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

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, hypertriglyc...

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Published inJournal of pediatric hematology/oncology Vol. 36; no. 2; p. e128
Main Authors Manno, Emma C, Salfa, Irene, Palma, Paolo, Bertaina, Alice, Lombardi, Alessandra, Moretta, Francesca, Coniglio, Maria L, Sieni, Elena, Aricò, Maurizio, Finocchi, Andrea
Format Journal Article
LanguageEnglish
Published United States 01.03.2014
Subjects
Age of Onset
Child
DNA Mutational Analysis
Humans
Lymphohistiocytosis, Hemophagocytic - diagnosis
Lymphohistiocytosis, Hemophagocytic - epidemiology
Lymphohistiocytosis, Hemophagocytic - genetics
Male
Membrane Proteins - genetics
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Summary: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.
ISSN:1536-3678
DOI:10.1097/MPH.0b013e318292bc7c