Epstein-Barr virus-associated B-cell lymphoproliferative disorder meeting the definition of CAEBV B cell disease: a case report.
Epstein-Barr virus-associated B-cell lymphoproliferative disorder meeting the definition of CAEBV B cell disease: a case report.
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DOI：
10.1186/s12879-023-08430-6
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发表时间：
2023-07-07
影响因子：
3.7
通讯作者：
Zheng, Miao
中科院分区：
文献类型：
--
作者：
Ma, Yaxian;Bao, Yuhan;Zheng, Miao
关键词：
慢性活动性EB病毒感染（CAEBV）是一种全身性EB病毒阳性淋巴增生性疾病（EBV-LPD），被认为与遗传免疫异常有关，尽管其原因尚不清楚。EBV通常在CAEBV患者的T细胞或NK细胞中检测到，仅在东亚描述的少数病例涉及B细胞，这可能是由于遗传和环境因素的差异。本文报告一例疑似B细胞型CAEBV的16岁男孩。患者有IM样症状持续3个月以上，PB中EBV DNA水平高，B细胞中EBER原位杂交阳性。此外，为了排除潜在的遗传疾病，我们进行了下一代测序（NGS）和全外显子组测序（WES），确定了患者PIK 3CD（E1021 K），ADA（S85 L）和CD 3D（Q140 K）的错义突变，而在其父母和姐姐中未检测到相同的基因突变。然而，在最新的世界卫生组织造血和淋巴组织肿瘤分类中没有B细胞型CAEBV的诊断，因此我们最终将该患者诊断为EBV-B-LPD。这项研究显示了一个罕见的情况下，病人符合定义的CAEBV B细胞疾病在东亚。同时，该病例提示错义突变与疾病的发生有关。
Chronic active Epstein-Barr virus infection (CAEBV) is a systemic EBV-positive lymphoproliferative disorder (EBV-LPD) considered to be associated with a genetic immunological abnormality, although its cause is still unclear. EBV is usually detected in T cells or NK cells in CAEBV patients with only a few cases involving B cells described in East Asia, which may be due to differences in genetic and environmental factors. A 16-year-old boy who seemed to be diagnosed as CAEBV of B cell type was studied. The patient had IM-like symptoms persisting for more than 3 months, high levels of EBV DNA in the PB, and positive EBER in situ hybridization in B cells. In addition, to exclude underlying genetic disorders, we performed next-generation sequencing (NGS) and whole-exome sequencing (WES), which identified the missense mutation in PIK3CD (E1021K), ADA (S85L) and CD3D (Q140K) in the patient while no same genetic mutation was detected in his parents and sister. However, there is no diagnosis of CAEBV of B cell type in the most recent World Health Organization classification of tumors of hematopoietic and lymphoid tissues, therefore we finally diagnosed this patient as EBV-B-LPD. This study shows a rare case of a patient meeting the definition of CAEBV B-cell disease in East Asia. Meanwhile, the case indicates that the missense mutation and the disease are related.
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影响因子：
5.2
作者：
Fujiwara S;Nakamura H
通讯作者：
Nakamura H
DOI：
10.3324/haematol.2010.029389
发表时间：
2010-12-01
期刊：
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL
影响因子：
--
作者：
Rohr, Jan;Beutel, Karin;Ehl, Stephan
通讯作者：
Ehl, Stephan
影响因子：
20.3
作者：
Cohen, Jeffrey I.;Jaffe, Elaine S.;Straus, Stephen E.
通讯作者：
Straus, Stephen E.
影响因子：
6.4
作者：
Kimura, H;Morishima, T;Wakiguchi, H
通讯作者：
Wakiguchi, H
Epstein-Barr病毒在活化的PI3Kδ综合征（APDS）免疫缺陷中的敏感性。
影响因子：
7.3
作者：
Carpier JM;Lucas CL
通讯作者：
Lucas CL