Large granular lymphocyte proliferation and revertant mosaicism: two rare events in a Wiskott-Aldrich syndrome patient

K. Boztug, U. Baumann, M. Ballmaier, D. Webster, I. Sandrock, R. Jacobs, T. Lion, S. Preuner, M. Germeshausen, G. Hansen, K. Welte, C. Klein
2007 Haematologica  
haematologica online 2007 haematologica/the hematology journal | 2007; 92(online) | 43 | Large granular lymphocyte proliferation and revertant mosaicism: two rare events in a Wiskott-Aldrich syndrome patient We report on a 6 year old patient with an unusual clinical presentation of WAS and oligoclonal proliferation of TCRγ γδ δ + large granular lymphocytes (LGL). Flow cytometry demonstrated two distinct populations of lymphocytes with strongly decreased (WASP -) or normal expression levels of
more » ... SP (WASP + ), respectively. Molecular analysis confirmed a splice site mutation in intron 2 of the WASP gene in the WASP-cells but not in WASP + cells. LGL cells were WASP + , suggesting that two independent rare events, somatic revertant mosaicism and LGL expansion, have occurred in a child with WAS. Our report points to diagnostic difficulties in the presence of partial WASP reversions and LGL. Haematologica 2007; 92:(3)e43-e45
doi:10.3324/haematol.11222 pmid:17405757 fatcat:ory7fshau5bedb7tgpfevhnd7m