X-linked Thrombocytopenia with Normal Wiskott-Aldrich Syndrome Protein Expression in Lymphocytes and a Novel Wiskott-Aldrich Syndrome Protein Gene Variant: A Case Report and Brief Review of the Literature

X-linked Thrombocytopenia with Normal Wiskott-Aldrich Syndrome Protein Expression in Lymphocytes and a Novel Wiskott-Aldrich Syndrome Protein Gene Variant: A Case Report and Brief Review of the Literature

We present a case of X-linked thrombocytopenia (XLT) with a novel WAS gene variant expressing a normal amount of Wiskott-Aldrich syndrome protein (WASp) in lymphocytes. XLT usually decreases WASp expression not only in platelets, but also in lymphocytes. However, there were cases, such as the presen...

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Bibliographic Details
Main Authors: Serena Hamanaka, MD, Toru Uchiyama, MD, PhD, Tadashi Kaname, MD, PhD, Motohiro Matsui, MD, Hiroshi Yoshihashi, MD, Atsushi Makimoto, MD, PhD, Yuki Yuza, MD, Akira Ishiguro, MD
Format: Article
Language:English
Published: Elsevier 2024-12-01
Series:Journal of Pediatrics: Clinical Practice
Subjects:
X-linked thrombocytopenia
Wiskott-Aldrich syndrome protein
novel variant
lymphocyte
Online Access:http://www.sciencedirect.com/science/article/pii/S2950541024000346
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