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

被引：17

作者：

Boztug, K. ^{[1
]}

Baumann, U. ^{[2
]}

Ballmaier, M. ^{[1
]}

Webster, D. ^{[3
]}

Sandrock, I. ^{[1
]}

Jacobs, R. ^{[4
]}

Lion, T. ^{[5
]}

Preuner, S. ^{[5
]}

Germeshausen, M. ^{[1
]}

Hansen, G. ^{[2
]}

Welte, K. ^{[1
]}

Klein, C. ^{[1
]}

机构：

[1] Hannover Med Sch, Dept Pediat Hematol & Oncol, D-30625 Hannover, Germany

[2] Hannover Med Sch, Dept Pediat Pulmonol & Neonatol, D-30625 Hannover, Germany

[3] Royal Free Hosp, Dept Clin Immunol, London NW3 2QG, England

[4] Hannover Med Sch, Dept Clin Immunol, Jeffrey Modell Ctr, D-30625 Hannover, Germany

[5] St Anna Childrens Hosp, Childrens Canc Res Inst, Vienna, Austria

来源：

HAEMATOLOGICA | 2007年 / 92卷 / 03期

关键词：

Large granular lymphocytes; Wiskott-Aldrich syndrome; somatic reversion;

D O I：

10.3324/haematol.11222

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：E43 / E45

页数：3

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