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1
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HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis
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Ladisch, S.7
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How I treat hemophagocytic lymphohistiocytosis
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Jordan MB, Allen CE, Weitzman S, et al. How I treat hemophagocytic lymphohistiocytosis. Blood 2011; 118:4041-4052.
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Blood
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Jordan, M.B.1
Allen, C.E.2
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4
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82155184541
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Hypomorphic mutations in PRF1 MUNC13-4 and STXBP2 are associated with adult-onset familial hemophagocytic lymphohistiocytosis
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This study describes mutations in PRF1 and other HLH-associated genes found in a large series of adults with suspected or proven HLH.
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Zhang K, Jordan MB, Marsh RA, et al. Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial hemophagocytic lymphohistiocytosis. Blood 2011; 118:5794-5798. This study describes mutations in PRF1 and other HLH-associated genes found in a large series of adults with suspected or proven HLH.
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Blood
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Zhang, K.1
Jordan, M.B.2
Marsh, R.A.3
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5
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82155184553
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Familial hemophagocytic lymphohistiocytosis type 3 FHL3 caused by deep intronic mutation and inversion in UNC13D
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Meeths M, Chiang SC, Wood SM, et al. Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D. Blood 2011; 118:5783-5793.
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Blood
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Meeths, M.1
Chiang, S.C.2
Wood, S.M.3
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6
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79960714121
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Perforin is a critical physiologic regulator of T-cell activation
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Although T cells have been known to be important for the development of HLH this study demonstrates that immune responses in cytotoxic mutant animals are characterized by excessive acute T-cell activation, suggesting that pathways that affect T-cell activation may be important therapeutic targets
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Lykens JE, Terrell CE, Zoller EE, et al. Perforin is a critical physiologic regulator of T-cell activation. Blood 2011; 118:618-626. Although T cells have been known to be important for the development of HLH, this study demonstrates that immune responses in cytotoxic mutant animals are characterized by excessive acute T-cell activation, suggesting that pathways that affect T-cell activation may be important therapeutic targets.
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(2011)
Blood
, vol.118
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Lykens, J.E.1
Terrell, C.E.2
Zoller, E.E.3
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7
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79959242566
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Disruption of MyD88 signaling suppresses hemophagocytic lymphohistiocytosis in mice
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Krebs P, Crozat K, Popkin D, et al. Disruption of MyD88 signaling suppresses hemophagocytic lymphohistiocytosis in mice. Blood 2011; 117:6582-6588.
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Blood
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Krebs, P.1
Crozat, K.2
Popkin, D.3
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2942597667
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Multifactorial risk analysis of bone marrow histiocytic hyperplasia with hemophagocytosis in critically ill medical patients - A postmortem clinicopathologic analysis
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DOI 10.1097/01.CCM.0000127779.24232.15
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Strauss R, Neureiter D, Westenburger B, et al. Multifactorial risk analysis of bone marrow histiocytic hyperplasia with hemophagocytosis in critically ill medical patients: a postmortem clinicopathologic analysis. Crit Care Med 2004; 32:1316-1321. (Pubitemid 38738586)
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Strauss, R.1
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Kirchner, T.5
Hahn, E.G.6
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9
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79958292813
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Hemophagocytosis causes a consumptive anemia of inflammation
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This study is the first article to study the mechanisms and significance of hemophagocytosis, a characteristic pathologic phenomenon seen in HLH. The authors found that continuous infusion of interferon gamma mimicking natural production during infection can cause widespread hemophagocytosis that leads to severe acute anemia in normal mice These studies demonstrate the central role played by tissue macrophages in the development of HLH and suggest that this process may occur in a variety of inflammatory conditions beyond HLH
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Zoller EE, Lykens JE, Terrell CE, et al. Hemophagocytosis causes a consumptive anemia of inflammation. J Exp Med 2011; 208:1203-1214. This study is the first article to study the mechanisms and significance of hemophagocytosis, a characteristic pathologic phenomenon seen in HLH. The authors found that continuous infusion of interferon gamma (mimicking natural production during infection) can cause widespread hemophagocytosis that leads to severe acute anemia in normal mice. These studies demonstrate the central role played by tissue macrophages in the development of HLH and suggest that this process may occur in a variety of inflammatory conditions beyond HLH.
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J. Exp. Med.
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Zoller, E.E.1
Lykens, J.E.2
Terrell, C.E.3
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Repeated TLR9 stimulation results in macrophage activation syndrome-like disease in mice
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Behrens EM, Canna SW, Slade K, et al. Repeated TLR9 stimulation results in macrophage activation syndrome-like disease in mice. J Clin Invest 2011; 121:2264-2277.
