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Familial Hemophagocytic Lymphohistiocytosis Type 3 Diagnosed at School Age: A Case Report

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

Journal of Pediatric Hematology/Oncology: March 2014 - Volume 36 - Issue 2 - p e128–e130
doi: 10.1097/MPH.0b013e318292bc7c
Online Articles: Clinical and Laboratory Observations

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:

Received December 3, 2012

Accepted March 12, 2013

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