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Title: Remission and relapse of hemophagocytic lymphohistiocytosis in a patient harboring a PRF1 homozygous mutation: a case report. Author: Huang Z, Wang Y, Xie Z, Shen K. Journal: J Pediatr Hematol Oncol; 2014 Jan; 36(1):e5-8. PubMed ID: 23073044. 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.[Abstract] [Full Text] [Related] [New Search]