Haematologica, Vol 92, Issue 3, e43-e45 doi:10.3324/haematol.11222
Copyright © 2007 by Ferrata Storti Foundation
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Online Only Articles

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

K. Boztug*,1, U. Baumann2,*, M. Ballmaier1, D. Webster3, I. Sandrock1, R. Jacobs4, T. Lion5, S. Preuner5, M. Germeshausen1, G. Hansen2, K. Welte1, C. Klein1,

1 Department of Pediatric Hematology and Oncology, Hannover Medical School, Carl-Neuberg-Straße 1, D-30625 Hannover, Germany
2 Department of Pediatric Pulmonology and Neonatology, Hannover Medical School, Carl-Neuberg-Straße 1, D-30625 Hannover, Germany
3 Royal Free Hospital, Department of Clinical Immunology, Pond Street, London NW3 2QG, United Kingdom
4 Department of Clinical Immunology, Jeffrey Modell Center, Hannover Medical School, Carl-Neuberg-Straße 1, D-30625 Hannover, Germany
5 Children’s Cancer Research Institute, St Anna Children’s Hospital, Kinderspitalgasse, Vienna, Austria

Correspondence: Christoph Klein MD PhD, Department of Pediatric, Hematology/Oncology, Medical School Hannover Carl-Neuberg-Straße 1, D-30625 Hannover, Germany Tel:+49-511-532-6718, Fax: +49-511-532-9120, E-mail klein.christoph{at}mh-hannover.de

We report on a 6 year old patient with an unusual clinical presentation of WAS and oligoclonal proliferation of TCR{gamma}{delta} + 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 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.

Key words: Large granular lymphocytes, Wiskott-Aldrich syndrome, somatic reversion.