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

• Main Authors: Serena Hamanaka, MD (Author), Toru Uchiyama, MD, PhD (Author), Tadashi Kaname, MD, PhD (Author), Motohiro Matsui, MD (Author), Hiroshi Yoshihashi, MD (Author), Atsushi Makimoto, MD, PhD (Author), Yuki Yuza, MD (Author), Akira Ishiguro, MD (Author)
• Format: Book
• Published: Elsevier, 2024-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...