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

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

Journal of Pediatrics: Clinical Practice (Dec 2024)

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

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

Affiliations

Serena Hamanaka, MD: Department of General Pediatrics, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan; Reprint requests: Serena Hamanaka, MD, Department of General Pediatrics, Tokyo Metropolitan Children's Medical Center, 2-8-29 Musashidai, Fuchu, Tokyo 183-8561, Japan.
Toru Uchiyama, MD, PhD: Department of Human Genetics, National Center for Child Health and Development, Tokyo, Japan
Tadashi Kaname, MD, PhD: Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan
Motohiro Matsui, MD: Department of Hematology/Oncology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan
Hiroshi Yoshihashi, MD: Department of Clinical Genetics, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan
Atsushi Makimoto, MD, PhD: Department of Hematology/Oncology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan
Yuki Yuza, MD: Department of Hematology/Oncology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan
Akira Ishiguro, MD: Center for Postgraduate Education and Training, National Center for Child Health and Development, Tokyo, Japan

Journal volume & issue: Vol. 14
p. 200128

Abstract

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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 present one, in which WASp was expressed normally in lymphocytes and absent only in platelets. Our finding suggests that it is of greater diagnostic sensitivity to perform an expression analysis of WASp in both platelets and lymphocytes when XLT is suspected.

Published in Journal of Pediatrics: Clinical Practice

ISSN: 2950-5410 (Online)
Publisher: Elsevier
Country of publisher: United States
LCC subjects: Medicine: Pediatrics
Website: https://www.sciencedirect.com/journal/the-journal-of-pediatrics-clinical-practice

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