Identification of germline variants in adults with hemophagocytic lymphohistiocytosis

Blood Adv. 2020 Mar 10;4(5):925-929. doi: 10.1182/bloodadvances.2019001272.


  1. Some germline variants are predicted to disrupt protein function in HLH-associated genes.

  2. Such variants are neither enriched in adult-onset HLH nor associated with specific clinical or laboratory features of HLH.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Germ Cells
  • Humans
  • Lymphohistiocytosis, Hemophagocytic* / diagnosis
  • Lymphohistiocytosis, Hemophagocytic* / genetics