Skip Navigation LinksHome > January 2014 - Volume 36 - Issue 1 > Remission and Relapse of Hemophagocytic Lymphohistiocytosis...
Journal of Pediatric Hematology/Oncology:
doi: 10.1097/MPH.0b013e318271c963
Online Articles: Clinical and Laboratory Observations

Remission and Relapse of Hemophagocytic Lymphohistiocytosis in a Patient Harboring a PRF1 Homozygous Mutation: A Case Report

Huang, Zhizhuo MD*; Wang, Yali MSc*; Xie, Zhengde MD*; Shen, Kunling MD

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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.

© 2014 by Lippincott Williams & Wilkins.

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