Article
Search for the potential "second-hit" mechanism underlying the onset of familial hemophagocytic lymphohistiocytosis type 2 by whole-exome sequencing analysis.
Translational research : the journal of laboratory and clinical medicine - 1 Apr 2016
Gao Lili, Dang Xiao, Huang Liang, Zhu Li, Fang Mingyan, Zhang Jianguo, Xu Xun, Zhu Lijun, Li Tongjuan, Zhao Lei, Wei Jia, Zhou Jianfeng
Abstract excerpt
Familial hemophagocytic lymphohistiocytosis type 2 (FHL2), caused by perforin 1 (PRF1), is a genetic disorder of lymphocyte cytotoxicity that usually presents in the first 2 years of life and has a poor prognosis. Late onset of FHL2 has been sporadically reported, and the mechanism is largely unknown. A newly diagnosed FHL2 patient was detected to have compound mutations in both PRF1 alleles and positive...
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