Clinical and Molecular Characteristics of Chinese Patients With X-Linked Lymphoproliferative Syndrome Type 1
Clinical and Molecular Characteristics of Chinese Patients With X-Linked Lymphoproliferative Syndrome Type 1
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中国X连锁淋巴增殖综合征1型患者的临床和分子特征
DOI：
10.1002/pbc.25126
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发表时间：
2014-11-01
影响因子：
3.2
通讯作者：
Zhao, Xiao-Dong
中科院分区：
文献类型：
--
作者：
An, Yun-Fei;Luo, Xiao-Bo;Zhao, Xiao-Dong
背景X连锁淋巴增殖性综合征1型(XLP1)是一种罕见的遗传性、危及生命的免疫缺陷疾病，由SH2D1A基因突变引起。大约每百万人中就有两到三名男性感染。中国大陆报道的XLP1明确基因突变病例不到10例，目前还没有建立快速诊断方法。结果2例患者发生新的SH2D1A基因突变，3例患者存在已报道的突变。3例患者表现为暴发性传染性单核细胞增多症或噬血细胞淋巴组织细胞增多症，1例患者表现为淋巴瘤。外周血单核细胞上SAP表达缺失或减少。另1例患者表现为独特、反复、非暴发型传染性单核细胞增多症，细胞内SAP蛋白表达呈双峰型。结论中国XLP1患者的总体分子特征和临床表型与以往报道一致。细胞内SAP蛋白的独特双峰表达表明存在一些残留的SAP阳性T细胞，能够对持续的Epstein-Barr病毒感染产生反应，并可以解释该患者相对较轻的临床表型。儿科血癌2014；61：2043-2047。(C)2014年威利期刊公司。
BackgroundX-linked lymphoproliferative syndrome type 1 (XLP1) is a rare inherited, life-threatening immunodeficiency disorder caused by mutations in SH2D1A gene. It affect approximately two to three males per million. Fewer than 10 cases with definite gene mutations have been reported in Chinese mainland and no rapid diagnosis method has been established.ProcedureWe determined the clinical and molecular characteristics of five patients with XLP1. The SH2D1A gene were amplified by PCR and sequenced, the SAP expression was analyzed by flow cytometry.ResultsTwo patients had novel SH2D1A mutations and three had mutations that have been previously reported. Three patients presented with fulminant infectious mononucleosis or hemophagocytic lymphohistiocytosis and one presented with lymphoma. Null or decreased SAP expression on PBMCs was noted. The remaining patient presented with unique, recurrent, nonfulminant infectious mononucleosis and bimodal intracellular SAP protein expression.ConclusionsThe overall molecular characteristics and clinical phenotypes of Chinese patients with XLP1 matched previous reports. The unique bimodal intracellular SAP protein expression indicated the presence of some residual SAP-positive T cells that are able to respond to persistent Epstein-Barr virus infection and could explain the relatively mild clinical phenotype of this patient. Pediatr Blood Cancer 2014;61:2043-2047. (c) 2014 Wiley Periodicals, Inc.