Absence of expression of the Wiskott-Aldrich syndrome protein in peripheral blood cells of Wiskott-Aldrich syndrome patients.
Absence of expression of the Wiskott-Aldrich syndrome protein in peripheral blood cells of Wiskott-Aldrich syndrome patients.
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Wiskott-Aldrich 综合征患者的外周血细胞中不表达 Wiskott-Aldrich 综合征蛋白。
DOI：
10.1006/clin.1998.4557
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发表时间：
1998
期刊：
影响因子：
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通讯作者：
C. Kinnon
中科院分区：
文献类型：
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作者：
L. MacCarthy;H. Gaspar;Yi;F. Katz;Lisa Thompson;M. Layton;A. M. Jones;C. Kinnon
Wiskott-Aldrich综合征（WAS）是一种x连锁的原发性免疫缺陷，通常与血小板减少症和湿疹有关。WAS非常多变的表型是由于WAS蛋白（WASP）的缺陷造成的，其功能尚不清楚。在许多病例中，已经在WAS基因中发现了致病突变。人们试图将突变的性质与疾病的严重程度联系起来。在本研究中，我们研究了13例WAS患者的突变，并通过免疫印迹分析患者血液样本中WASP的表达。我们发现，尽管严重WAS症状患者的突变性质有很大差异，但没有一个表达这种蛋白质。然而，在1例轻度临床表型的患者中检测到WASP表达。这种分析可以作为基因型分析之前诊断WAS的初始筛选程序。
Wiskott-Aldrich syndrome (WAS) is an X-linked primary immunodeficiency that is usually associated with thrombocytopenia and eczema. The very variable phenotype of WAS results from defects in the WAS protein (WASP), the function of which is not well understood. In many cases causative mutations have now been identified in the WAS gene. Attempts have been made to correlate the nature of the mutations with the severity of the disease. In this study we investigated mutations in 13 patients with WAS and analyzed the expression of WASP in patient blood samples by immunoblot analysis. We found that despite extensive variation in the nature of the mutations in patients with severe WAS symptoms, none express the protein. However, in 1 patient with a mild clinical phenotype WASP expression was detected. Such an analysis could be used as an initial screening procedure for the diagnosis of WAS prior to genotypic analysis.
桥本 S.、冢田 S.、松下 M.、宫胁 T.、新田 Y.、八千江 A.、小林 S.、岩田 T.、早川 H.、松冈 H.、
DOI：
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发表时间：
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