Presentation of Wiskott Aldrich syndrome as isolated thrombocytopenia [letter; comment]

Two novel mutations identified in the Wiskott-Aldrich syndrome protein gene cause Wiskott-Aldrich syndrome and thrombocytopenia.

Wiskott-Aldrich syndrome (WAS) and X-linked thrombocytopenia (XLT) are rare X-linked genetic disorders caused by mutations of the Wiskott-Aldrich syndrome protein (WASP) gene. Both disorders are clinically characterized by chronic thrombocytopenia of small platelets. WAS is a more severe form of the disorder and also courses with eczema, and immune dysfunction. In the present study, we investig...

[The Wiskott-Aldrich syndrome].

can occur, the observed improvement cannot necessarily b)e attributed to the transfer factor. However, in two patients repeated remissions consistently followed transfer factor administration on repeated occasions. This included freedom from infections, regression of splenomegaly, and clearing of eczema. An unexpected finding was a decrease in bleeding in 3 of the 10 patients who had bleeding. ...

Wiskott-Aldrich syndrome with macrothrombocytopenia.

BACKGROUND Wiskott-Aldrich syndrome is a rare X-linked immunodeficiency disorder with a variable phenotype. CASE CHARACTERISTICS 3.5-year-old boy diagnosed with Wiskott-Aldrich syndrome. OBSERVATION Unusual and persistent thrombocytopenia with increased platelet volume (>10fL). He did not exhibit characteristic clinical and laboratory finding for the syndrome. OUTCOME Maternally inherited...

Wiskott-Aldrich Syndrome Protein (WASP) Syndrome Impair the Interaction of Mutations That Cause the Wiskott-Aldrich

[Molecular pathogenesis of Wiskott-Aldrich syndrome].

The Wiskott-Aldrich syndrome (WAS) is an X-linked primary immunodeficiency caused by mutations in the gene encoding the WAS protein (WASP). WASP is predominantly expressed in hematopoietic cells and regulates the reorganization of the actin cytoskeleton in response to various important cell stimuli including T cell receptor signaling. WASP is localized at the immunological synapses between T ce...