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.

Manno, E., Salfa, I., Palma, P., Bertaina, A., Lombardi, A., Moretta, F., et al. (2013). Familial Hemophagocytic Lymphohistiocytosis Type 3 Diagnosed at School Age: A Case Report. JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, 36(2), 128-130.

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

Palma, P;FINOCCHI, ANDREA
2013-01-01

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.
2013
Pubblicato
Rilevanza internazionale
Articolo
Sì, ma tipo non specificato
Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA
English
Con Impact Factor ISI
hemophagocytic lymphohistiocytosis, EBV, fever, cytopenias
Manno, E., Salfa, I., Palma, P., Bertaina, A., Lombardi, A., Moretta, F., et al. (2013). Familial Hemophagocytic Lymphohistiocytosis Type 3 Diagnosed at School Age: A Case Report. JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, 36(2), 128-130.
Manno, E; Salfa, I; Palma, P; Bertaina, A; Lombardi, A; Moretta, F; Sieni, E; Aricò, M; Finocchi, A
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/101260
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