Primary immunodeficiencies : Wiskott syndrome - Aldrich

syndrome Wiskott-Aldrich is a primary immunodeficiency disease involving both T-lymphocytes and B-lymphocytes.In addition, the affected platelets - cells that help stop bleeding.

to classical forms syndrome Wiskott - Aldrich syndrome is characterized by a complex of disorders that includes excessive bleeding in connection with a reduction in the number of platelets, recurrent bacterial, viral and fungal infections and eczema of the skin.After identifying the gene responsible for this disorder, we now recognize that milder forms of the condition with the presence of some, but not all of the symptoms listed above.

In 1937, Dr. Wiskott described three brothers with low platelet counts (thrombocytopenia), bloody diarrhea, eczema and recurrent ear infections.Seventeen years later, in 1954, Dr. Aldrich demonstrated that this syndrome is inherited as an X-linked recessive trait.In the 50s and 60s of the 20th century, the signs of immune deficiency were identified, and Wiskott syndrome - Aldrich syndrome join

ed the list of primary immunodeficiencies.

syndrome Wiskott - Aldrich syndrome is a primary immunodeficiency disease involving both T-lymphocytes and B-lymphocytes.Also severely affected platelets - cells that help stop bleeding.

its classic form is a characteristic pattern of findings:

  • increased bleeding associated with a significant reduction in the number of platelets;
  • recurrent bacterial, viral and fungal infections;
  • skin eczema.

Furthermore, prolonged observations of patients with many patients showed an increased incidence of malignancies, such as lymphomas and leukemias, as well as an increased incidence of various autoimmune diseases.

reason CBO mutations (mistakes) in the gene responsible for the production of a protein whose name matches the name of disturbances - syndrome protein Wiskott - Aldrich (Wiskott - Aldrich Syndrome Protein, WASP).

WASP gene is located on the short arm of the X chromosome.Most of these mutations are unique.This means that almost every family has its own characteristic mutation of the WASP gene.If the mutation is severe and almost entirely eliminates the gene's ability to produce WAS protein, the patient has the classic, more severe form of the NWO.On the contrary, if there is some
production of mutated WAS protein, may develop a mild form of the disorder.

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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