Open access
Aug 2026
Whole-exome sequencing reveals the genetic landscape and polygenic susceptibility in 1241 patients with clinically suspected hemophagocytic lymphohistiocytosis
Hemophagocytic lymphohistiocytosis (HLH) is a severe immunological disorder characterized by dysregulated immune activation. Pathogenic variants in HLH-causative genes serve as diagnostic criteria and guide treatment decisions. However, known genes do not fully explain the molecular basis of many cases, and the pol...
Yu-Huan Meng, Mao-Ting Shen, Shu-yi Guo et al.
· npj Genomic Medicine · 0 citations