Syndrome Wiskott - Aldrich syndrome : diagnosis

Due to the wide spectrum of the diagnosis of the syndrome Wiskott-Aldrich (ITS) should be borne in mind in any boy with unusual bleeding and bruises, congenital or early onset thrombocytopenia and small platelets.


characteristic platelet abnormalities, low numbers and small size, are almost always to be found in the umbilical cord blood at birth.The simplest and most useful test to diagnose is to count and careful determination of platelet size.

When CBO platelets are usually smaller than normal.In older children (over two years) You can also find a variety of immune disorders, which can confirm the diagnosis.

Certain types of serum antibodies may be low or absent in boys with WAS.They usually have low levels of antibodies to blood group antigens (isohemagglutinins for example, antibodies to A or B erythrocytes) and fail to produce antibodies to certain vaccines containing polysaccharides or complex sugars such as a vaccine against Streptococcus pneumoniae (Pneumovax).

Skin tests to assess T-lymphocyte function may show a negative response and laboratory tests of T-lymphocytes may reveal abnormalities.The diagnosis is confirmed by demonstrating a decrease or absence of CBO protein in blood cells or the presence of mutations in the WASP gene.These studies are done in a few specialized laboratories and require blood or other tissue.


CBO is inherited as an X-linked recessive trait.They suffer only boys.

Because the disease is hereditary and is transmitted as a recessive trait linked to the X chromosome, similar symptoms can be detected in the patient's brother or brothers of the patient's mother.

family history may be entirely negative because of small family size or because of the advent of a new mutation.It is estimated that about 1/3 of patients with newly diagnosed cause of the disease is a new mutation occurring during fertilization.

If the exact mutation of WASP in this family are not known, it is possible to perform prenatal DNA diagnosis on cells obtained by amniocentesis or chorionic villus sampling.

Article courtesy of a worldwide organization IPOPI, working to improve the lives of people with primary immunodeficiency.
Copyright 2007 owned fund Immune Deficiency Foundation, USA."Guidelines for the primary immunodeficiency diseases for patients and their families", from which the material is taken under the license, was developed Immune Deficiency Foundation with support from Baxter Healthcare Corporation.

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