Hemophagocytic Syndrome in Children and Adults

Archivum Immunologiae et Therapiae Experimentalis

Volumn 62, Issue 5, 2014, Pages 385-394

  Malinowska, Iwona ^a   Machaczka, Maciej ^b,c   Popko, Katarzyna ^a   Siwicka, Alicja ^a   Salamonowicz, Małgorzata ^a   Nasiłowska Adamska, Barbara ^d  

^a MEDICAL UNIVERSITY OF WARSAW   (Poland)

^b KAROLINSKA INSTITUTE   (Sweden)

^c UNIVERSITY OF RZESZÓW   (Poland)

^d INSTITUTE OF HEMATOLOGY AND TRANSFUSION MEDICINE   (Poland)

Author keywords

Adults; Children; Hemophagocytic lymphohistiocytosis; Hemophagocytic syndrome

Indexed keywords

INTERLEUKIN 2; IL2RA PROTEIN, HUMAN; INTERLEUKIN 2 RECEPTOR ALPHA; LYST PROTEIN, HUMAN; PERFORIN; PRF1 PROTEIN, HUMAN; TRIACYLGLYCEROL; VESICULAR TRANSPORT PROTEIN;

ALLOGENEIC STEM CELL TRANSPLANTATION; BLOOD CLOTTING DISORDER; BLOOD LEVEL; CYTOPENIA; FEVER; HEMOPHAGOCYTIC SYNDROME; HUMAN; HYPERFERRITINEMIA; HYPERTRANSAMINASEMIA; HYPERTRIGLYCERIDEMIA; HYPOFIBRINOGENEMIA; HYPONATREMIA; HYPOPROTEINEMIA; LABORATORY TEST; PHENOTYPE; REVIEW; SPLENOMEGALY; ADULT; ANIMAL; AUTOIMMUNE DISEASES; BLOOD; CHILD; COMPLICATION; CYTOTOXICITY; GENETICS; HEMATOPOIETIC STEM CELL TRANSPLANTATION; IMMUNOLOGY; INFECTION; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; LYMPHOMA; METABOLISM; SECRETORY VESICLE;

ADULT; ANIMALS; AUTOIMMUNE DISEASES; CHILD; CYTOTOXICITY, IMMUNOLOGIC; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMANS; INFECTION; INTERLEUKIN-2 RECEPTOR ALPHA SUBUNIT; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; LYMPHOMA; PERFORIN; SECRETORY VESICLES; TRIGLYCERIDES; VESICULAR TRANSPORT PROTEINS;

EID: 84919860793     PISSN: 0004069X     EISSN: 16614917     Source Type: Journal    
DOI: 10.1007/s00005-014-0274-1     Document Type: Review

References (79)

