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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

Journal of Pediatric Hematology/Oncology: January 2014 - Volume 36 - Issue 1 - p e5–e8
doi: 10.1097/MPH.0b013e318271c963
Online Articles: Clinical and Laboratory Observations

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.

Departments of *Virology Laboratory

Infection, Beijing Children’s Hospital, The Capital Medical University, Beijing, China

The authors declare no conflict of interest.

Supported by grants from Capital Development Foundation of Beijing (No. 2007-2062) and the Training Program for High Level Technological Personnel in the Beijing Health Bureau (No. 2009-3-42).

Reprints: Kunling Shen, MD, Department of Infection, Beijing Children’s Hospital, The Capital Medical University, Beijing 10045, China (e-mail:

Received February 10, 2012

Accepted August 29, 2012

Copyright © 2014 Wolters Kluwer Health, Inc. All rights reserved.