Wiskott-aldrich syndrome
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Wiskott-Aldrich syndrome is a hereditary immunodeficiency disorder characterized by abnormal antibody (immunoglobulin) production, T-cell (lymphocyte) malfunction, a low platelet count, and eczema.
People with Wiskott-Aldrich syndrome tend to bleed easily, and the first symptom is usually bloody diarrhea.
The diagnosis is based on results of blood tests and sometimes genetic testing.
Stem cell transplantation is necessary to preserve life.(See also Overview of Immunodeficiency Disorders.)
Wiskott-Aldrich syndrome is a primary immunodeficiency disorder. It usually affects only boys. It results from a mutation in a gene on the X (sex) chromosome (called an X-linked disorder). This gene codes for a protein needed by T cells and B cells to function. Thus, these cells malfunction. B cells do not produce immunoglobulins normally.
Platelets (cell particles that help blood clot) are small and malformed. The spleen removes and destroys them, causing the platelet count to be low.
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