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

Journal of Pediatric Hematology/Oncology

Volumn 36, Issue 2, 2014, Pages

  Manno, Emma C ^a   Salfa, Irene ^a   Palma, Paolo ^a   Bertaina, Alice ^b   Lombardi, Alessandra ^b   Moretta, Francesca ^b   L Coniglio, Maria ^c   Sieni, Elena ^c   Aricò, Maurizio ^c   Finocchi, Andrea ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b UNIVERSITY OF ROME TOR VERGATA   (Italy)

^c UNIVERSITY OF FLORENCE   (Italy)

Author keywords

cytopenias; EBV; fever; hemophagocytic lymphohistiocytosis

Indexed keywords

ACICLOVIR; ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; C REACTIVE PROTEIN; DEXAMETHASONE; ETOPOSIDE; FERRITIN; FIBRINOGEN; FLUCONAZOLE; GAMMA GLUTAMYLTRANSFERASE; HEMOGLOBIN; IMMUNOGLOBULIN; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; LACTATE DEHYDROGENASE; LYSOSOME ASSOCIATED MEMBRANE PROTEIN; PIPERACILLIN PLUS TAZOBACTAM; TRIACYLGLYCEROL; VIRUS ANTIBODY;

ABDOMINAL RADIOGRAPHY; ALANINE AMINOTRANSFERASE BLOOD LEVEL; ANTIMICROBIAL THERAPY; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; BONE MARROW BIOPSY; CASE REPORT; CERVICAL LYMPHADENOPATHY; CHILD; CYTOPENIA; DISEASE DURATION; ECHOGRAPHY; EPSTEIN BARR VIRUS; ERYTHROPHAGOCYTOSIS; FERRITIN BLOOD LEVEL; FEVER; FIBRINOGEN BLOOD LEVEL; FLOW CYTOMETRY; GAMMA GLUTAMYL TRANSFERASE BLOOD LEVEL; GENE MUTATION; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HEMOGLOBIN BLOOD LEVEL; HEMOPHAGOCYTIC SYNDROME; HEPATOSPLENOMEGALY; HUMAN; HYPERFERRITINEMIA; HYPERTRIGLYCERIDEMIA; HYPOFIBRINOGENEMIA; LACTATE DEHYDROGENASE BLOOD LEVEL; LIVER DYSFUNCTION; MALE; MONOTHERAPY; NATURAL KILLER CELL; NEUTROPHIL COUNT; PANCYTOPENIA; PHYSICAL EXAMINATION; PLEURA EFFUSION; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN EXPRESSION; SCHOOL CHILD; SCREENING TEST; SEROLOGY; THORAX RADIOGRAPHY; TREATMENT DURATION; TREATMENT RESPONSE; TRIACYLGLYCEROL BLOOD LEVEL; UNC13D GENE;

AGE OF ONSET; CHILD; DNA MUTATIONAL ANALYSIS; HUMANS; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; MALE; MEMBRANE PROTEINS;

EID: 84896696169     PISSN: 10774114     EISSN: 15363678     Source Type: Journal    
DOI: 10.1097/MPH.0b013e318292bc7c     Document Type: Article

References (16)

1. Aricò M, Janka G, Fischer A, et al. Hemophagocytic lymphohistiocytosis. Report of 122 children from the International Registry. FHL Study Group of the Histiocyte Society. Leukemia. 1996;10:197-203.
2. Rudd E, Bryceson YT, Zheng C, et al. Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis. J Med Genet. 2008; 45:134-141.
3. Henter JI, Horne A, AricóM, et al. HLH-2004: diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. 2007;48:124-131.
4. de Saint Basile G, Ménasché G, Fischer A. Molecular mechanisms of biogenesis and exocytosis of cytotoxic granules. Nat Rev Immunol. 2010;10:568-579.
5. Henter JI, Samuelsson-Horne A, Arico M, et al. Histocyte Society. Treatment of hemophagocytic lymphohistiocytosis with HLH-94 immunochemotherapy and bone marrow transplantation. Blood. 2002;100:2367-2373.
6. Trottestam H, Horne A, Aricò M, et al. Histiocyte Society. Chemoimmunotherapy for hemophagocytic lymphohistiocytosis: long-term results of the HLH-94 treatment protocol. Blood. 2011;118:4577-4584.
7. Mahlaoui N, Ouachée-Chardin M, de Saint Basile G, et al. Immunotherapy of familial hemophagocytic lymphohistiocytosis with antithymocyte globulins: a single-center retrospective report of 38 patients. Pediatrics. 2007;120:e622-e628.
8. Allen M, De Fusco C, Legrand F, et al. Familial hemophagocytic lymphohistiocytosis: how late can the onset be? Haematologica. 2001;86:499-503.
9. Clementi R, Emmi L, Maccario R, et al. Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations. Blood. 2002;100:2266-2267.
10. Sieni E, Cetica V, Piccin A, et al. Familial hemophagocytic lymphohistiocytosis may present during adulthood: clinical and genetic features of a small series. PLoS One. 2012;7: e44649.
11. Sieni E, Cetica V, Santoro A, et al. Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3.JMed Genet. 2011;48:343-352.
12. Cetica V, Pende D, Griffiths GM, et al. Molecular basis of familial hemophagocytic lymphohistiocytosis. Haematologica. 2010;95:538-541.
13. Imashuku S. Clinical features and treatment strategies of Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis. Crit Rev Oncol Hematol. 2002;44:259-272.
14. Weitzman S. Approach to hemophagocytic syndromes. Hematology Am Soc Hematol Educ Program. 2011;2011:178-183.
15. Jordan MB, Allen CE, Weitzman S, et al. How I treat hemophagocytic lymphohistiocytosis. Blood. 2011;118:4041-4052.
16. Henter JI, Nennesmo I. Neuropathologic findings and neurologic symptoms in twenty-three children with hemophagocytic lymphohistiocytosis. J Pediatr. 1997;130:358-365.