The Wiskott-Aldrich syndrome is a combined B and T cell defect underlying is expressed in recurrent infections, eczema and thrombocytopenia.
(See also Overview of immune deficiency disorders, and approach to the patient with an immunodeficiency disorder.)
The Wiskott-Aldrich syndrome is a combined B and T cell defect underlying is expressed in recurrent infections, eczema and thrombocytopenia. (See also Overview of immune deficiency disorders, and approach to the patient with an immunodeficiency disorder.) In Wiskott-Aldrich syndrome is a primary immunodeficiency disease, the combined humoral and cellular immunity defects include. The disease is an X-linked recessive trait. It is caused by mutations in a gene that encodes the Wiskott-Aldrich protein (WASP), a cytoplasmic, important for the B and T-cell signal transduction protein. Since B and T cell functions are inhibited, there will be infections with pyogenic bacteria and opportunistic organisms, esp. Virus and Pneumocystis jirovecii. Infection with varicella-zoster virus and herpes virus are common. Symptoms and complaints The first symptoms are often hemorrhagic (bloody diarrhea usually) followed by recurrent respiratory infections, eczema and thrombocytopenia. Cancers, especially Epstein-Barr virus lymphomas and acute lymphocytic leukemia develop about 10% of patients> 10 years. Diagnostic immunoglobulin mirror detection of platelet count and platelet volume leukocyte function tests (e.g., neutrophil chemotaxis, T-cell function.) The diagnosis of the Wiskott-Aldrich syndrome based on the following basis: Diminished T-cell number and function Elevated IgE and IgA levels Low IgM Low mirrors or normal IgG levels Decreased cytotoxicity of natural killer cells impaired neutrophil chemotaxis antibodies to polysaccharide antigens (eg. as the blood group antigens A and B) may be selectively deficient. The platelets are small and defective, and their destruction in the spleen is increased, which has the consequence thrombocytopenia. A mutation analysis can be used to confirm the diagnosis. Genetic tests are first-degree relatives advised Because the risk for lymphoma and leukemia is increased, a complete blood count with differential is usually taken every 6 months. Acute symptom changes in the dysfunction of the B cells to make a more complete evaluation is required. Therapy Supportive care with prophylactic immunoglobulin, antibiotics and acyclovir Symptomatic thrombocytopenia platelet transfusion and rarely splenectomy hematopoietic Stammzellenttransplantation Treatment is with prophylactic antibiotics and immunoglobulin to prevent recurrent bacterial infections with acyclovir for prevention of severe herpes simplex virus infections and platelet transfusions to treat bleeding. If the thrombocytopenia is difficult, splenectomy may be made while but is generally avoided as it increases the risk of septicemia. The only established healing is a hematopoietic Stammzellentranplantation, but gene therapy is currently being investigated. Without transplant, most patients die before the age of 15 years; However, some patients reach adulthood.