fHLH: becoming a blended family

Blood. 2014 Aug 21;124(8):1210-1. doi: 10.1182/blood-2014-06-582791.

Abstract

In this issue of Blood, Zhang et al from Cincinnati Children’s Hospital report the occurrence of presumably synergistic single heterozygous mutations in two genes involved in cytotoxic function of lymphocytes and natural killer (NK) cells in patients with hemophagocytic lymphohistiocytosis (HLH), representing a previously unrecognized form of inheritance for this condition.

Publication types

  • Comment

MeSH terms

  • Cell Degranulation*
  • Epistasis, Genetic*
  • Female
  • Humans
  • Lymphocytes / immunology*
  • Lymphohistiocytosis, Hemophagocytic*
  • Lysosomal-Associated Membrane Protein 1*
  • Male
  • Models, Genetic*
  • Mutation*
  • Perforin
  • Pore Forming Cytotoxic Proteins*

Substances

  • Lysosomal-Associated Membrane Protein 1
  • PRF1 protein, human
  • Pore Forming Cytotoxic Proteins
  • Perforin