Remission and relapse of hemophagocytic lymphohistiocytosis in a patient harboring a PRF1 homozygous mutation: a case report

J Pediatr Hematol Oncol. 2014 Jan;36(1):e5-8. doi: 10.1097/MPH.0b013e318271c963.

Abstract

The aim of this paper was to describe a case of familial hemophagocytic lymphohistiocytosis (HLH) in a pediatric patient with a PRF1 homozygous mutation. An 8-year-old boy diagnosed with HLH was in remission after undergoing nonspecific treatment; however, merely 2 months later, he was presented at our hospital with a relapse of HLH. His genetic analysis showed that he had a homozygous mutation c.1066C>T in the PRF1 gene. Timely distinction of primary HLH from secondary HLH is critical.

Publication types

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

MeSH terms

  • Child
  • Diagnosis, Differential
  • Homozygote
  • Humans
  • Lymphohistiocytosis, Hemophagocytic / diagnosis
  • Lymphohistiocytosis, Hemophagocytic / genetics*
  • Lymphohistiocytosis, Hemophagocytic / therapy*
  • Male
  • Perforin
  • Pore Forming Cytotoxic Proteins / genetics*
  • Recurrence
  • Remission Induction

Substances

  • PRF1 protein, human
  • Pore Forming Cytotoxic Proteins
  • Perforin