Article
Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome.
Molecular immunology - 1 Feb 2011
Gulácsy Vera, Freiberger Tomas, Shcherbina Anna, Pac Malgorzata, Chernyshova Liudmyla, Avcin Tadej, Kondratenko Irina, Kostyuchenko Larysa, Prokofjeva Tatjana, Pasic Srdjan, Bernatowska Ewa, Kutukculer Necil, Rascon Jelena, Iagaru Nicolae, Mazza Cinzia, Tóth Beáta, Erdos Melinda, van der Burg Mirjam, Maródi László
Abstract excerpt
The Wiskott-Aldrich syndrome (WAS) is an X-linked recessive immune deficiency disorder characterized by thrombocytopenia, small platelet size, eczema, recurrent infections, and increased risk of autoimmune disorders and malignancies. WAS is caused by mutations in the WASP gene which encodes WASP, a 502-amino acid protein. WASP plays a critical role in actin cytoskeleton organization and signalling, and functions...
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