Macrophage activation syndrome

Textbook of Pediatric Rheumatology

Volumn , Issue , 2011, Pages 674-681

  Grom, Alexei A ^a,b  

^a UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

^b CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84882534599     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-1-4160-6581-4.10045-7     Document Type: Chapter

References (126)

1. Silverman E.D., Miller J.J., Bernstein B., et al. Consumption coagulopathy associated with systemic juvenile rheumatoid arthritis. J. Pediatr 1983, 103:872-876.
2. Hadchouel M., Prieur A.M., Griscelli C. Acute hemorrhagic, hepatic, and neurologic manifestations in juvenile rheumatoid arthritis: possible relationship to drugs or infection. J. Pediatr 1985, 106:561-566.
3. Stephan J.L., Zeller J., Hubert P., et al. Macrophage activation syndrome and rheumatic disease in childhood: a report of four new cases. Clin. Exp. Rheumatol 1993, 11:451-456.
4. Grom A.A. NK dysfunction: a common pathway in systemic onset juvenile rheumatoid arthritis, macrophage activation syndrome, and hemophagocytic lymphohistiocytosis. Arthritis Rheum 2004, 50:689-698.
5. Sawhney S., Woo P., Murray K.J. Macrophage activation syndrome: A potentially fatal complication of rheumatic disorders. Arch. Dis. Child 2001, 85:421-426.
6. Stephan J.L., Kone-Paut I., Galambrun C., et al. Reactive Haemophagocytic syndrome in children with inflammatory disorders. A retrospective study of 24 patients. Rheumatology (Oxford) 2001, 40:1285-1292.
7. Muise A., Tallett S.E., Silverman E.D. Are children with Kawasaki disease and prolonged fever at risk for macrophage activation syndrome?. Pediatrics 2003, 112:e495-e497.
8. Athreya B.H. Is macrophage activation syndrome a new entity?. Clin. Exper. Rheumatol 2002, 20:121-123.
9. Ramanan A.V., Baildam E.M. Macrophage activation syndrome is hemophagocytic lymphohistiocytosis-need for the right terminology. J. Rheumatol 2002, 29:1105.
10. Favara B.E., Feller A.C., Pauli M., et al. Contemporary classification of histiocytic disorders. The WHO Committee On Histiocytic/Reticulum Cell Proliferations. Reclassification Working Group of the Histiocyte Society. Med. Pediatr. Oncol 1997, 29:157-166.
11. Filipovich H.A. Hemophagocytic lymphohistiocytosis. Immunol. Allergy Clin. N. Am 2002, 22:281-300.
12. Avcin T., Tse S.M.L., Schneider R., et al. Macrophage activation syndrome as the presenting manifestation of rheumatic diseases in childhood. J. Pediatr 2006, 148:683-686.
13. Sullivan K.E., Delaat C.A., Douglas S.D., et al. Defective natural killer cell function in patients with hemophagocytic lymphohistiocytosis and first degree relatives. Pediatr. Res 1998, 44:465-468.
14. Stepp S.E., Dufourcq-Lagelouse R., Le Deist F., et al. Perforin gene defects in familial hemophagocytic lymphohistiocytosis. Science 1999, 286:1957-1959.
15. 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.
16. Menasche G., Pastural E., Feldman J., et al. Mutations in Rab27a cause Griscelli syndrome associated with haemophagocytic syndrome. Nat. Genet 2000, 25:173-176.
17. Barbosa M.D., Nguyen Q.A., Tchernev V.T., et al. Identification of the homologous beige and Chediak-Higashi syndrome genes (LYST). Nature 1996, 382:262-265.
18. Coffey A.J., Brooksbank R.A., 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.
19. Grom A.A., Villanueva J., Lee S., et al. Natural killer cell dysfunction in patients with systemic-onset juvenile rheumatoid arthritis and macrophage activation syndrome. J. Peds 2003, 142:292-296.
20. Villanueva J., Lee S., Giannini E.H., et al. Natural killer cell dysfunction is a distinguishing feature of systemic onset juvenile rheumatoid arthritis and macrophage activation syndrome. Arthritis Res. Ther 2005, 7:R30-R37.
