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.
*Unit of Immunology and Infectious Disease, University-Hospital Pediatric Department
†Department of Pediatric Hematology/Oncology, Bambino Gesù Children Hospital, IRCCS, Tor Vergata University, Rome
‡Department of Pediatric Hematology Oncology, Azienda Ospedaliero Universitaria Meyer Children Hospital, Florence, Italy
The authors declare no conflict of interest.
Reprints: Andrea Finocchi, MD, PhD, Unit of Immunology and Infectious Disease, University-Hospital Pediatric Department, Ospedale Pediatrico Bambino Gesù Dipartimento Pediatrico Universitario Ospedaliero, Piazza Sant'Onofrio 4, 00165 Roma, Italy (e-mail: firstname.lastname@example.org).
Received December 3, 2012
Accepted March 12, 2013