Accuracy of flow cytometric perforin screening for detecting patients with FHL due to PRF1 mutations

Blood. 2015 Oct 8;126(15):1858-60. doi: 10.1182/blood-2015-06-648659.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Child
  • Child, Preschool
  • Female
  • Flow Cytometry / methods*
  • Follow-Up Studies
  • High-Throughput Screening Assays
  • Humans
  • Infant
  • Infant, Newborn
  • Lymphohistiocytosis, Hemophagocytic / diagnosis*
  • Lymphohistiocytosis, Hemophagocytic / genetics
  • Lymphohistiocytosis, Hemophagocytic / metabolism
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Perforin / genetics
  • Perforin / metabolism*
  • Prognosis
  • ROC Curve

Substances

  • PRF1 protein, human
  • Perforin