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Diagnostic Tests for SCID

SCID: Diagnostic Tests

The list of diagnostic tests mentioned in various sources as used in the diagnosis of SCID includes:

Home Diagnostic Testing

These home medical tests may be relevant to SCID:

Tests and diagnosis discussion for SCID:

The doctor will order tests to measure immune function. Because ongoing infections can interfere with results, tests may have to be repeated several times.

Patients usually have a very low number of white blood cells or lymphocytes, as well as few or no B and T cells. Those few cells they do have often do not function properly. Also, SCID patients have very low levels of IgG, IgA, and IgM antibodies.

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 1) lack an enzyme called adenosine deaminase (ADA), or 2) lack the ability to produce IL-2 receptor gamma chain, a molecule that T cells need to communicate with B cells.

How is SCID treated?

Transplanting bone marrow from a healthy sibling whose tissue type closely matches the patientís is the most effective treatment. If a matched sibling is not available, a donor as closely matched as possible is used. Until the transplant takes effect (in one to three years), intravenous immunoglobulin (IVIG) is given to normalize antibody levels. SCID patients with ADA deficiency have been treated successfully with enzyme replacement therapy called PEG-ADA. Gene therapy for correction of both forms of SCID is under investigation. (Source: excerpt from Primary Immune Deficiency, NIAID Fact Sheet: NIAID)

 

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