Hamanaka Serena, Uchiyama Toru, Kaname Tadashi, Matsui Motohiro, Yoshihashi Hiroshi, Makimoto Atsushi, Yuza Yuki, Ishiguro Akira
Department of General Pediatrics, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
Department of Human Genetics, National Center for Child Health and Development, Tokyo, Japan.
J Pediatr Clin Pract. 2024 Oct 10;14:200128. doi: 10.1016/j.jpedcp.2024.200128. eCollection 2024 Dec.
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.
我们报告了一例X连锁血小板减少症（XLT），其WAS基因存在新变体，淋巴细胞中表达正常量的威斯科特-奥尔德里奇综合征蛋白（WASp）。XLT通常不仅会降低血小板中WASp的表达，还会降低淋巴细胞中WASp的表达。然而，存在一些病例，比如本病例，其中WASp在淋巴细胞中正常表达，仅在血小板中缺失。我们的发现表明，当怀疑患有XLT时，对血小板和淋巴细胞中的WASp进行表达分析具有更高的诊断敏感性。