1. Abdelkefi A, Jamil WB, Torjman L et al (2009) Hemophagocytic syndrome after hematopoietic stem cell transplantation: a prospective observational study. Int J Hematol 89:368–373
2. Arico M, Janka G, Fisher A et al (1996) Hemophagocytic lymphohistiocytosis. Report of 122 children from the International Registry. FHL study Group of the Histiocyte Society. Leukemia 10:197–203
3. Arico M, Bettinelli A, Maccario R et al (1999) Hemophagocytic lymphohistiocytosis in a patient with deletion of 22q11.2. Am J Med Genet 87:329–330
4. Arneson LN, Brickshawana A, Segovis CM et al (2007) Cutting edge: syntaxin 11 regulates lymphocyte-mediated secretion and cytotoxicity. J Immunol 179:3397–3401
5. Baker KS, DeLaat CA, Steinbuch M (1997) Successful correction of hemophagocytic lymphohistiocytosis with related or unrelated bone marrow transplantation. Blood 89:3857–3863
6. Balwierz W, Czogała M, Pawińska-Wasikowska K et al (2010) Hemophagocytic lymphohistiocytosis: diagnostic problems in pediatrics (in Polish). Przegl Lek 67:417–424
7. Bryceson YT, Rudd E, Zheng C et al (2007) Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients. Blood 110:1906–1915
8. Bryceson YT, Fauriat C, Nunes JM et al (2010) Functional analysis of human NK cells by flow cytometry. Methods Mol Biol 612:335–352
9. Bryceson YT, Pende D, Maul-Pavicic A et al (2012) A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes. Blood 119:2754–2763
10. Canna SW, Behrens EM (2012) Not all hemophagocytes are created equally: appreciating the heterogeneity of the hemophagocytic syndromes. Curr Opin Rheumatol 24:113–118
11. Cesaro S, Locatelli F, Lanino E et al (2008) Hematopoietic stem cell transplantation for hemophagocytic lymphohistiocytosis: a retrospective analysis of data from the Italian Association of Pediatric Hematology Oncology (AIEOP). Haematologica 93:1694–1701
12. Chang YH, Lu PJ, Lu MY et al (2009) Sequential transplants for respective relapse of Hodgkin disease and hemophagocytic lymphohistiocytosis: a treatment dilemma. J Pediatr Hematol Oncol 31:778–781
13. Chiang SC, Theorell J, Entesarian M et al (2013) Comparison of primary human cytotoxic T-cell and natural killer cell responses reveal similar molecular requirements for lytic granule exocytosis but differences in cytokine production. Blood 121:1345–1356
14. Clementi R, Emmi L, Maccario R et al (2002) Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations. Blood 100:2266–2267
15. Cooper N, Rao K, Gilmour K et al (2006) Stem cell transplantation with reduced-intensity conditioning for hemophagocytic lymphohistiocytosis. Blood 107:1233–1236
16. Durken M, Horstmann M, Bieling P et al (1999) Improved outcome in haemophagocytic lymphohistiocytosis after bone marrow transplantation from related and unrelated donors: a single-centre experience of 12 patients. Br J Haematol 106:1052–1058
17. Farquhar JW, Claireaux AE (1952) Familial haemophagocytic reticulosis. Arch Dis Child 27:519–525
18. Feldmann J, Callebaut I, Raposo G et al (2003) Munc 13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). Cell 115:461–473
19. Filipovich A, McClain K, Grom A (2010) Histiocytic disorders: recent insights into pathophysiology and practical guidelines. Biol Blood Marrow Transplant 16(1 Suppl):S82–S89
20. Fischer A, Cerf-Bensusssan N, Blanche S et al (1986) Allogeneic bone marrow transplantation for erythrophagocytic lymphohistiocytosis. J Pediatr 108:267–270
21. Goi K, Sugita K, Nakamura M et al (1999) Development of acute lymphoblastic leukemia with translocation (4;11) in a young girl with familial pericentric inversion 12. Cancer Genet Cytogenet 110:124–127
22. Gupta S, Weitzman S (2010) Primary and secondary hemophagocytic lymphohistiocytosis: clinical features, pathogenesis and therapy. Expert Rev Clin Immunol 6:137–154
23. Hasselblom S, Linde A, Ridell B (2004) Hodgkin’s lymphoma, Epstein-Barr virus reactivation and fatal haemophagocytic syndrome. J Intern Med 255:289–295
24. Henter JI, Arico M, Elinder G et al (1998) Familial hemophagocytic lymphohistiocytosis. Primary hemophagocytic lymphohistiocytosis. Hematol Oncol Clin North Am 12:417–433
25. Henter JI, Samuelsson-Horne A, Arico M et al (2002) Treatment of hemophagocytic lymphohistiocytosis with HLH-94 immunochemotherapy and bone marrow transplantation. Blood 100:2367–2373
26. Henter JI, Horne A, Arico M et al (2007) HLH-2004: diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer 48:124–131
27. Horne A, Janka G, Maarten Egeler R et al (2005) Haematopoietic stem cell transplantation in haemophagocytic lymphohistiocytosis. Br J Haematol 129:622–630
