Annals of Laboratory Medicine

Korean Society for Laboratory Medicine (대한진단검사의학회)
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First Report on Familial Hemophagocytic Lymphohistiocytosis with an Abnormal Immunophenotype and T Cell Monoclonality in Korea

  • Shin, Sang-Yong (Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Lee, Kyunghoon (Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Jang, Mi-Ae (Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Lee, Seung-Tae (Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Yoo, Keon Hee (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Koo, Hong Hoe (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Kim, Dae Shick (Department of Pathology, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Kim, Hee-Jin (Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Kim, Sun-Hee (Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
  • Received : 2014.05.19
  • Accepted : 2014.10.29
  • Published : 2015.01.02
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Abstract

Keywords

References

  1. McCall CM, Mudali S, Arceci RJ, Small D, Fuller S, Gocke CD, et al. Flow cytometric findings in hemophagocytic lymphohistiocytosis. Am J Clin Pathol 2012;137:786-94. https://doi.org/10.1309/AJCPP40MEXWYRLPN
  2. Ahn JS, Rew SY, Shin MG, Kim HR, Yang DH, Cho D, et al. Clinical significance of clonality and Epstein-Barr virus infection in adult patients with hemophagocytic lymphohistiocytosis. Am J Hematol 2010;85:719-22. https://doi.org/10.1002/ajh.21795
  3. Karandikar NJ, Kroft SH, Yegappan S, Rogers BB, Aquino VM, Lee KM, et al. Unusual immunophenotype of CD8+ T cells in familial hemophagocytic lymphohistiocytosis. Blood 2004;104:2007-9. https://doi.org/10.1182/blood-2004-04-1431
  4. Seo JY, Song JS, Lee KO, Won HH, Kim JW, Kim SH, et al. Founder effects in two predominant intronic mutations of UNC13D, c.118-308C>T and c.754-1G>C underlie the unusual predominance of type 3 familial hemophagocytic lymphohistiocytosis (FHL3) in Korea. Ann Hematol 2013;92:357-64. https://doi.org/10.1007/s00277-012-1628-6
  5. Signoretti S, Murphy M, Cangi MG, Puddu P, Kadin ME, Loda M. Detection of clonal T-cell receptor gamma gene rearrangements in paraffin-embedded tissue by polymerase chain reaction and nonradioactive single-strand conformational polymorphism analysis. Am J Pathol 1999;154:67-75. https://doi.org/10.1016/S0002-9440(10)65252-2
  6. Toga A, Wada T, Sakakibara Y, Mase S, Araki R, Tone Y, et al. Clinical significance of cloned expansion and CD5 down-regulation in Epstein-Barr Virus (EBV)-infected CD8+ T lymphocytes in EBV-associated hemophagocytic lymphohistiocytosis. J Infect Dis 2010;201:1923-32. https://doi.org/10.1086/652752
  7. Lin MT, Chang HM, Huang CJ, Chen WL, Lin CY, Chuang SS. Massive expansion of EBV+ monoclonal T cells with CD5 down regulation in EBV-associated haemophagocytic lymphohistiocytosis. J Clin Pathol 2007;60:101-3. https://doi.org/10.1136/jcp.2005.034371
  8. Wada T, Sakakibara Y, Nishimura R, Toma T, Ueno Y, Horita S, et al. Down-regulation of CD5 expression on activated CD8+ T cells in familial hemophagocytic lymphohistiocytosis with perforin gene mutations. Hum Immunol 2013;74:1579-85. https://doi.org/10.1016/j.humimm.2013.09.001
  9. Imashuku S, Hibi S, Tabata Y, Itoh E, Hashida T, Tsunamoto K, et al. Outcome of clonal hemophagocytic lymphohistiocytosis: analysis of 32 cases. Leuk Lymphoma 2000;37:577-84. https://doi.org/10.3109/10428190009058510
  10. Ishii E, Kimura N, Kato K, Sako M, Nagano M, Nakagawa A, et al. Clonal change of infiltrating T-cells in children with familial hemophagocytic lymphohistiocytosis: possible association with Epstein-Barr virus infection. Cancer 1999;85:1636-43. https://doi.org/10.1002/(SICI)1097-0142(19990401)85:7<1636::AID-CNCR28>3.0.CO;2-X

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  1. Flow Cytometric Analysis of T Cells in Hemophagocytic Lymphohistiocytosis vol.39, pp.5, 2015, https://doi.org/10.3343/alm.2019.39.5.430