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J. Clin. Invest
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Behrens, E.M.1
Canna, S.W.2
Slade, K.3
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11
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Gene expression profiling of peripheral blood mononuclear cells from children with active hemophagocytic lymphohistiocytosis
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Sumegi J, Barnes MG, Nestheide SV, et al. Gene expression profiling of peripheral blood mononuclear cells from children with active hemophagocytic lymphohistiocytosis. Blood 2011; 117:e151-e160.
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Blood
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Sumegi, J.1
Barnes, M.G.2
Nestheide, S.V.3
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12
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79958276203
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Immature cell populations and an erythropoiesis gene-expression signature in systemic juvenile idiopathic arthritis: Implications for pathogenesis
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Hinze CH, Fall N, Thornton S, et al. Immature cell populations and an erythropoiesis gene-expression signature in systemic juvenile idiopathic arthritis: implications for pathogenesis. Arthritis Res Ther 2010; 12:R123.
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Arthritis Res. Ther.
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Hinze, C.H.1
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+ T cells and interferon gamma are essential for the disorder
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DOI 10.1182/blood-2003-10-3413
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Jordan MB, Hildeman D, Kappler J, et al. An animal model of hemophagocytic lymphohistiocytosis (HLH): CD8 T cells and interferon gamma are essential for the disorder. Blood 2004; 104:735-743. (Pubitemid 38970567)
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Blood
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Jordan, M.B.1
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Early diagnostic and prognostic significance of a specific Th1 Th2 cytokine pattern in children with haemophagocytic syndrome
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Tang Y, Xu X, Song H, et al. Early diagnostic and prognostic significance of a specific Th1/Th2 cytokine pattern in children with haemophagocytic syndrome. Br J Haematol 2008; 143:84-91.
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Tang, Y.1
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Evaluation of Th1 Th2 cytokines as a rapid diagnostic tool for severe infection in paediatric haematology oncology patients by the use of cytometric bead array technology
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Tang Y, Liao C, Xu X, et al. Evaluation of Th1/Th2 cytokines as a rapid diagnostic tool for severe infection in paediatric haematology/oncology patients by the use of cytometric bead array technology. Clin Microbiol Infect 2011; 17:1666-1673.
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Tang, Y.1
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Comprehensive analyses and characterization of haemophagocytic lymphohistiocytosis in vietnamese children
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My LT, Lien le B, Hsieh WC, et al. Comprehensive analyses and characterization of haemophagocytic lymphohistiocytosis in Vietnamese children. Br J Haematol 2010; 148:301-310.
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My, L.T.1
Lienle, B.2
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77956508441
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XIAP deficiency: A unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease
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Marsh RA, Madden L, Kitchen BJ, et al. XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease. Blood 2010; 116:1079-1082.
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Marsh, R.A.1
Madden, L.2
Kitchen, B.J.3
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18
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79551644967
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Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 XLP-1 SAP deficiency versus type 2 XLP-2 XIAP deficiency
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This study characterizes the clinical course of a large number of patients with mutations in either of two X chromosome genes associated with XLP and the development of HLH
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Pachlopnik Schmid J, Canioni D, Moshous D, et al. Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency). Blood 2011; 117:1522-1529. This study characterizes the clinical course of a large number of patients with mutations in either of two X chromosome genes associated with XLP and the development of HLH.
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(2011)
Blood
, vol.117
, pp. 1522-1529
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Pachlopnik Schmid, J.1
Canioni, D.2
Moshous, D.3
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19
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78649897442
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Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases
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Rohr J, Beutel K, Maul-Pavicic A, et al. Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases. Haematologica 2010; 95:2080-2087.
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Haematologica
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Rohr, J.1
Beutel, K.2
Maul-Pavicic, A.3
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20
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79960443600
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Human X-linked variable immunodeficiency caused by a hypomorphic mutation in XIAP in association with a rare polymorphism in CD40LG
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Rigaud S, Lopez-Granados E, Siberil S, et al. Human X-linked variable immunodeficiency caused by a hypomorphic mutation in XIAP in association with a rare polymorphism in CD40LG. Blood 2011; 118:252-261.
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Blood
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Rigaud, S.1
Lopez-Granados, E.2
Siberil, S.3
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21
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79953309677
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An international consensus survey of diagnostic criteria for macrophage activation syndrome in systemic juvenile idiopathic arthritis
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Davi S, Consolaro A, Guseinova D, et al. An international consensus survey of diagnostic criteria for macrophage activation syndrome in systemic juvenile idiopathic arthritis. J Rheumatol 2011; 38:764-768.
