TY - JOUR
T1 - Familial hemophagocytic lymphohistiocytosis type 3 diagnosed at school age
T2 - A case report
AU - Manno, Emma C.
AU - Salfa, Irene
AU - Palma, Paolo
AU - Bertaina, Alice
AU - Lombardi, Alessandra
AU - Moretta, Francesca
AU - L. Coniglio, Maria
AU - Sieni, Elena
AU - Aricò, Maurizio
AU - Finocchi, Andrea
PY - 2014/3
Y1 - 2014/3
N2 - 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.
AB - 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.
KW - cytopenias
KW - EBV
KW - fever
KW - hemophagocytic lymphohistiocytosis
UR - http://www.scopus.com/inward/record.url?scp=84896696169&partnerID=8YFLogxK
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U2 - 10.1097/MPH.0b013e318292bc7c
DO - 10.1097/MPH.0b013e318292bc7c
M3 - Article
C2 - 23669735
AN - SCOPUS:84896696169
VL - 36
JO - Journal of Pediatric Hematology/Oncology
JF - Journal of Pediatric Hematology/Oncology
SN - 1077-4114
IS - 2
ER -