Immunodeficiency disorders occur when the body's immune response is reduced or absent.
See also: Autoimmune disorders
Causes, incidence, and risk factors:
The immune system is made up of lymphoid tissue in the body, which includes the bone marrow, lymph nodes, thymus, tonsils, and parts of the spleen and gastrointestinal tract. In addition, there are proteins and cells in the blood that are part of the immune system.
The immune system helps protect the body from harmful substances called antigens . Examples of antigens include bacteria, viruses, toxins , cancer cells, and foreign blood or tissues from another person or species.
When the immune system detects an antigen, it responds by producing proteins called antibodies that destroy the harmful substances. The immune system response also involves a process called phagocytosis. During this process, certain white blood cells swallow and destroy bacteria and other foreign substances.
Immune system disorders occur when the immune system does not fight tumors or harmful substances as it should. The immune response may be overactive or underactive.
Immunodeficiency disorders may affect any part of the immune system. Most commonly, such a condition occurs when specialized white blood cells called T or B lymphocytes (or both) do not work as well as they should, or when your body doesn't produce enough antibodies.
Inherited immunodeficiency disorders that affect B cells include:
- Hypogammaglobulinemia, which usually causes respiratory and gastrointestinal infections
Agammaglobulinemia , which results in frequent severe infections early in life, and is often deadly
Inherited immunodeficiency disorders that affect T cells may cause increased susceptibility to fungi, resulting in recurring Candida (yeast) infections. Inherited combined immunodeficiency affects both T cells and B cells. It may be deadly within the first year of life if it isn't treated early.
People are said to be immunosuppressed when they have an immunodeficiency disorder due to medicines that affect the immune system (such as corticosteroids). Immunosuppression is also a common side effect of chemotherapy given to treat cancer.
Acquired immunodeficiency may be a complication of diseases such as HIV infection and malnutrition (particularly with a lack of protein). Many cancers may also cause immunodeficiency.
People who have had their spleen removed have an acquired immunodeficiency, and are at higher risk for infection by certain bacteria that the spleen would normally help fight. Patients with diabetes are also at higher risk for certain infections.
Increasing age reduces the effectiveness of the immune system to some degree. Immune system tissues (particularly lymphoid tissue such as the thymus) shrink, and the number and activity of white blood cells drop.
The following conditions and diseases can result in an immunodeficiency disorder:
- Chediak-Higashi syndrome
- Combined immunodeficiency disease
- Complement deficiencies
- DiGeorge syndrome
- Job syndrome
- Leukocyte adhesion defects
- Bruton disease
- Congenital agammaglobulinemia
- Selective deficiency of IgA
- Wiscott-Aldrich syndrome
The symptoms vary with the specific disorder.
Signs and tests:
Your doctor might think you have an immunodeficiency disorder if you have:
- Persistent, recurrent infections
- Severe infection by microorganisms that do not usually cause severe infection
Other signs include:
- Poor response to treatment for infections
- Delayed or incomplete recovery from illness
- Certain types of cancers (such as Kaposi's sarcoma or non-Hodgkin's lymphoma )
- Certain infections (including some forms of pneumonia or recurrent yeast infections)
Tests used to help diagnose an immunodeficiency disorder may include:
The goal of treatment is to prevent infections and treat any disease and infections that do develop.
If you have a weakened immune system, you should avoid contact with persons who have infections or contagious disorders. You may have to avoid people who have been vaccinated with live virus vaccines within the past 2 weeks.
If you develop an infection, your doctor will treat you aggressively. This may involve long-term use of antibiotic or antifungal medications and preventive (prophylactic) treatments.
Interferon is used to treat viral infections and some types of cancer. It is an immunostimulant drug, a medicine that makes the immune system work better.
Persons with HIV or AIDS may take combinations of drugs to reduce the amount of virus in their immune systems and improve their immunity.
Patients who are going to have a planned splenectomy should be vaccinated two weeks before the surgery against bacteria such as Streptococcus pneumonia and Hemophilus influenzae.
Bone marrow transplants may be used to treat certain immunodeficiency conditions.
Passive immunity (receiving antibodies produced by another person or animal) may occasionally be recommended to prevent illness after exposure to a microorganism.
Patients with hypogammaglobulinemia are treated with periodic immunoglobulin infusions through a vein to raise blood immunoglobulin levels toward the normal range and protect against many infections.
Some immunodeficiency disorders are mild and result in occasional illness. Others are severe and may be fatal. Immunosuppression that results from medications is often reversible once the medication is stopped.
- Disease development
- Frequent or persistent illness
- Increased risk for certain cancers or tumors
- Opportunistic infections
Calling your health care provider:
Call your health care provider immediately if you are on chemotherapy or corticosteroids (such as prednisone, Medrol, or Decadron) and you develop a fever greater than 100.5 degrees Fahrenheit or have a cough with shortness of breath.
Go to the emergency room if you have a stiff neck and headache with the fever.
Contact your health care provider if you have repeated yeast infections or oral thrush.
There is no known way to prevent congenital immunodeficiency disorders. Genetic counseling should be offered to people who want to have children and who have a family history of immunodeficiency disorders.
Practicing safe sex and avoiding the sharing of body fluids may help prevent HIV infection and AIDS. Good nutrition may prevent acquired immunodeficiency caused by malnutrition.
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Ballow M. Primary immunodeficiency diseases. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 271.
Morimoto Y. Immunodeficiency overview. Prim Care. 2008;35:159-173.