Article
Large granular lymphocyte proliferation and revertant mosaicism: two rare events in a Wiskott-Aldrich syndrome patient.
Haematologica - 1 Mar 2007
Boztug Kaan, Baumann Ulrich, Ballmaier Matthias, Webster David, Sandrock Inga, Jacobs Roland, Lion Thomas, Preuner Sandra, Germeshausen Manuela, Hansen Gesine, Welte Karl, Klein Christoph
Abstract excerpt
We report on a 6 year old patient with an unusual clinical presentation of WAS and oligoclonal proliferation of TCR+ large granular lymphocytes (LGL). Flow cytometry demonstrated two distinct populations of lymphocytes with strongly decreased (WASP-) or normal expression levels of WASP (WASP+), respectively. Molecular analysis confirmed a splice site mutation in intron 2 of the WASP gene in the WASP- cells but...
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