalization and intravenous (IV) antibiotics. Infection prevention.
Some people need long-term antibiotics to prevent respiratory infections and associated permanent damage to the lungs and ears. Children with Primary Immunodeficiencies 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 for thin mucus in the airways can help relieve symptoms caused by infections. Postural drainage—using gravity and light blows to the chest to clear the lungs—can help relieve discomfort from repeated (chronic) respiratory infections.
Treatment of Primary Immunodeficiencies: Immunoglobulin Therapy. Immunoglobulin consists of antibody proteins needed by the immune system to fight infections. It can be injected into a vein through an IV line or inserted under the skin (subcutaneous infusion). IV treatment is required every few weeks, and subcutaneous infusion is required once or twice a week. Interferon gamma 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 into the thigh or arm three times a week. It is used to treat chronic granulomatous disease, a form of Primary Immunodeficiencies . Growth factors.
When immune deficiency is caused by a lack of certain white blood cells, growth factor therapy can help increase levels of white blood cells that strengthen the immune system.
Stem Cell Transplantation: Stem cell transplantation offers a permanent cure for various forms ofpotentially fatal immunodeficiency . Normal stem cells are transferred to the person with Primary Immunodeficiencies , giving them anormally functioning immune system . Stem cells can be harvested through the bone marrow, or they 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 are a close biological match to those of the person with Primary Immunodeficiencies .
Even with a good combination, however, stem cell transplants don’t always work. Treatment usually requires that functioning immune cells be destroyed with chemotherapy or radiation before transplants, leaving the transplant recipient temporarily even more vulnerable to infection.