Blood Reviews
Volume 21, Issue 5 , Pages 245-253 , September 2007

Hemophagocytic syndromes

References 

  1. Janka GE. Familial hemophagocytic lymphohistiocytosis. Eur J Pediatr. 1983;140:221–230
  2. Arico 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
  3. Allen M, De Fusco C, Legrand F, et al. Familial hemophagocytic lymphohistiocytosis: how late can the onset be?. Haematologica. 2001;86:499–503
  4. 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
  5. Risdall RJ, McKenna RW, Nesbit ME, et al. Virus-associated hemophagocytic syndrome: a benign histiocytic proliferation distinct from malignant histiocytosis. Cancer. 1979;44:993–1002
  6. Janka G, Imashuku S, Elinder G, Schneider M, Henter JI. Infection- and malignancy-associated hemophagocytic syndromes. Secondary hemophagocytic lymphohistiocytosis. Hematol Oncol Clin North Am. 1998;12:435–444
  7. Fisman DN. Hemophagocytic syndromes and infection. Emerg Infect Dis. 2000;6:601–608
  8. Gagnaire MH, Galambrun C, Stephan JL. Hemophagocytic syndrome: A misleading complication of visceral leishmaniasis in children–a series of 12 cases. Pediatrics. 2000;106:E58
  9. Janka G. Familial and acquired hemophagocytic lymphohistiocytosis. Eur J Pediatr. 2006;Epub ahead of print
  10. Arico M, Nespoli L, Maccario R, et al. Natural cytotoxicity impairment in familial haemophagocytic lymphohistiocytosis. Arch Dis Child. 1988;63:292–296
  11. Henter JI, Ehrnst A, Andersson J, Elinder G. Familial hemophagocytic lymphohistiocytosis and viral infections. Acta Paediatr. 1993;82:369–372
  12. Jaffe ES, Costa J, Fauci AS, Cossman J, Tsokos M. Malignant lymphoma and erythrophagocytosis simulating malignant histiocytosis. Am J Med. 1983;75:741–749
  13. Falini B, Pileri S, De Solas I, et al. Peripheral T-cell lymphoma associated with hemophagocytic syndrome. Blood. 1990;75:434–444
  14. Takahashi N, Chubachi A, Miura I, Nakamura S, Miura AB. Lymphoma-associated hemophagocytic syndrome in Japan. Rinsho Ketsueki. 1999;40:542–549
  15. Quintanilla-Martinez L, Kumar S, Fend F, et al. Fulminant EBV(+) T-cell lymphoproliferative disorder following acute/chronic EBV infection: a distinct clinicopathologic syndrome. Blood. 2000;96:443–451
  16. Henter JI, Arico M, Elinder G, Imashuku S, Janka G. Familial hemophagocytic lymphohistiocytosis. Primary hemophagocytic lymphohistiocytosis. Hematol Oncol Clin North Am. 1998;12:417–433
  17. Komp DM, McNamara J, Buckley P. Elevated soluble interleukin-2 receptor in childhood hemophagocytic histiocytic syndromes. Blood. 1989;73:2128–2132
  18. Schneider EM, Lorenz I, Muller-Rosenberger M, Steinbach G, Kron M, Janka-Schaub GE. Hemophagocytic lymphohistiocytosis is associated with deficiencies of cellular cytolysis but normal expression of transcripts relevant to killer-cell-induced apoptosis. Blood. 2002;100:2891–2898
  19. Henter JI, Elinder G, Soder O, Hansson M, Andersson B, Andersson U. Hypercytokinemia in familial hemophagocytic lymphohistiocytosis. Blood. 1991;78:2918–2922
  20. Jordan MB, Hildeman D, Kappler J, Marrack P. An animal model of hemophagocytic lymphohistiocytosis (HLH): CD8+ T cells and interferon gamma are essential for the disorder. Blood. 2004;104:735–743
  21. Kaito K, Kobayashi M, Katayama T, et al. Prognostic factors of hemophagocytic syndrome in adults: analysis of 34 cases. Eur J Haematol. 1997;59:247–253
  22. Takahashi N, Chubachi A, Kume M, et al. A clinical analysis of 52 adult patients with hemophagocytic syndrome: the prognostic significance of the underlying diseases. Int J Hematol. 2001;74:209–213
  23. Stinchcombe J, Bossi G, Griffiths GM. Linking albinism and immunity: the secrets of secretory lysosomes. Science. 2004;305:55–59
  24. Stepp SE, Dufourcq-Lagelouse R, Le Deist F, et al. Perforin gene defects in familial hemophagocytic lymphohistiocytosis. Science. 1999;286:1957–1959
  25. Feldmann J, Callebaut I, Raposo G, et al. Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). Cell. 2003;115:461–473
  26. zur Stadt U, Schmidt S, Kasper B, et al. Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11. Hum Mol Genet. 2005;14:827–834
  27. Ohadi M, Lalloz MR, Sham P, et al. Localization of a gene for familial hemophagocytic lymphohistiocytosis at chromosome 9q21.3-22 by homozygosity mapping. Am J Hum Genet. 1999;64:165–171
