IR@PKUHSC  > 北京大学第三临床医学院  > 血液内科
学科主题临床医学
Genetic Features of Late Onset Primary Hemophagocytic Lymphohistiocytosis in Adolescence or Adulthood
Wang, Yini1; Wang, Zhao1; Zhang, Jia1; Wei, Qing1; Tang, Ran1; Qi, Junyuan2,3; Li, Lihong4; Ye, Liping5; Wang, Jijun6; Ye, Ling7
刊名PLOS ONE
2014-09-18
DOI10.1371/journal.pone.0107386
9期:9
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Multidisciplinary Sciences
资助者National Natural Science Fund, China ; Medical Development Research Foundation of the Capital, China ; Scientific Research Foundation of Beijing Friendship Hospital, China ; Beijing Talent Cultivation Plan (D) ; National Natural Science Fund, China ; Medical Development Research Foundation of the Capital, China ; Scientific Research Foundation of Beijing Friendship Hospital, China ; Beijing Talent Cultivation Plan (D)
研究领域[WOS]Science & Technology - Other Topics
关键词[WOS]LINKED LYMPHOPROLIFERATIVE SYNDROME ; PERFORIN GENE ; MUTATIONS ; PHENOTYPE ; GENOTYPE ; MUNC13-4 ; DEFECTS ; DISEASE ; PRF1
英文摘要

Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening condition of uncontrolled immune activation leading to extreme inflammation. Primary HLH was once believed to be a disease that occurred only in infancy or young children, and was rarely diagnosed in adults. It is now understood that patients can develop primary HLH in their adolescence or adulthood. This study included 252 adolescent and adult patients with a clinical diagnosis of HLH from 35 general medical institutions across mainland China. All exons and 50 bp of flanking intronic sequence of six HLH-related genes (PRF1, UNC13D, STX11, STXBP2, SH2D1A, and BIRC4) were sequenced in these patients. We identified mutations in 18/252 (7.1%) of the patients, with changes in PRF1 being most common. Late-onset HLH often features viral infection and other predisposing factors. We conclude that late-onset primary HLH is not as rare as previously thought. Older patients should not be delayed to receive HLH-related genes testing when they are suspected with HLH.

语种英语
所属项目编号81270653 ; 2009-1032 ; YYQDKT2011-6
资助者National Natural Science Fund, China ; Medical Development Research Foundation of the Capital, China ; Scientific Research Foundation of Beijing Friendship Hospital, China ; Beijing Talent Cultivation Plan (D) ; National Natural Science Fund, China ; Medical Development Research Foundation of the Capital, China ; Scientific Research Foundation of Beijing Friendship Hospital, China ; Beijing Talent Cultivation Plan (D)
WOS记录号WOS:000342921200028
引用统计
被引频次:9[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/53070
专题北京大学第三临床医学院_血液内科
作者单位1.Capital Med Univ, Beijing Friendship Hosp, Dept Hematol, Beijing, Peoples R China
2.Chinese Acad Med Sci, Inst Hematol, Dept Lymphoma, Tianjin, Peoples R China
3.Chinese Acad Med Sci, Blood Dis Hosp, Tianjin, Peoples R China
4.Capital Med Univ, Dept Hematol, Beijing Chao Yang Hosp, Beijing, Peoples R China
5.Chinese Peoples Liberat Army, Hosp 309, Dept Transplantat, Beijing, Peoples R China
6.Peking Univ, Dept Hematol, Hosp 3, Beijing 100871, Peoples R China
7.Shandong Jining First Peoples Hosp, Dept Hematol, Jinan, Shandong, Peoples R China
推荐引用方式
GB/T 7714
Wang, Yini,Wang, Zhao,Zhang, Jia,et al. Genetic Features of Late Onset Primary Hemophagocytic Lymphohistiocytosis in Adolescence or Adulthood[J]. PLOS ONE,2014,9(9).
APA Wang, Yini.,Wang, Zhao.,Zhang, Jia.,Wei, Qing.,Tang, Ran.,...&Ye, Ling.(2014).Genetic Features of Late Onset Primary Hemophagocytic Lymphohistiocytosis in Adolescence or Adulthood.PLOS ONE,9(9).
MLA Wang, Yini,et al."Genetic Features of Late Onset Primary Hemophagocytic Lymphohistiocytosis in Adolescence or Adulthood".PLOS ONE 9.9(2014).
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