Wiskott-Aldrich Syndrome

Research on Wiskott-Aldrich syndrome reported by K. Boztug et al

Published in Blood Weekly, August 7th, 2008

"Wiskott-Aldrich syndrome (WAS) is an X-linked primary immunodeficiency disorder associated with microthrombocytopenia, eczema, autoimmunity and predisposition to malignant lymphoma. Although rare, few cases of somatic mosaicism have been published in WAS patients to date," investigators in Hannover, Germany report.

"We here report on two Ukrainian siblings who were referred to us at the age of 3 and 4 years, respectively. Both patients suffered from severe WAS caused by a nonsense mutation in exon 1 of the WAS gene. In both siblings, flow cytometric analysis revealed the presence of Wiskott-Aldrich syndrome protein (WASp)-positive and WASp-negative cell populations...

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Source: Blood Weekly (2008-08-07)

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