Recovery of natural killer cell cytotoxicity in a p.A91V perforin homozygous patient following severe haemophagocytic lymphohistiocytosis

Br J Haematol. 2020 Aug;190(3):458-461. doi: 10.1111/bjh.16660. Epub 2020 Apr 27.
No abstract available

Keywords: A91V.

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Epstein-Barr Virus Infections / complications
  • Ferritins / blood
  • Fibrinogen / analysis
  • Hepatitis / etiology
  • Homozygote
  • Humans
  • Killer Cells, Natural / immunology*
  • Loss of Function Mutation
  • Lymphohistiocytosis, Hemophagocytic / etiology
  • Lymphohistiocytosis, Hemophagocytic / immunology*
  • Male
  • Mutation, Missense
  • Perforin / genetics*
  • Perforin / immunology
  • Young Adult

Substances

  • PRF1 protein, human
  • Perforin
  • Fibrinogen
  • Ferritins