Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations

Blood. 2002 Sep 15;100(6):2266-7. doi: 10.1182/blood-2002-04-1030.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Age of Onset
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Histiocytosis, Non-Langerhans-Cell / diagnosis
  • Histiocytosis, Non-Langerhans-Cell / genetics*
  • Humans
  • Male
  • Membrane Glycoproteins / genetics*
  • Nuclear Family
  • Perforin
  • Point Mutation
  • Pore Forming Cytotoxic Proteins

Substances

  • Membrane Glycoproteins
  • Pore Forming Cytotoxic Proteins
  • Perforin