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成人噬血细胞性淋巴组织细胞增生症种系变异的鉴定

Identification of germline variants in adults with hemophagocytic lymphohistiocytosis.

作者信息

Miller Peter G, Niroula Abhishek, Ceremsak John J, Gibson Christopher J, Taylor Martin S, Birndt Sebastian, Perner Florian, Arnason Jon, Sperling Adam S, Agrawal Mridul, Schram Alison M, Nikiforow Sarah, Pihan German, Hasserjian Robert P, Aster Jon C, La Rosée Paul, Morgan Elizabeth A, Berliner Nancy, Ebert Benjamin L

机构信息

Department of Medical Oncology, Dana-Farber Cancer Institute, and.

Division of Hematology, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA.

出版信息

Blood Adv. 2020 Mar 10;4(5):925-929. doi: 10.1182/bloodadvances.2019001272.

DOI:10.1182/bloodadvances.2019001272
PMID:32150605
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7065469/
Abstract

Some germline variants are predicted to disrupt protein function in HLH-associated genes. Such variants are neither enriched in adult-onset HLH nor associated with specific clinical or laboratory features of HLH.

摘要

一些种系变体预计会破坏HLH相关基因中的蛋白质功能。这些变体在成人发病的HLH中既不富集，也与HLH的特定临床或实验室特征无关。

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本文引用的文献

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Front Immunol. 2019 Mar 7;10:395. doi: 10.3389/fimmu.2019.00395. eCollection 2019.
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How good are pathogenicity predictors in detecting benign variants?致病性预测因子在检测良性变异方面有多准确？
PLoS Comput Biol. 2019 Feb 11;15(2):e1006481. doi: 10.1371/journal.pcbi.1006481. eCollection 2019 Feb.
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Analysis of protein-coding genetic variation in 60,706 humans.对60706名人类的蛋白质编码基因变异进行分析。
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Advances in the pathogenesis of primary and secondary haemophagocytic lymphohistiocytosis: differences and similarities.原发性和继发性噬血细胞性淋巴组织细胞增生症发病机制的研究进展：差异与相似之处。
Br J Haematol. 2016 Jul;174(2):203-17. doi: 10.1111/bjh.14147. Epub 2016 Jun 5.
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Polygenic mutations in the cytotoxicity pathway increase susceptibility to develop HLH immunopathology in mice.细胞毒性通路中的多基因突变增加了小鼠发生 HLH 免疫病理学的易感性。
Blood. 2016 Apr 28;127(17):2113-21. doi: 10.1182/blood-2015-12-688960. Epub 2016 Feb 10.
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