An overview of hemophagocytic lymphohistiocytosis

Pediatric Annals

Volumn 46, Issue 8, 2017, Pages e309-e313

  Esteban, Ysabella M ^a   de Jong, Jill L O ^a   Tesher, Melissa S ^a  

^a UNIVERSITY OF CHICAGO MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALEMTUZUMAB; ANAKINRA; CORTICOSTEROID; CYCLOSPORIN A; ETOPOSIDE; METHOTREXATE; PERFORIN; RITUXIMAB; SYNTAXIN; TOCILIZUMAB;

ARTICLE; AUTOIMMUNE DISEASE; AUTOINFLAMMATORY DISEASE; CLINICAL FEATURE; EPIDEMIOLOGICAL MONITORING; EPSTEIN BARR VIRUS INFECTION; GENE MUTATION; GENETIC SCREENING; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HEMOPHAGOCYTIC SYNDROME; HUMAN; HUMAN IMMUNODEFICIENCY VIRUS INFECTION; IMMUNE DEFICIENCY; MACROPHAGE ACTIVATION SYNDROME; MALIGNANT NEOPLASM; METABOLIC DISORDER; NONHUMAN; ORGAN TRANSPLANTATION; PATHOGENESIS; PATHOPHYSIOLOGY; SEPSIS; SYSTEMIC JUVENILE IDIOPATHIC ARTHRITIS; RISK FACTOR; UNITED STATES;

HUMANS; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; RISK FACTORS; UNITED STATES;

EID: 85027496083     PISSN: 00904481     EISSN: 19382359     Source Type: Journal    
DOI: 10.3928/19382359-20170717-01     Document Type: Article

References (30)

