Familial hemophagocytic lymphohistiocytosis type 3 diagnosed at school age: A case report

Emma C. Manno, Irene Salfa, Paolo Palma, Alice Bertaina, Alessandra Lombardi, Francesca Moretta, Maria L. Coniglio, Elena Sieni, Maurizio Aricò, Andrea Finocchi

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Familial hemophagocytic lymphohistiocytosis (HLH) is a rare, life-threatening condition characterized by immune hyperactivation and clinical signs of extreme inflammation. We describe a 7-year-old male who presented with fever resistant to antibiotic therapy, pancytopenia, splenomegaly, hypertriglyceridemia, and hyperferritinemia. Bone marrow aspirate showed hemophagocytosis. Epstein-Barr virus genome was positive in blood. Functional screening showed reduced capacity of cytotoxic degranulation. Mutation analysis of the FHL-related genes revealed compound heterozygous for UNC13D mutations: c. 753+1G>T, and the novel c.544C>T (p.P182S). Patients with a clinical presentation of HLH, even if older than typically seen, should be screened for familial HLH by mutation analysis.

Original languageEnglish
JournalJournal of Pediatric Hematology/Oncology
Issue number2
Publication statusPublished - Mar 2014


  • cytopenias
  • EBV
  • fever
  • hemophagocytic lymphohistiocytosis

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Oncology
  • Hematology


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