血小板CD40L缺失可识别患有X连锁高IgM综合征的患者。
Absence of platelet CD40L identifies patients with X-linked hyper IgM syndrome.
作者信息
Inwald D P, Peters M J, Walshe D, Jones A, Davies E G, Klein N J
机构信息
Portex Department of Anaesthesia, Intensive Therapy and Respiratory Medicine and Immunobiology Unit, Institute of Child Health, London, UK.
出版信息
Clin Exp Immunol. 2000 Jun;120(3):499-502. doi: 10.1046/j.1365-2249.2000.01235.x.
Abstract
CD40 ligand (CD40L), a membrane protein expressed on activated T cells, plays a pivotal role in B cell proliferation and differentiation. Mutations in the CD40L gene are associated with a rare immunodeficiency state, X-linked hyper IgM syndrome (XLHIGM). Recently, platelets have been described as capable of expressing CD40L within minutes of stimulation. We have developed a rapid technique to determine expression of CD40L on activated platelets by flow cytometry in whole blood. We have demonstrated that this technique is useful in neonatal screening, in rapid diagnosis and in determining reconstitution by donor bone marrow post-transplantation.
摘要
CD40配体（CD40L）是一种在活化T细胞上表达的膜蛋白，在B细胞增殖和分化中起关键作用。CD40L基因突变与一种罕见的免疫缺陷状态——X连锁高IgM综合征（XLHIGM）相关。最近，有研究表明血小板在受到刺激后几分钟内就能表达CD40L。我们开发了一种快速技术，通过流式细胞术检测全血中活化血小板上CD40L的表达。我们已经证明，该技术在新生儿筛查、快速诊断以及确定移植后供体骨髓的造血重建情况方面很有用。
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