Abstract
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 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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Cell Separation
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Child
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Diagnosis, Differential
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Flow Cytometry
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Haemophilus Infections / complications
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Humans
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Introns / genetics
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Lymphoproliferative Disorders / etiology*
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Lymphoproliferative Disorders / genetics
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Lymphoproliferative Disorders / pathology
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Male
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Mosaicism*
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Mutation
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Purpura, Thrombocytopenic, Idiopathic / diagnosis
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RNA Splice Sites / genetics*
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Receptors, Antigen, T-Cell, gamma-delta / analysis
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Recurrence
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T-Lymphocyte Subsets / chemistry
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T-Lymphocyte Subsets / pathology*
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Wiskott-Aldrich Syndrome / blood
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Wiskott-Aldrich Syndrome / complications*
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Wiskott-Aldrich Syndrome / diagnosis
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Wiskott-Aldrich Syndrome / genetics
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Wiskott-Aldrich Syndrome Protein / analysis
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Wiskott-Aldrich Syndrome Protein / deficiency
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Wiskott-Aldrich Syndrome Protein / genetics
Substances
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RNA Splice Sites
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Receptors, Antigen, T-Cell, gamma-delta
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WAS protein, human
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Wiskott-Aldrich Syndrome Protein