21. Wulffraat N.M., Rijkers G.T., Elst E., et al. Reduced perforin expression in systemic onset juvenile idiopathic arthritis is restored by autologous stem cell transplantation. Rheumatology (Oxford) 2003, 42:375-379.
22. Hazen M.M., Woodward A.L., Hofman I., et al. Mutations of the hemophagocytosis-associated gene UNC13D in a patient with systemic juvenile idiopathic arthritis. Arthritis Rheum 2008, 58:567-570.
23. Zhang K., Biroscak J., Glass D.N., et al. Macrophage activation syndrome in systemic juvenile idiopathic arthritis is associated with MUNC13D gene polymorphisms. Arthritis Rheum 2008, 58:2892-2896.
24. Kagi D., Odermatt B., Mak T.W. Homeostatic regulation of CD8+ T cells by perforin. Eur. J. Immunol 1999, 29:3262-3272.
25. Verbsky J.W., Grossman W.J. Hemophagocytic lymphohistiocytosis: diagnosis, pathophysiology, treatment, and future perspectives. Ann. Med 2006, 38:20-31.
26. Menasche G., Feldmann J., Fischer A., et al. Primary hemophagocytic syndromes point to a direct link between lymphocyte cytotoxicity and homeostasis. Immunol. Rev 2005, 203:165-179.
27. Billiau A.D., Roskams T., Van Damme-Lombaerts T., et al. Macrophage activation syndrome: characteristic findings on liver biopsy illustrating the key role of activated, IFN&-gamma;-producing lymphocytes and IL-6 and TNF&-alpha;-producing macrophages. Blood 2005, 105:1648-1651.
28. Jordan M.B., 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.
29. Schaer D.J., Schleiffenbaum B., Kurrer M., et al. Soluble hemoglobin-haptoglobin scavenger receptor CD163 as a lineage-specific marker in the reactive hemophagocytic syndrome. Eur. J. Haemotol 2005, 74:6-10.
30. Kristiansen M., Graversen J.H., Jacobsen C., et al. Identification of the hemoglobin scavenger receptor. Nature 2001, 409:198-201.
31. Bleesing J., Prada A., Villanueva J., et al. The diagnostic significance of soluble CD163 and soluble IL2Rα chains in macrophage activation syndrome and untreated new onset systemic juvenile idiopathic arthritis. Arthritis Rheum 2007, 56:965-971.
32. Behrens E.M., Beukelman T., Paessler M., et al. Occult macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis. J. Rheumatol 2007, 34:1133-1138.
33. Fall N., Barnes M., Thornton S., et al. Gene expression profiling in peripheral blood in untreated new onset systemic juvenile idiopathic arthritis reveals molecular heterogeneity that may predict macrophage activation syndrome. Arthritis Rheum 2007, 56:3793-3804.
34. Komp D.M., Mcnamara J., Buckley P. Elevated soluble interleukin-2 receptor in childhood hemophagocytic histiocytic syndromes. Blood 1989, 73:2128-2132.
35. Moller H.J., Aerts H., Gronbaek H., et al. Soluble CD163: a marker molecule for monocyte/macrophage activity in disease. Scand. J. Clin. Lab. Invest 2002, 237:29-33.
36. Fardet L., Coppo P., Kettaneh A., et al. Low glycosylated ferritin, a good marker for the diagnosis of hemophagocytic syndrome. Arthritis Rheum 2008, 58:1521-1527.
37. Smith K.J., Skeltom H.G., Yeager J., et al. Cutaneous, histopathologic, immunohistochemical, and clinical manifestations in patients with hemophagocytic syndrome. Arch. Dermatol. 128 1992, 193-200.
38. Reiner A.P., Spivak J.L. Hematophagic Histiocytosis. A report of 23 new patients and a review of the literature. Medicine 1998, 67:369-388.
39. Coca A., Bundy K.W., Marston B., et al. Macrophage activation syndrome: serological markers and treatment with anti-thymocyte globulin. Clin. Immunol 2009, 132:10-18.
40. Henter J.I., Horne A., Arico M., et al. HLH-2004:Diagnostic and therapeutic guidelines for hemopagocytic lymphohistiocytosis. Pediatr. Blood Cancer 2007, 48:124-131.
41. Parodi A., Davì S., Pringe A.B., et al. Macrophage Activation Syndrome in Juvenile Systemic Lupus Erythematosus. Multinational multicenter study of 38 patients. Arthritis Rheum 2009, 60:3388-3399.
