Article
Wiskott-Aldrich syndrome in a female.
Blood - 15 Oct 2002
Lutskiy Maxim I, Sasahara Yoji, Kenney Dianne M, Rosen Fred S, Remold-O'Donnell Eileen
Abstract excerpt
Wiskott-Aldrich syndrome (WAS) is an X-linked disease characterized by thrombocytopenia, eczema, and various degrees of immune deficiency. Carriers of mutated WASP have nonrandom X chromosome inactivation in their blood cells and are disease-free. We report data on a 14-month-old girl with a history of WAS in her family who presented with thrombocytopenia, small platelets, and immunologic dysfunction. Sequencing...
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