Department of Pediatrics, School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, Kanazawa, Japan.
Pediatr Blood Cancer. 2014 Apr;61(4):746-8. doi: 10.1002/pbc.24787. Epub 2013 Sep 21.
X-linked thrombocytopenia (XLT) is caused by mutations in the WAS gene and characterized by thrombocytopenia with minimal or no immunodeficiency. Patients with XLT usually exhibit persistent thrombocytopenia, and intermittent thrombocytopenia has been described only in two families. Here, we report a patient with intermittent XLT carrying a novel missense mutation (Ala56Thr). He showed residual expression of Wiskott-Aldrich syndrome protein in the lymphocytes and platelets. There appeared to be an association between normal platelet numbers and a post infectious state. Our findings further support the importance of analysis of Wiskott-Aldrich syndrome protein in male patients who exhibit fluctuating courses of thrombocytopenia.
X 连锁血小板减少症（XLT）是由 WAS 基因突变引起的，其特征为血小板减少症，伴有或不伴有轻微免疫缺陷。XLT 患者通常表现为持续性血小板减少症，间歇性血小板减少症仅在两个家族中描述过。在这里，我们报告了一名携带新型错义突变（Ala56Thr）的间歇性 XLT 患者。他的淋巴细胞和血小板中存在 Wiskott-Aldrich 综合征蛋白的残留表达。血小板数量正常似乎与感染后状态有关。我们的发现进一步支持了对表现出波动性血小板减少症的男性患者进行 Wiskott-Aldrich 综合征蛋白分析的重要性。