28. Horne A, Ramme KG, Rudd E et al (2008) Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis. Br J Haematol 143:75–83
29. Huck K, Feyen O, Niehues T et al (2009) Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation. J Clin Invest 119:1350–1358
30. Imashuku S, Hibi S, Ohara T et al (1999a) Effective control of Epstein-Barr virus-related hemophagocytic lymphohistiocytosis with immunochemotherapy. Histiocyte Society. Blood 93:1869–1874
31. Imashuku S, Hibi S, Todo S et al (1999b) Allogenic hematopoietic stem cell transplantation for patients with hemophagocytic syndrome (HPS) in Japan. Bone Marrow Transplant 23:569–572
32. Ishii E, Ueda I, Shirakawa R et al (2005) Genetic subtypes of familial hemophagocytic lymphohistiocytosis: correlations with clinical features and cytotoxic T lymphocyte/natural killer cell function. Blood 105:3442–3448
33. Ishii E, Ohga S, Imashuku S et al (2007) Nationwide survey of hemophagocytic lymphohistiocytosis in Japan. Int J Hematol 86:58–65
34. Janka GE (2007) Hemophagocytic syndromes. Blood Rev 21:245–253
35. Janka G (2009) Hemophagocytic lymphohistiocytosis: when the immune system runs amok. Klin Padiatr 221:278–285
36. Jędrzejczak WW (2008) Limfohistiocytoza hemofagocytarna—rzadko rozpoznawany uleczalny stan bezpośredniego zagrożenia życia występujący również u dorosłych. Acta Haematol Pol 39:515–526
37. Jordan MB, Filipovich AH (2008) Hematopoietic cell transplantation for hemophagocytic lymphohistiocytosis: a journey of a thousand miles begins with a single (big) step. Bone Marrow Transplant 42:433–437
38. Jordan MB, Hildeman D, Kappler J et al (2004) An animal model of hemophagocytic lymphohistiocytosis (HLH): CD8+T cells and interferon gamma are essential for the disorder. Blood 104:735–743
39. Kelly C, Salvi S, McClain K et al (2011) Hemophagocytic lymphohistiocytosis associated with precursor B acute lymphoblastic leukemia. Pediatr Blood Cancer 56:658–660
40. Komp DM, McNamara J, Buckley P (1989) Elevated soluble interleukin-2 receptor in childhood hemophagocytic histiocytic syndromes. Blood 73:2128–2132
41. Krzewski K, Gil-Krzewska A, Nguyen V et al (2013) LAMP1/CD107a is required for efficient perforin delivery to lytic granules and NK-cell cytotoxicity. Blood 121:4672–4683
42. Kumakura S (2005) Hemophagocytic syndrome. Intern Med 44:278–280
43. 2+ revealed by human T-cell immunodeficiency. Nature 475:471–476
44. Löfstedt A, Eriksson C, Klimkowska M et al (2013) Treatment and outcome in malignancy-associated hemophagocytic lymphohistiocytosis: a single center retrospective study. The Histiocyte Society, 29th Annual Meeting, Washington, DC, 21–23 Oct 2013. Abstract book 27–28 (oral presentation)
45. Machaczka M, Vaktnäs J (2007) Haemophagocytic syndrome associated with Hodgkin lymphoma and Pneumocystis jiroveci pneumonitis. Br J Haematol 138:672
46. Machaczka M, Vaktnäs J, Chiang SC, Bryceson YT (2010) Alemtuzumab treatment for hemophagocytic lymphohistiocytosis. Nat Rev Clin Oncol 7. doi:10.1038/nrclinonc.2010.40-c1
47. Machaczka M, Klimkowska M, Regenthal S, Hägglund H (2011a) Gaucher disease with foamy transformed macrophages and erythrophagocytic activity. J Inherit Metab Dis 34:233–235
48. Machaczka M, Vaktnäs J, Klimkowska M et al (2011b) Malignancy-associated hemophagocytic lymphohistiocytosis in adults: a retrospective population-based analysis from a single center. Leuk Lymphoma 52:613–619
49. Machaczka M, Vaktnäs J, Klimkowska M et al (2011c) Acquired hemophagocytic lymphohistiocytosis associated with multiple myeloma. Med Oncol 28:539–543
50. Machaczka M, Sydor W, Rucińska M et al (2011d) Autoimmune-associated hemophagocytic syndrome/macrophage activation syndrome (chapter 5). In: Huang F-P (ed) Autoimmune disorders—current concepts and advances from bedside to mechanistic insights. InTech-Open Access Publisher, Rijeka (Croatia), pp 79–104
51. Machaczka M, Nahi H, Karbach H et al (2012) Successful treatment of recurrent malignancy-associated hemophagocytic lymphohistiocytosis with a modified HLH-94 immunochemotherapy and allogeneic stem cell transplantation. Med Oncol 29:1231–1236
52. Malloy CA, Polinski C, Alkan S et al (2004) Hemophagocytic lymphohistiocytosis presenting with nonimmune hydrops fetalis. J Perinatol 24:458–460
53. Marsh RA, Satake N, Biroschak J et al (2010a) STX11 mutations and clinical phenotypes of familial hemophagocytic lymphohistiocytosis in North America. Pediatr Blood Cancer 55:134–140
