Article
Prevalence of type 5 familial hemophagocytic lymphohistiocytosis in Korea and novel mutations in STXBP2.
Clinical genetics - 1 Feb 2016
Seo J Y, Lee K-O, Yoo K-H, Sung K-W, Koo H H, Kim S-H, Kang H J, Park K-D, Shin H Y, Baek H-J, Kook H, Lyu C J, Song J-S, Lee M J, Kim J-Y, Lim Y-T, Koh K-N, Im H J, Seo J J, Kim H-J
Abstract excerpt
Familial hemophagocytic lymphohistiocytosis (F-HLH or FHL) is a potentially fatal immune dysregulation syndrome with a heterogeneous genetic background. Most recently, STXBP2 has been identified as the causative gene of type 5 FHL (FHL5) with a worldwide distribution. In this study, we investigated the prevalence of FHL5 in Korea. About 50 Korean pediatric patients with HLH who lacked pathogenic mutations in...
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