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: firstname.lastname@example.org).
Received February 10, 2012
Accepted August 29, 2012