Genetic features of late onset primary hemophagocytic lymphohistiocytosis in adolescence or adulthood.
Genetic features of late onset primary hemophagocytic lymphohistiocytosis in adolescence or adulthood.
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DOI：
10.1371/journal.pone.0107386
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发表时间：
2014
期刊：
影响因子：
3.7
通讯作者：
Ye L
中科院分区：
文献类型：
--
作者：
Wang Y;Wang Z;Zhang J;Wei Q;Tang R;Qi J;Li L;Ye L;Wang J;Ye L
噬血细胞性淋巴组织细胞增生症（HLH）是一种危及生命的疾病，不受控制的免疫激活导致极端炎症。原发性HLH曾被认为是一种仅发生在婴儿或幼儿中的疾病，并且很少在成人中被诊断出来。现在已经知道，患者可以在青春期或成年期发展原发性HLH。本研究纳入了来自中国大陆35家综合医疗机构的252例临床诊断为HLH的青少年和成人患者。对6个HLH相关基因（PRF 1、UNC 13 D、STX 11、STXBP 2、SH 2D 1A和BIRC 4）的全部外显子和侧翼50 bp内含子序列进行测序。我们在18/252（7.1%）的患者中发现了突变，其中PRF 1的变化最常见。迟发性HLH通常以病毒感染和其他诱发因素为特征。我们的结论是迟发性原发性HLH并不像以前认为的那样罕见。老年患者不应延迟接受HLH相关基因检测时，他们被怀疑与HLH。
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.
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