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学科主题: 临床医学
题名:
Genetic Features of Late Onset Primary Hemophagocytic Lymphohistiocytosis in Adolescence or Adulthood
作者: 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
发表日期: 2014-09-18
DOI: 10.1371/journal.pone.0107386
卷: 9, 期:9
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Multidisciplinary Sciences
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
项目资助者: 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)
WOS记录号: WOS:000342921200028
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/53070
Appears in Collections:北京大学第三临床医学院_血液内科_期刊论文

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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

Recommended Citation:
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).
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