Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members
Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members
复制标题
DOI：
10.1182/blood-2004-09-3651
复制
发表时间：
2005-04-15
期刊：
影响因子：
20.3
通讯作者：
Filipovich, AH
中科院分区：
文献类型：
--
作者：
Tabata, Y;Villanueva, J;Filipovich, AH
SH 2D 1A基因突变已被描述在大多数患者的临床综合征的X-连锁淋巴组织增生性疾病（XILP）。由于其临床异质性和缺乏快速诊断实验室检测，XLP的诊断仍然很困难，特别是在没有XLP家族史的患者中。在EB病毒相关噬血细胞性淋巴组织细胞增生症（EBV-HLH）男性患者中，应始终考虑XLLP。应用四色流式细胞术分析正常人淋巴细胞亚群中SH 2D 1 A蛋白的表达。通过检测SH 2D 1A基因突变证实，4例XLP患者中有3例在所有细胞毒性细胞类型中具有最小的细胞内SH 2D 1A蛋白。另1例患者的CD 56（+）自然杀伤（NK）细胞和T淋巴细胞中缺乏细胞内SH 2D 1A蛋白，CD 8（+）T细胞中存在异常双峰模式。与健康对照组相比，SH 2D 1A突变携带者的SH 2D 1A蛋白染色模式减少。11例临床症状与XLP一致的男性，主要是EBV-HLH，其SH 2D 1A蛋白表达模式与健康对照相似。四色流式细胞术提供了诊断信息，可以加速这种致命疾病的鉴定，将其与EBV-HLH的其他原因区分开来。(c)2005年，美国血液学会。
Mutations in the SH2D1A gene have been described in most patients with the clinical syndrome of X-linked lymphoproliferative disease (XILP). The diagnosis of XLP is still difficult given its clinical heterogeneity and the lack of a readily available rapid diagnostic laboratory test, particularly in patients without a family history of XLP. XILP should always be a consideration in males with Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis (EBV-HLH). Four-color flow cytometric anal-ysis was used to establish normal patterns of SH2D1 A protein expression in lymphocyte subsets for healthy subjects. Three of 4 patients with XLP, as confirmed by the detection of mutations in the SH2D1A gene, had minimal intracellular SH2D1A protein in all cytotoxic cell types. The remaining patient lacked intracellular SH2D1A protein in CD56(+) natural killer (NK) and T lymphocytes and had an abnormal bimodal pattern in CD8(+) T cells. Carriers of SH2D1A mutations had decreased SH2D1A protein staining patterns compared with healthy controls. Eleven males with clinical syndromes consistent with XLP, predominantly EBV-HLH, had patterns of SH2D1A protein expression similar to those of healthy controls. Four-color flow cytometry provides diagnostic information that may speed the identification of this fatal disease, differentiating it from other causes of EBV-HLH. (c) 2005 by The American Society of Hematology.