1. Scott RB, Robb-Smith AHT. Histiocytic medullary reticulosis. Lancet. 1939;2:194-198.
2. Farquhar JW, Claireaux AE. Familial hae-mophagocytic reticulosis. Arch Dis Child. 1952;27(136):519-525.
3. Mehta RS, Smith RE. Hemophagocytic lymphohistiocytosis: a review of literature. Med Oncol. 2013;30(4):740. doi: 10.1007/s12032-013-0740-3.
4. Verbsky JW, Grossman WJ. Hemophagocytic lymphohistiocytosis: diagnosis, pathophysiology, treatment, and future perspectives. Ann Med. 2006;38(1):20-31. doi: 10.1080/07853890500465189.
5. Erker C, Parker-Murray P, Talano JA. Usual and unusual manifestations of familial hemophagocytic lymphohistiocytosis and Langerhans cell histiocytosis. Pediatr Clin North Am. 2017;64(1):91-109. doi: 10.1016/j. pcl.2016.08.006.
6. Züre K, Bay A, Albayrak M, Koak U, Ye-nicesu I, Gursel T. Prognostic factors and long-term outcome in 52 Turkish children with hemophagocytic lymphohistiocytosis. Pediatr Crit Care Med. 2015;e165-e173. doi: 10.1097/PCC.0000000000000449.
7. 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. doi: 10.1002/humu.20274.
8. Jordan MB, Allen CE, Weitzman S, Fili-povich AH, McClain KL. How I treat lym-phophagocytic lymphohistiocytosis. Blood. 2011;118(15):4041-4052. doi: 10.1182/blood-2011-03-278127.
9. Ishii E. Hemophagocytic lymphohistiocytosis in children: pathogenesis and treatment. Front Pediatr. 2016;4:47. doi: 10.3389/fped.2016.00047.
10. Janka GE, Lehmberg K. Hemophagocytic lymphohistiocytosis: pathogenesis and treatment. Hematology Am Soc Hematol Educ Program. 2013;2013:605-611. doi: 10.1182/asheducation-2013.1.605.
11. Boom V, Anton J, Lahdenne P, et al. Evi-denced-based diagnosis and treatment of macrophage activation syndrome in systemic juvenile idiopathic arthritis. Pediatr Rheumatol Online. 2015;13:55. doi: 10.1186/s12969-015-0055-3.
12. Fuwa K, Kubota M, Kanno M, et al. Mito-chondrial disease as a cause of neonatal hemophagocytic lymphohistiocytosis. Case Rep Pediatr. 2016. doi: 10.1155/2016/3932646.
13. Jenkins MR, Rudd-Schmidt JA, Lopez JA, et al. Failed CTL/NK cell killing and cy-tokine hypersecretion are directly linked through prolonged synapse time. J Exp Med. 2015;212(3):307-317. doi: 10.1084/jem.20140964.
14. Stepp SE, Dufourcq-Lagelouse R, Le Deist F, et al. Perforin gene defects in familial hemophagocytic lymphohistiocytosis. Science. 1999;286:1957-1959.
15. Bracaglia C, Prencipe G, De Benedetti F. Macrophage activation syndrome: different mechanisms leading to a one clinical syndrome. Pediatr Rheumatol Online. 2017;15(5). doi: 10.1186/s12969-016-0130-4.
16. Kaufman M, Linghu B, Szustakowski JD, et al. Whole-exome sequencing reveals overlap between macrophage activation syndrome in systemic juvenile idiopathic arthritis and familial hemophagocytic lymphohistiocytosis. Arthritis Rheumatol. 2014;66(12):3486-3495. doi: 10.1002/art.38793.
17. Beutel K, Gross-Wieltsch U, Wiesel T, et al. Infection of T lymphocytes in Epstein-Barr virus associated hemophagocytic lymphohistiocytosis in children of non-Asian origin. Pediatr Blood Cancer. 2009;53:184-190. doi: 10.1002/pbc.22037.
18. Lay JD, Tsao CJ, Chen JY, Kadin ME, Su IJ. Upregulation of tumor necrosis factor-alpha gene by Epstein-Barr virus and activation of macrophages in Epstein-Barr virus-infected T cells in the pathogenesis of hemophagocytic syndrome. J Clin Invest. 1997;100(8):1969-1979. doi: 10.1172/JCI119728.
19. Sifers TM, Raje N, Dinakar C. Hemophagocytic lymphohistiocytosis: a concise review for the practicing physician. Allergy Asthma Proc. 2016;37(3):256-258.
20. Janka GE. Familial and acquired hemophagocytic lymphohistiocytosis. Annu Rev Med. 2012;63:233-246. doi: 10.1146/annurev-med-041610-134208.
21. Allen CE, Yu X, Kozinetz CA, McClain KL. Highly elevated ferritin levels and the diagnosis of hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. 2008;50(6):1227-1235. doi: 10.1002/pbc.21423.
22. Henter JI, Horne AC, Arico M, et al. HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. 2007;48:124-131. doi: 10.1002/pbc.21039.
23. Gupta A, Weitzman S, Abdelhaleem M. The role of hemophagocytosis in bone marrow aspirates in the diagnosis of hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. 2008;50(2):192-194. doi: 10.1002/pbc.21441.
24. Trottestam H, Horne AC, Aricò M, et al. Chemoimmunotherapy for hemophagocytic lymphohistiocytosis: long-term results of the HLH-94 treatment protocol. Blood. 2011;118(17):4577-4584. doi: 10.1182/blood-2011-06-356261.
25. Henter JI, Samuelsson-Home A, Arico M, et al. Treatment of hemophagocytic lympho- histiocytosis with HLH-94 immunochemo-therapy and bone marrow transplantation. Blood. 2002;100(7):2367-2373. doi: 10.1182/blood-2002-01-0172.
26. Matsuda S, Koyasu S. Mechansims of action of cyclosporine. Immunopharmacology. 2000;47(2-3):119-125.
27. Rajasekaran S, Kruse K, Kovey K, et al. Therapeutic role of anakinra, an interleu-kin-1 receptor antagonist, in the management of secondary hemophagocytic lym-phohistiocytosis/sepsis/multiple organ dysfunction/macrophage activating syndrome in critically ill children. Pediatr Crit Care Med. 2014;15:401-408. doi: 10.1097/PCC.0000000000000078.
28. Marsh RA, Allen CE, McClain KL, et al. Salvage therapy of refractory hemophagocytic lymphohistiocytosis with alemtuzumab. Pediatr Blood Cancer. 2013;60(1):101-109. doi: 10.1002/pbc.24188.
29. Usmani GN, Woda BA, Newburger PE. Advances in understanding the pathogenesis of HLH. Br J Haematol. 2013;161:609-622. doi: 10.1111/bjh.12293.
30. Pagel J, Beutel K, Lehmberg K, et al. Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5). Blood. 2012;119(25):6016-6024. doi:10.1182/blood-2011-12-398958.