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Wiskott-Aldrich syndrome: causes, symptoms, diagnosis, treatment
Medical expert of the article
Last reviewed: 18.10.2021
Wiskott-Aldrich syndrome is characterized by impaired co-operation between B- and T-lymphocytes and is characterized by recurrent infections, atopic dermatitis and thrombocytopenia.
It is a hereditary disease linked to the X-chromosome. The cause of the development of Wiskott-Aldrich Syndrome are mutations in the gene that encodes the Wisk-Aldrich syndrome protein, a cytoplasmic protein necessary for normal signaling between T and B lymphocytes. In connection with dysfunction of T and B lymphocytes in patients develop infections caused by pyogenic bacteria and opportunistic organisms, especially viruses and Pneumocystis jiroveci (formerly P . Carinii ). The first manifestations may be hemorrhages (usually bloody diarrhea), then - recurrent respiratory infections, eczema, thrombocytopenia. In 10% of patients older than 10 years develop malignant neoplasms, lymphomas caused by the Epstein-Barr virus, and acute lymphoblastic leukemia.
The diagnosis is confirmed on the basis of detection of impaired production of antibodies in response to polysaccharide antigens, cutaneous anergy, partial T-cell insufficiency, increased IgE and IgA levels, low IgM levels, low or normal IgG levels. Partial defects of antibodies to polysaccharide antigens (for example, to antigens of blood groups A and B) can be observed. The platelets are small, with defects, their destruction in the spleen is increased, leading to thrombocytopenia. In the diagnosis, mutation analysis can be used.
Treatment involves splenectomy, prolonged antibiotic therapy, transplantation of HLA-identical bone marrow. Without transplantation, most patients die by the age of 15; however, some patients can live to adulthood.