What is Immune Deficiency?
What is Immune Deficiency?

Primary immunodeficiency disorders also called primary immune disorders or primary immunodeficiency weaken the immune system, allowing repeated 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 of primary immunodeficiency are severe enough that they are discovered almost as soon as an affected baby is born.

Treatments can boost the immune system for many types of primary immunodeficiency disorders. Most children with primary immunodeficiency disorders lead relatively normal lives, and are able to go to school and play with friends.

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 (called opportunistic infections). There are more than 70 types of primary immunodeficiency disorders, and signs and symptoms differ depending on the particular type of disorder you have. Signs and symptoms also vary from person to person.

Signs and symptoms of primary immunodeficiency can include:

1) Frequent and recurrent ear infections, pneumonia, meningitis, bronchitis, sinus infections or skin infections
2) Blood infections

In addition to frequent infections, other problems that may occur include:

1) Inflammation and infection of internal organs, such as the liver
2) Autoimmune disorders, such as lupus, rheumatoid arthritis or type 1 diabetes
3) Blood disorders, such as low platelet counts or anemia
4) Digestive problems, such as cramping, loss of appetite, nausea and diarrhea
5) Delayed growth and development

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. They can be broadly classified into six groups based on the part of the immune system that's affected:

1) B cell (antibody) deficiencies
2) T cell deficiencies
3) Combination B and T cell deficiencies
4) Defective phagocytes
5) Complement deficiencies
6) Unknown (idiopathic)

B cell deficiencies are the most common type of primary immunodeficiency disorder.

Western Medicine 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

Antibiotics. Infections are typically treated with antibiotics. In cases where infections don't respond to standard medications, hospitalization and treatment with intravenous (IV) antibiotics may be necessary. Some people need to take antibiotics long term to prevent infections from occurring and to prevent permanent damage to the lungs and ears.

Treating symptoms. You may need medications to relieve symptoms caused by infections, such as ibuprofen for pain and fever, decongestants for sinus congestion, and expectorants to help clear your airways.

Treatment to boost the immune system

Immunoglobulin therapy. Also called gamma globulin therapy, this treatment can be a lifesaver for people who have an antibody deficiency. Immunoglobulin consists of antibody proteins needed for the immune system to fight infections. It can be either injected into a vein through an IV line, or inserted underneath the skin (subcutaneous infusion). Treatment with intravenous gamma globulin is needed every few weeks to maintain sufficient levels of immunoglobulins. 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 man-made (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, such as granulocyte-macrophage colony-stimulating factor (Leukine) and granulocyte colony-stimulating factor (Neupogen, Neulasta), can help increase the levels of immune-strengthening white blood cells.

Treatment to cure primary immunodeficiency

Stem cell transplantation. Stem cell transplantation offers a permanent cure for several forms of life-threatening immunodeficiency. With this treatment, normal stem cells are transferred to the person with immunodeficiency, giving them 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). For stem cell transplantation to work, the 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. Stem cells that are not a good match may be rejected by the immune system. But even with a good match, stem cell transplants don't always work. Additionally, the treatment often requires that any functioning immune cells be destroyed using chemotherapy or radiation prior to the transplants, leaving the transplant recipient even more vulnerable to infection temporarily.

Future treatments

Gene therapy. Researchers hope this treatment will one day be a cure for primary immune disorders and many other conditions. Gene therapy actually replaces defective genes with genes that work correctly. A harmless virus is used to carry the genes into the bodys cells. In turn, the newly introduced genes trigger the production of healthy immune system enzymes and proteins. Experts have identified many of the genes that cause primary immune deficiencies but they still need to work out many problems. For example, some of the missing or defective genes are only activated during the early development of the immune system, so even if scientists can figure out how to get that gene where it needs to be, it would also have to trigger the development of the missing functions. Although the technique has shown promise in some initial trials, gene therapy is still experimental.

Adopted From Mayo Clinic