42. Mouy R., Stephan J.L., Pillet P., et al. Efficacy of cyclosporine A in the treatment of macrophage activation syndrome in juvenile arthritis: report of five cases. J. Pediatr 1996, 129:750-754.
43. Ravelli A., De Benedetti F., Viola S., et al. Macrophage activation syndrome in systemic juvenile rheumatoid arthritis successfully treated with cyclosporine. J. Pediatr 1996, 128:275-278.
44. Fishman D., Rooney M., Woo P. Successful management of reactive haemophagocytic syndrome in systemic-onset juvenile chronic arthritis. Br. J. Rheumatol 1995, 34:888.
45. Larroche C., Bruneel F., Andre M.H., et al. Intravenously administered gamma-globulins in reactive hemophagocytic syndrome. Ann. Med. Interne. (Paris) 2000, 151:533-539.
46. Balamuth N.J., Nichols K.E., Paessler M., et al. Use of Rituximab in cinjunction with immunosuppressive chemotherapy for EBV-associated hemophagocytic lymphohistiocytosis. J. Pediatr. Hematol/Oncol 2007, 29:569-573.
47. Prahalad S., Bove K., Dickens D., et al. Etanercept in the treatment of macrophage activation syndrome. J. Rheumatol 2001, 28:2120-2124.
48. Silverman E.D., Miller J.J., Bernstein B., et al. Consumption coagulopathy associated with systemic juvenile rheumatoid arthritis. J. Pediatr 1983, 103:872-876.
49. Hadchouel M., Prieur A.M., Griscelli C. Acute hemorrhagic, hepatic, and neurologic manifestations in juvenile rheumatoid arthritis: possible relationship to drugs or infection. J. Pediatr 1985, 106:561-566.
50. Stephan J.L., Zeller J., Hubert P., et al. Macrophage activation syndrome and rheumatic disease in childhood: a report of four new cases. Clin. Exp. Rheumatol 1993, 11:451-456.
51. Grom A.A. NK dysfunction: a common pathway in systemic onset juvenile rheumatoid arthritis, macrophage activation syndrome, and hemophagocytic lymphohistiocytosis. Arthritis Rheum 2004, 50:689-698.
52. Sawhney S., Woo P., Murray K.J. Macrophage activation syndrome: a potentially fatal complication of rheumatic disorders. Arch. Dis. Child 2001, 85:421-426.
53. Stephan J.L., Kone-Paut I., Galambrun C., et al. Reactive haemophagocytic syndrome in children with inflammatory disorders: a retrospective study of 24 patients. Rheumatology (Oxford) 2001, 40:1285-1292.
54. Muise A., Tallett S.E., Silverman E.D. Are children with Kawasaki disease and prolonged fever at risk for macrophage activation syndrome?. Pediatrics 2003, 112:e495-e497.
55. Athreya B.H. Is macrophage activation syndrome a new entity?. Clin. Exp. Rheumatol 2002, 20:121-123.
56. Ramanan A.V., Baildam E.M. Macrophage activation syndrome is hemophagocytic lymphohistiocytosis: need for the right terminology. J. Rheumatol 2002, 29:1105.
57. Favara B.E., Feller A.C., Pauli M., et al. Contemporary classification of histiocytic disorders. The WHO Committee On Histiocytic/Reticulum Cell Proliferations. Reclassification Working Group of the Histiocyte Society. Med. Pediatr. Oncol 1997, 29:157-166.
58. Filipovich H.A. Hemophagocytic lymphohistiocytosis. Immunol. Allergy Clin. N. Am 2002, 22:281-300.
59. Clementi R., Emi L., Maccario R., et al. Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations. Blood 2002, 100:2266-2267.
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70. Stepp S.E., Dufourcq-Lagelouse R., Le Deist F., et al. Perforin gene defects in familial hemophagocytic lymphohistiocytosis. Science 1999, 286:1957-1959.
71. 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.
72. Menasche G., Pastural E., Feldman J., et al. Mutations in Rab27a cause Griscelli syndrome associated with haemophagocytic syndrome. Nat. Genet 2000, 25:173-176.
73. Barbosa M.D., Nguyen Q.A., Tchernev V.T., et al. Identification of the homologous beige and Chediak-Higashi syndrome genes (LYST). Nature 1996, 382:262-265.
74. Coffey A.J., Brooksbank R.A., 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.
