title: Familial hemophagocytic lymphohistiocytosis type 3 diagnosed at school age: a case report.
abstract: 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.
authors.affiliation: *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.
authors.forename: Emma C
authors.initials: EC
authors.lastname: Manno
authors.forename: Irene
authors.initials: I
authors.lastname: Salfa
authors.forename: Paolo
authors.initials: P
authors.lastname: Palma
authors.forename: Alice
authors.initials: A
authors.lastname: Bertaina
authors.forename: Alessandra
authors.initials: A
authors.lastname: Lombardi
authors.forename: Francesca
authors.initials: F
authors.lastname: Moretta
authors.forename: Maria L
authors.initials: ML
authors.lastname: Coniglio
authors.forename: Elena
authors.initials: E
authors.lastname: Sieni
authors.forename: Maurizio
authors.initials: M
authors.lastname: Aricò
authors.forename: Andrea
authors.initials: A
authors.lastname: Finocchi
mesh_terms: D017668:Age of Onset; D002648:Child; D004252:DNA Mutational Analysis; D006801:Humans; D051359:Lymphohistiocytosis, Hemophagocytic / Q000175:diagnosis* / Q000453:epidemiology* / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics
chemical_list: D008565:Membrane Proteins; C507969:UNC13D protein, human