Tingting Yang, Rongrong Chen, Mingming Zhang, Ruirui Jing, Jia Geng, Guoqing Wei, Yi Luo, Pingnan Xiao, Ruimin Hong, Jingjing Feng, Shan Fu, Houli Zhao, Jiazhen Cui, Simao Huang, He Huang, Yongxian Hu
Hemophagocytic lymphohistiocytosis (HLH) is a severe hyperinflammatory disease characterized by familial and acquired forms. Here, we present the case of a 26-year-old male patient with relapsed/refractory peripheral T-cell lymphoma and concurrent HLH. Whole-exon sequencing revealed germline mutations associated with HLH, including those in critical genes such as CD27 and UNC13D and other germline heterozygous variants ( NOTCH2, NOTCH3, IL2RA, TYK2, AGL, CFD , and F13A1 ). CD107a analyses consistently demonstrated impaired degranulation of cytotoxic T-lymphocytes and natural killer (NK) cells...
2024: Cell Transplantation