Novel mutations of STXBP2 and LYST associated with adult haemophagocytic lymphohistiocytosis with Epstein-Barr virus infection: a case report
Novel mutations of STXBP2 and LYST associated with adult haemophagocytic lymphohistiocytosis with Epstein-Barr virus infection: a case report
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STXBP2 和 LYST 的新突变与 Epstein-Barr 病毒感染成人噬血细胞淋巴组织细胞增多症相关：病例报告
DOI：
10.1186/s12881-019-0765-3
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发表时间：
2019-02
影响因子：
--
通讯作者：
Yang Yang
中科院分区：
文献类型：
--
作者：
Lingshuang Sheng;Wei Zhang;Jia Gu;Kefeng Shen;Hui Luo;Yang Yang
背景：噬血细胞性淋巴组织细胞增生症是一种由原发性或继发性炎症性疾病引起的危及生命的疾病。典型的症状包括持续发热，脾肿大，血细胞减少和血清铁蛋白的显着elevation. Case介绍：我们报告一个30岁的中国女性患者被诊断为慢性活动性EB病毒感染超过9个月前，并已提出皮肤淋巴组织增生性疾病模仿牛痘样水肿和随后的噬血细胞性淋巴组织细胞增生症。结论：本研究首次发现成人HLH患者存在STXBP2（c.592A> C，p.Thr198Pro）和LYST（c.830A> T，p.His277Leu）双基因杂合突变，并伴有EB病毒感染。这也可能是第一个多基因模型报告，因为其他突变基因的致病性仍然不清楚。我们还进行了深入的两代系谱分析，以进一步说明这种情况下的遗传模式。
Background:Haemophagocytic lymphohistiocytosis is a life-threatening disease resulting from primary or secondary hyper-inflammatory disorders. The typical symptoms include persistent fever, splenomegaly, cytopenia and significant elevation of serum ferritin.Case presentation:We report a 30-year-old Chinese female patient who was diagnosed with chronic active Epstein-Barr virus infection more than 9 months prior and has since been presenting with cutaneous lymphoproliferative disorders mimicking hydroa vacciniforme and subsequent haemophagocytic lymphohistiocytosis. Exome sequencing suggested novel digenic heterozygous STXBP2 (c.592A > C, p.Thr198Pro) and LYST (c.830A > T, p.His277Leu) mutations.Conclusions:This is the first case report in which adult HLH was associated with novel digenic mutations of STXBP2 and LYST combined with Epstein-Barr virus infection. It could also be the first polygenic model report, given that the pathogenicity of other mutated genes still remains unclear. We additionally conducted an in-depth, two-generation pedigree analysis to further illustrate the mode of inheritance in this case.
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影响因子：
12.8
作者：
Olin, Rebecca L.;Nichols, Kim E.;Naghashpour, Mojdeh;Wasik, Mariusz;Shelly, Brenda;Stadtmauer, Edward A.;Vogl, Dan T.
通讯作者：
Vogl, Dan T.
影响因子：
7.3
作者：
Al-Herz W;Bousfiha A;Casanova JL;Chatila T;Conley ME;Cunningham-Rundles C;Etzioni A;Franco JL;Gaspar HB;Holland SM;Klein C;Nonoyama S;Ochs HD;Oksenhendler E;Picard C;Puck JM;Sullivan K;Tang ML
通讯作者：
Tang ML
DOI：
10.1007/s00262-001-0246-2
发表时间：
2002-03
期刊：
Cancer Immunology, Immunotherapy
影响因子：
--
作者：
M. Hagihara;B. Gansuvd;Y. Ueda;T. Tsuchiya;Aya Masui;K. Tazume;H. Inoue;S. Kato;T. Hotta
通讯作者：
M. Hagihara;B. Gansuvd;Y. Ueda;T. Tsuchiya;Aya Masui;K. Tazume;H. Inoue;S. Kato;T. Hotta
用于难治性爱泼斯坦 - 巴尔病毒相关的胞菌细胞淋巴淋巴结症的PEG-ASPARGASE和DEP方案组合疗法。
影响因子：
28.5
作者：
Wang J;Wang Y;Wu L;Zhang J;Lai W;Wang Z
通讯作者：
Wang Z
影响因子：
3.5
作者：
zur Stadt, U;Schmidt, S;Hennies, HC
通讯作者：
Hennies, HC