54. Marsh RA, Vaughn G, Kim MO et al (2010b) Reduced-intensity conditioning significantly improves survival of patients with hemophagocytic lymphohistiocytosis undergoing allogeneic hematopoietic cell transplantation. Blood 116:5824–5831
55. Meeths M, Chiang SC, Wood SM et al (2011) Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D. Blood 118:5783–5793
56. Minegishi M, Ohashi Y, Kumaki S et al (2001) Successful umbilical cord blood transplantation from an unrelated donor for a patient with Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis. Bone Marrow Transplant 27:883–886
57. Molleran Lee S, Villanueva J, Sumegi J et al (2004) Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis. J Med Genet 41:137–144
58. Mougiakakos D, Machaczka M, Jitschin R et al (2012) Treatment of familial haemophagocytic lymphohistiocytosis with third-party mesenchymal stromal cells. Stem Cells Dev 21:3147–3151
59. Ohga S, Kudo K, Ishii E et al (2010) Hematopoietic stem cell transplantation for familial hemophagocytic lymphohistiocytosis and Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis in Japan. Pediatr Blood Cancer 54:299–306
60. Ouachèe-Chardin M, Elie C, de Saint Basile G et al (2006) Hematopoietic stem cell transplantation in hemophagocytic lymphohistiocytosis: a single-center report of 48 patients. Pediatrics 117:e743–e750
61. Pasic S, Micic D, Kuzmanovic M (2003) Epstein-Barr virus-associated haemophagocytic lymphohistiocytosis in Wiskott–Aldrich syndrome. Acta Paediatr 92:859–861
62. Przybylski M, Dzieciątkowski T, Zduńczyk D et al (2010) Microbiological findings and treatment of EBV-associated hemophagocytic lymphohistiocytosis: a case report. Arch Immunol Ther Exp 58:247–252
63. Ramanan AV, Baildam EM (2002) Macrophage activation syndrome is hemophagocytic lymphohistiocytosis—need for the right terminology. J Rheumatol 29:1105
64. Reiner AP, Spivak JL (1988) Hematophagic histiocytosis. A report of 23 new patients and a review of the literature. Medicine 67:369–388
65. Rouphael NG, Talati NJ, Vaughan C et al (2007) Infections associated with haemophagocytic syndrome. Lancet Infect Dis 7:814–822
66. Shabbir M, Lucas J, Lazarchick J et al (2011) Secondary hemophagocytic syndrome in adults: a case series of 18 patients in a single institution and a review of literature. Hematol Oncol 29:100–106
67. Sovinz P, Schwinger W, Lackner H et al (2010) Severe Epstein-Barr virus encephalitis with hemophagocytic syndrome. Rapid clearance of virus following allogeneic hematopoietic stem cell transplantation from a seropositive donor. Pediatr Infect Dis J 29:553–556
68. Speckmann C, Lehmberg K, Albert MH et al (2013) X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis. Clin Immunol 149:133–141
69. Stepensky P, Weintraub M, Yanir A et al (2011) IL-2-inducible T-cell kinase deficiency: clinical presentation and therapeutic approach. Haematologica 96:472–476
70. Stepp SE, Dufourcq-Lagelouse R, Le Deist F et al (1999) Perforin gene defects in familial hemophagocytic lymphohistiocytosis. Science 286:1957–1959
71. Takagi S, Masuoka K, Uchida N et al (2009) High incidence of haemophagocytic syndrome following umbilical cord blood transplantation for adults. Br J Haematol 147:543–553
72. Tong H, Ren Y, Liu H et al (2008) Clinical characteristics of T-cell lymphoma associated with hemophagocytic syndrome: comparison of T-cell lymphoma with and without hemophagocytic syndrome. Leuk Lymphoma 49:81–87
73. Toubo T, Suga N, Ohga S et al (2004) Successful unrelated cord blood transplantation for Epstein-Barr virus-associated lymphoproliferative disease with hemophagocytic syndrome. Int J Hematol 80:458–462
74. van Montfrans JM, Hoepelman AI, Otto S et al (2012) CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia. J Allergy Clin Immunol 129(787–793):e6
75. Weitzman S (2011) Approach to hemophagocytic syndromes. Hematology 2011, American Society of Hematology Education Program Book, pp 178–183
76. Yang X, Kanegane H, Nishida N et al (2012) Clinical and genetic characteristics of XIAP deficiency in Japan. J Clin Immunol 32:411–420
77. Yoon HS, Im HJ, Moon HN et al (2010) The outcome of hematopoietic stem cell transplantation in Korean children with hemophagocytic lymphohistiocytosis. Pediatr Transplantat 14:735–740
78. zur Stadt U, Schmidt S, Kasper B et al (2005) Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11. Hum Mol Genet 14:827–834
79. zur Stadt U, Rohr J, Seifert W et al (2009) Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin11. Am J Hum Genet 85:482–492