Characterization of a novel disease-causing mutation in exon 1 of SH2D1A gene through amplicon sequencing: a case report on HLH

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• 作者：Shiyuan Zhou ; Hongyu Ma ; Bo Gao ; Guangming Fang ; Yi Zeng…
• 关键词：HLH ; SH2D1A ; Amplicon sequencing ; Mutation ; Genetic analysis
• 刊名：BMC Medical Genetics
• 出版年：2017
• 出版时间：December 2017
• 年：2017
• 卷：18
• 期：1
• 全文大小：2496KB
• 刊物主题：Human Genetics; Cytogenetics; Gene Function;
• 出版者：BioMed Central
• ISSN：1471-2350
• 卷排序：18

文摘

BackgroundHemophagocytic lymphohistocytosis (HLH) is a rare but fatal hyperinflammatory syndrome caused by uncontrolled proliferation of activated macrophages and T lymphocytes secreting high amounts of inflammatory cytokines. Genetic defect is a common cause of HLH. HLH is complicated to be diagnosed as there are many common symptoms with other disorders.