Wiskott-Aldrich syndrome mutation in two Turkish siblings with X-linked thrombocytopenia

Wiskott-Aldrich syndrome (WAS) is a clinical condition characterized by thrombocytopenia, eczema, and life-threatening infections. In some cases autoimmunity-related problems and even malignancy might be seen; however, some patients have milder clinical manifestations due to mutations in the same ge...

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Bibliographic Details
Published in:Turkish journal of haematology 2011-05, Vol.28 (2), p.139-141
Main Authors: Göksel Leblebisatan, Ali Bay, Noriko Mitsuiki, Osamu Ohara, Kenichi Honma, Kohsuke İmai, Shigeaki Nonoyama
Format: Article
Language:English
Subjects:
wasp gene
wiskott-aldrich syndrome
x-linked thrombocytopenia
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Summary:Wiskott-Aldrich syndrome (WAS) is a clinical condition characterized by thrombocytopenia, eczema, and life-threatening infections. In some cases autoimmunity-related problems and even malignancy might be seen; however, some patients have milder clinical manifestations due to mutations in the same gene family, such as in X-linked thrombocytopenia (XLT), which is generally not associated with serious symptoms of disease, except for thrombocytopenia. Herein we report 2 siblings with chronic thrombocytopenia that were diagnosed with XLT based on a missense mutation in the WASP gene (223G>A, Val75Met). To the best of our knowledge this mutation has not been previously reported in a Turkish patient with XLT.
ISSN:1308-5263
DOI:10.5152/tjh.2011.31