Journal of Clinical and Cellular Immunology
Open Access
ISSN: 2155-9899
ISSN: 2155-9899
Dongchu Wang
Lu Daopei Hospital, China
Scientific Tracks Abstracts: J Clin Cell Immunol
Hemophagocytic lymphohistiocytosis (HLH) is a rare life-threatening hyperinflammatory disease. This study aimed to investigate the frequencies and distributions of inherited variants in PRF1, UNC13D, STX11, STXBP2, SH2D1A and XIAP genes in Chinese patients with HLH. A total of 265 patients diagnosed with HLH from January 2010 to December 2016 were recruited and analyzed for the six genes. Genetic variants were observed in 87 (32.83%) patients. 36 (13.58%) exhibited variants in UNC13D, 18 (6.79%) exhibited PRF1 variants, 10 (3.77%) had variants in XIAP, 9 (3.40%) exhibited variants in STXBP2, 6 (2.26%) carried variants in SH2D1A, 1 (0.38%) had STX11 variant, and 7 (2.64%) exhibited digenic variants. Monoallelic variants were the most common, which accounted for 49.43% of all cases with variants. All variants were confirmed to be germline-derived. The present study describes a distinct variant spectrum in Chinese patients with HLH, whereby UNC13D is the most frequently mutated gene with missense variants that are the most common molecular defects. The variant profile of Chinese HLH patients is quite different from that of Western cohorts but similar to that of Korean patients, yet showing its own uniqueness. This racial difference shows the role of genetic background in the occurrence of HLH.
Dongchu Wang, having received a BSc Hons Biomedical Science by doing human genome project, became interested in the producing, characterizing, and tracking recombinant protein for pharmaceutical purpose as part of a Master’s degree at the University of Greenwich. During his PhD, he focused on anti-sense drug intracellular trafficking via endocytosis at Greenwich. Since 2017, he has been pursuing his interests combining molecular biology and immunology with the intention of developing new and more efficient immunotherapy for leukemia in Lu Daopei Hospital.
E-mail: eastago@outlook.com