  28. Zur Stadt U, Beutel K, Kolberg S, et al. Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A. Hum Mutat. 2006;27:62–68
  29. Nagle DL, Karim MA, Woolf EA, et al. Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. Nat Genet. 1996;14:307–311
  30. Menasche G, Pastural E, Feldmann J, et al. Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. Nat Genet. 2000;25:173–176
  31. Coffey AJ, Brooksbank RA, Brandau O, et al. Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. Nat Genet. 1998;20:129–135
  32. Hadchouel M, Prieur AM, Griscelli C. Acute hemorrhagic, hepatic, and neurologic manifestations in juvenile rheumatoid arthritis: possible relationship to drugs or infection. J Pediatr. 1985;106:561–566
  33. Ravelli A. Macrophage activation syndrome. Curr Opin Rheumatol. 2002;14:548–552
  34. Ramanan A, Laxer R, Schneider R. Secondary hemophagocytic syndromes associated with rheumatic diseases. In:  Weitzman S,  Egeler RM editor. Histiocytic disorders of children and adults. Cambridge: Cambridge University Press; 2005;p. 380–395
  35. Emmenegger U, Schaer DJ, Larroche C, Neftel KA. Haemophagocytic syndromes in adults: current concepts and challenges ahead. Swiss Med Wkly. 2005;135:299–314
  36. Ravelli A, Magni-Manzoni S, Pistorio A, et al. Preliminary diagnostic guidelines for macrophage activation syndrome complicating systemic juvenile idiopathic arthritis. J Pediatr. 2005;146:598–604
  37. Stephan JL, Kone-Paut I, Galambrun C, Mouy R, Bader-Meunier B, Prieur AM. Reactive haemophagocytic syndrome in children with inflammatory disorders. A retrospective study of 24 patients. Rheumatology (Oxford). 2001;40:1285–1292
  38. Grom AA, Villanueva J, Lee S, Goldmuntz EA, Passo MH, Filipovich A. Natural killer cell dysfunction in patients with systemic-onset juvenile rheumatoid arthritis and macrophage activation syndrome. J Pediatr. 2003;142:292–296
  39. Wulffraat NM, Rijkers GT, Elst E, Brooimans R, Kuis W. Reduced perforin expression in systemic juvenile idiopathic arthritis is restored by autologous stem-cell transplantation. Rheumatology (Oxford). 2003;42:375–379
  40. Takei M, Ishiwata T, Mitamura K, et al. Decreased expression of signaling lymphocytic-activation molecule-associated protein (SAP) transcripts in T cells from patients with rheumatoid arthritis. Int Immunol. 2001;13:559–565
  41. Henter JI, Horne A, Arico M, et al. HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. 2006;
  42. Hibi S, Ikushima S, Fujiwara F, et al. Serum and urine beta-2-microglobulin in hemophagocytic syndrome. Cancer. 1995;75:1700–1705
  43. Teruya-Feldstein J, Setsuda J, Yao X, et al. MIP-1alpha expression in tissues from patients with hemophagocytic syndrome. Lab Invest. 1999;79:1583–1590
  44. Feldmann J, Menasche G, Callebaut I, et al. Severe and progressive encephalitis as a presenting manifestation of a novel missense perforin mutation and impaired cytolytic activity. Blood. 2005;105:2658–2663
  45. Henter JI, Elinder G. Cerebromeningeal haemophagocytic lymphohistiocytosis. Lancet. 1992;339:104–107
  46. Parizhskaya M, Reyes J, Jaffe R. Hemophagocytic syndrome presenting as acute hepatic failure in two infants: clinical overlap with neonatal hemochromatosis. Pediatr Dev Pathol. 1999;2:360–366
  47. Loechelt BJ, Egeler M, Filipovich AH, Jyonouchi H, Shapiro RS. Immunosuppression: preliminary results of alternative maintenance therapy for familial hemophagocytic lymphohistocytosis (FHL). Med Pediatr Oncol. 1994;22:325–328
  48. Mouy R, Stephan JL, Pillet P, Haddad E, Hubert P, Prieur AM. Efficacy of cyclosporine A in the treatment of macrophage activation syndrome in juvenile arthritis: report of five cases. J Pediatr. 1996;129:750–754
  49. Imashuku S, Kuriyama K, Teramura T, et al. Requirement for etoposide in the treatment of Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis. J Clin Oncol. 2001;19:2665–2673
  50. Henter JI, Samuelsson-Horne A, Arico M, et al. Treatment of hemophagocytic lymphohistiocytosis with HLH-94 immunochemotherapy and bone marrow transplantation. Blood. 2002;100:2367–2373
  51. Horne A, Janka G, Maarten Egeler R, et al. Haematopoietic stem cell transplantation in haemophagocytic lymphohistiocytosis. Br J Haematol. 2005;129:622–630

PII: S0268-960X(07)00024-0

doi: 10.1016/j.blre.2007.05.001

Blood Reviews
Volume 21, Issue 5 , Pages 245-253 , September 2007

Article Tools

* Image Usage & Resolution