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Davi, S.1
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22
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79952099330
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Virus-associated hemophagocytic syndrome as a major contributor to death in patients with 2009 influenza A H1N1 infection
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This study describes emerging consensus criteria for the diagnosis of MAS R-HLH in the unique context of juvenile idiopathic arthritis
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Beutel G, Wiesner O, Eder M, et al. Virus-associated hemophagocytic syndrome as a major contributor to death in patients with 2009 influenza A (H1N1) infection. Crit Care 2011; 15:R80. This study describes emerging consensus criteria for the diagnosis of MAS (R-HLH) in the unique context of juvenile idiopathic arthritis.
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Crit. Care
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Beutel, G.1
Wiesner, O.2
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Tierney LM Jr, Thabet A, Nishino H. Case records of the Massachusetts General Hospital. Case 10-2011. A woman with fever, confusion, liver failure, anemia, and thrombocytopenia. N Engl J Med 2011; 364:1259-1270.
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Tierney Jr., L.M.1
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24
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Causes clinical symptoms and outcomes of infectious diseases associated with hemophagocytic lymphohistiocytosis in taiwanese adults
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Tseng YT, ShengWH, Lin BH, et al. Causes, clinical symptoms, and outcomes of infectious diseases associated with hemophagocytic lymphohistiocytosis in Taiwanese adults. J Microbiol Immunol Infect 2011; 44:191-197.
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Tseng, Y.T.1
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Secondary hemophagocytic syndrome in adults: A case series of 18 patients in a single institution and a review of literature
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Shabbir M, Lucas J, Lazarchick J, et al. Secondary hemophagocytic syndrome in adults: a case series of 18 patients in a single institution and a review of literature. Hematol Oncol 2011; 29:100-106.
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What intensivists need to know about hemophagocytic syndrome: An underrecognized cause of death in adult intensive care units
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Okabe, T.1
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Raschke RA, Garcia-Orr R. Hemophagocytic lymphohistiocytosis: a potentially under-recognized association with SIRS, severe sepsis and septic shock in adults-a case series and review of the literature. Chest 2011; 140:933-938.
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Trizzino A, zur Stadt U, Ueda I, et al. Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations. J Med Genet 2008; 45:15-21. (Pubitemid 351158153)
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Jessen B, Faller S, Krempl CD, et al. Major histocompatibility complexdependent cytotoxic T lymphocyte repertoire and functional avidity contribute to strain-specific disease susceptibility after murine respiratory syncytial virus infection. J Virol 2011; 85:10135-10143.
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31
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80055079785
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Chemoimmunotherapy for hemophagocytic lymphohistiocytosis: Long-term results of the HLH-94 treatment protocol
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Despite the fact that a significant fraction of patients with HLH die during the early phases of treatment there are few published data regarding prognostic factors this study provides some of the first data relevant to this issue
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Trottestam H, Horne A, Arico M, et al. Chemoimmunotherapy for hemophagocytic lymphohistiocytosis: long-term results of the HLH-94 treatment protocol. Blood 2011; 118:4577-4584. Despite the fact that a significant fraction of patients with HLH die during the early phases of treatment, there are few published data regarding prognostic factors. This study provides some of the first data relevant to this issue.
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Blood
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Trottestam, H.1
Horne, A.2
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Rate of decline of ferritin in patients with hemophagocytic lymphohistiocytosis as a prognostic variable for mortality
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Lin TF, Ferlic-Stark LL, Allen CE, et al. Rate of decline of ferritin in patients with hemophagocytic lymphohistiocytosis as a prognostic variable for mortality. Pediatr Blood Cancer 2011; 56:154-155.
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Highly elevated ferritin levels and the diagnosis of hemophagocytic lymphohistiocytosis
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DOI 10.1002/pbc.21423
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Allen CE, Yu X, Kozinetz CA, et al. Highly elevated ferritin levels and the diagnosis of hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer 2008; 50:1227-1235. (Pubitemid 351555548)
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Reduced-intensity conditioning haematopoietic cell transplantation for haemophagocytic lymphohistiocytosis: An important step forward
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This study describes the largest series to date of patients with HLH treated with reduced intensity conditioning regimens as part of HCT
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Marsh RA, Jordan MB, Filipovich AH. Reduced-intensity conditioning haematopoietic cell transplantation for haemophagocytic lymphohistiocytosis: an important step forward. Br J Haematol 2011; 154:556-563. This study describes the largest series to date of patients with HLH treated with reduced intensity conditioning regimens as part of HCT.
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Br. J. Haematol.
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Marsh, R.A.1
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