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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| Format: | Article |
| Language: | English |
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Elsevier
2024-12-01
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| Series: | Journal of Pediatrics: Clinical Practice |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2950541024000346 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Serena Hamanaka, MD |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-3dafd6dba22f46859e9e68ef6f1112e6 |
| institution | OA Journals |
| issn | 2950-5410 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Journal of Pediatrics: Clinical Practice |
| spelling | doaj-art-3dafd6dba22f46859e9e68ef6f1112e62025-08-20T02:35:50ZengElsevierJournal of Pediatrics: Clinical Practice2950-54102024-12-011420012810.1016/j.jpedcp.2024.200128X-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 LiteratureSerena Hamanaka, MD0Toru Uchiyama, MD, PhD1Tadashi Kaname, MD, PhD2Motohiro Matsui, MD3Hiroshi Yoshihashi, MD4Atsushi Makimoto, MD, PhD5Yuki Yuza, MD6Akira Ishiguro, MD7Department 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.Department of Human Genetics, National Center for Child Health and Development, Tokyo, JapanDepartment of Genome Medicine, National Center for Child Health and Development, Tokyo, JapanDepartment of Hematology/Oncology, Tokyo Metropolitan Children's Medical Center, Tokyo, JapanDepartment of Clinical Genetics, Tokyo Metropolitan Children's Medical Center, Tokyo, JapanDepartment of Hematology/Oncology, Tokyo Metropolitan Children's Medical Center, Tokyo, JapanDepartment of Hematology/Oncology, Tokyo Metropolitan Children's Medical Center, Tokyo, JapanCenter for Postgraduate Education and Training, National Center for Child Health and Development, Tokyo, JapanWe 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.http://www.sciencedirect.com/science/article/pii/S2950541024000346X-linked thrombocytopeniaWiskott-Aldrich syndrome proteinnovel variantlymphocyte |
| spellingShingle | 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 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 Journal of Pediatrics: Clinical Practice X-linked thrombocytopenia Wiskott-Aldrich syndrome protein novel variant lymphocyte |
| title | 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 |
| title_full | 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 |
| title_fullStr | 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 |
| title_full_unstemmed | 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 |
| title_short | 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 |
| title_sort | 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 |
| topic | X-linked thrombocytopenia Wiskott-Aldrich syndrome protein novel variant lymphocyte |
| url | http://www.sciencedirect.com/science/article/pii/S2950541024000346 |
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