75. Grom A.A., Villanueva J., Lee S., et al. Natural killer cell dysfunction in patients with systemic-onset juvenile rheumatoid arthritis and macrophage activation syndrome. J. Peds 2003, 142:292-296.
76. Villanueva J., Lee S., Giannini E.H., et al. Natural killer cell dysfunction is a distinguishing feature of systemic onset juvenile rheumatoid arthritis and macrophage activation syndrome. Arthritis Res. Ther 2005, 7:R30-R37.
77. Wulffraat N.M., Rijkers G.T., Elst E., et al. Reduced perforin expression in systemic onset juvenile idiopathic arthritis is restored by autologous stem cell transplantation. Rheumatology (Oxford) 2003, 42:375-379.
78. Hazen M.M., Woodward A.L., Hofman I., et al. Mutations of the hemophagocytosis-associated gene UNC13D in a patient with systemic juvenile idiopathic arthritis. Arthritis Rheum 2008, 58:567-570.
79. Zhang K., Biroscak J., Glass D.N., et al. Macrophage activation syndrome in systemic juvenile idiopathic arthritis is associated with MUNC13D gene polymorphisms. Arthritis Rheum 2008, 58:2892-2896.
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91. Jordan M.B., 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.
92. Schaer D.J., Schleiffenbaum B., Kurrer M., et al. Soluble hemoglobin-haptoglobin scavenger receptor CD163 as a lineage-specific marker in the reactive hemophagocytic syndrome. Eur. J. Haemotol 2005, 74:6-10.
93. Kristiansen M., Graversen J.H., Jacobsen C., et al. Identification of the hemoglobin scavenger receptor. Nature 2001, 409:198-201.
94. Bleesing J., Prada A., Villanueva J., et al. The diagnostic significance of soluble CD163 and soluble IL2Rα chains in macrophage activation syndrome and untreated new onset systemic juvenile idiopathic arthritis. Arthritis Rheum 2007, 56:965-971.
95. Behrens E.M., Beukelman T., Paessler M., et al. Occult macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis. J. Rheumatol 2007, 34:1133-1138.
96. Fall N., Barnes M., Thornton S., et al. Gene expression profiling in peripheral blood in untreated new onset systemic juvenile idiopathic arthritis reveals molecular heterogeneity that may predict macrophage activation syndrome. Arthritis Rheum 2007, 56:3793-3804.
97. Komp D.M., Mcnamara J., Buckley P. Elevated soluble interleukin-2 receptor in childhood hemophagocytic histiocytic syndromes. Blood 1989, 73:2128-2132.
98. Moller H.J., Aerts H., Gronbaek H., et al. Soluble CD163: a marker molecule for monocyte/macrophage activity in disease. Scand. J. Clin. Lab. Invest 2002, 237:29-33.
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101. Smith K.J., Skeltom H.G., Yeager J., et al. Cutaneous, histopathologic, immunohistochemical, and clinical manifestations in patients with hemophagocytic syndrome. Arch. Dermatol 1992, 128:193-200.
102. Reiner A.P., Spivak J.L. Hematophagic histiocytosis: a report of 23 new patients and a review of the literature. Medicine 1998, 67:369-388.
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107. Henter J.I., Horne A., Arico M., et al. HLH-2004: Diagnostic and therapeutic guidelines for hemopagocytic lymphohistiocytosis. Pediatr. Blood Cancer 2007, 48:124-131.
108. Parodi A., Davì S., Pringe A.B., et al. Macrophage activation syndrome in juvenile systemic lupus erythematosus: multinational multicenter study of 38 patients. Arthritis Rheum 2009, 60:3388-3399.
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124. Larroche C., Bruneel F., Andre M.H., et al. Intravenously administered gamma-globulins in reactive hemophagocytic syndrome. Ann. Med. Interne. (Paris) 2000, 151:533-539.
125. Balamuth N.J., Nichols K.E., Paessler M., et al. Use of rituximab in cinjunction with immunosuppressive chemotherapy for EBV-associated hemophagocytic lymphohistiocytosis. J. Pediatr. Hematol./Oncol 2007, 29:569-573.
126. Prahalad S., Bove K., Dickens D., et al. Etanercept in the treatment of macrophage activation syndrome. J. Rheumatol 2001, 28:2120-2124.