Characterization of a novel splicing mutation in UNC13D gene through amplicon sequencing: a case report on HLH

• Main Authors: Dongling Liu (Author), Xijiang Hu (Author), Xiwen Jiang (Author), Bo Gao (Author), Cheng Wan (Author), Changying Chen (Author)
• Format: Book
• Published: BMC, 2017-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Hemophagocytic lymphohistiocytosis (HLH) is a rare but fatal disease caused by uncontrolled proliferation of activated lymphocytes and macrophages. Six genes including SH2D1A, PRF1, UNC13D, STX11, STXBP2 and XIAP were reported as causative genes in most cases. Case presentation H...