Severe Combined Immunodeficiency
Updated March 05, 2015.
Approximately one in every million people develop SCID, a group of inherited disorders. People with SCID have severe abnormalities in both B and T cell immunity.
Patients usually have a very low number of white blood cells, as well as few or no B and T cells. The few cells they have often do not function properly. Also, SCID patients have very low levels of IgG, IgA, and IgM antibodies.
If a matched sibling is not available, a donor as closely matched as possible can help. Until the transplant takes effect (in one to three years), the patient will be given intravenous immunoglobulin (IVIG) to get the antibody levels back to normal.
Doctors have treated SCID patients who have ADA deficiency successfully with enzyme replacement therapy called PEG-ADA. Researchers are investigating gene therapy to correct both forms of SCID.
For More Information:
reproduced from the National Institute of Allergy and Infectious Diseases Fact Sheet on Primary Immune Deficiency
Approximately one in every million people develop SCID, a group of inherited disorders. People with SCID have severe abnormalities in both B and T cell immunity.
What causes SCID?
A number of genetic abnormalities can cause SCID. The two most common forms are linked to the X chromosome. Patients with abnormalities on this chromosome either- lack an enzyme called adenosine deaminase (ADA) or
- lack the ability to produce interleukin (IL)-2 receptor gamma chain, a molecule that T cells need to communicate with B cells.
What are the symptoms of SCID?
Babies typically have symptoms within the first three months of life. They usually get many serious or life-threatening infections, especially pneumonia, meningitis, and sepsis (blood infection). Common infections like chickenpox, measles, or cold sores can overwhelm their immune systems. These infants also commonly have chronic skin infections, candida (yeast) infections of the mouth and diaper area, chronic hepatitis, diarrhea, and blood disorders.How is SCID diagnosed?
The doctor will order tests to measure how well the immune system is functioning. Because ongoing infections can interfere with test results, the doctor may have to repeat tests several times.Patients usually have a very low number of white blood cells, as well as few or no B and T cells. The few cells they have often do not function properly. Also, SCID patients have very low levels of IgG, IgA, and IgM antibodies.
How is SCID treated?
Transplanting bone marrow from a healthy brother or sister whose tissue type closely matches the patient's is the most effective treatment.If a matched sibling is not available, a donor as closely matched as possible can help. Until the transplant takes effect (in one to three years), the patient will be given intravenous immunoglobulin (IVIG) to get the antibody levels back to normal.
Doctors have treated SCID patients who have ADA deficiency successfully with enzyme replacement therapy called PEG-ADA. Researchers are investigating gene therapy to correct both forms of SCID.
For More Information:
reproduced from the National Institute of Allergy and Infectious Diseases Fact Sheet on Primary Immune Deficiency
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