ENFERMEDAD DE WISKOTT ALDRICH PDF

Affected patients have mutations in the gene encoding Wiskott-Aldrich syndrome protein WASP , a key regulator of signaling and reorganization of the cytoskeleton in hematopoietic cells. Mutations in WASP gene lead to a wide clinical spectrum ranging from thrombocytopenia, immunodeficiency, eczema and high susceptibility to tumor development and manifestations such as skin infections, suppurative otitis and pneumonia. Clinical symptoms start around the age of 6 months. The laboratory tests show low platelet count and small size, but definitive diagnosis can only be confirmed by the demonstration of mutations in WASP gene.

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Affected patients have mutations in the gene encoding Wiskott-Aldrich syndrome protein WASP , a key regulator of signaling and reorganization of the cytoskeleton in hematopoietic cells. Mutations in WASP gene lead to a wide clinical spectrum ranging from thrombocytopenia, immunodeficiency, eczema and high susceptibility to tumor development and manifestations such as skin infections, suppurative otitis and pneumonia.

Clinical symptoms start around the age of 6 months. The laboratory tests show low platelet count and small size, but definitive diagnosis can only be confirmed by the demonstration of mutations in WASP gene.

Treatment of WAS is based on antimicrobial therapy, prophylactic use of intravenous gamma globulin and bone marrow transplantation. Life expectancy in treated individuals is around 20 years but without treatment is 3. Se ha reportado un mayor riesgo para el desarrollo de autoinmunidad y linfomas en estos pacientes. Las transfusiones con plaquetas deben de evitarse a menos que el sangrado sea grave; es decir, que no pueda ser manejado con medidas conservadoras, como las hemorragias del sistema nervioso central.

Correspondencia: Dra. Lizbeth Blancas Galicia. Insurgentes sur C, Cuicuilco, C.

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This article needs additional citations for verification. For severely low platelet counts, patients may require platelet transfusions or removal of the spleen. X-linked agammaglobulinemia Transient hypogammaglobulinemia of infancy. Clinical and Experimental Immunology.

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