Genetic features of late onset primary hemophagocytic lymphohistiocytosis in adolescence or adulthood

PLoS ONE

Volumn 9, Issue 9, 2014, Pages

  Wang, Yini ^a   Wang, Zhao ^a   Zhang, Jia ^a   Wei, Qing ^a   Tang, Ran ^a   Qi, Junyuan ^b   Li, Lihong ^c   Ye, Liping ^d   Wang, Jijun ^e   Ye, Ling ^f  

^a CAPITAL MEDICAL UNIVERSITY   (China)

^b PEKING UNION MEDICAL COLLEGE   (China)

^c CAPITAL MEDICAL UNIVERSITY   (China)

^d 309TH HOSPITAL OF PLA   (China)

^e PEKING UNIVERSITY   (China)

^f Jining First People's Hospital Shandong   (China)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; SIGNALING LYMPHOCYTE ACTIVATION MOLECULE ASSOCIATED PROTEIN; X LINKED INHIBITOR OF APOPTOSIS; PERFORIN; PRF1 PROTEIN, HUMAN;

ADOLESCENT; ADULT; AGE; AGE DISTRIBUTION; AGED; ARTICLE; BIRC4 GENE; CHINA; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA FLANKING REGION; EXON; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC TRAIT; HEMOPHAGOCYTIC SYNDROME; HUMAN; HUMAN CELL; LABORATORY DIAGNOSIS; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; NATURAL KILLER CELL; NUCLEOTIDE SEQUENCE; ONSET AGE; PRF1 GENE; PRIMARY HEMOPHAGOCYTIC SYNDROME; RISK ASSESSMENT; SH2D1A GENE; STX11 GENE; STXBP2 GENE; UNC13D GENE; VIRUS INFECTION; YOUNG ADULT; DNA SEQUENCE; GENETIC SCREENING; GENETICS; IMMUNOLOGY; INFLAMMATION; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; MUTATION; VERY ELDERLY;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; AGED, 80 AND OVER; BASE SEQUENCE; CHINA; FEMALE; GENETIC TESTING; HUMANS; INFLAMMATION; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; MALE; MIDDLE AGED; MUTATION; PERFORIN; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 84907210985     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0107386     Document Type: Article

References (29)

1. Janka GE (2007) Familial and acquired hemophagocytic lymphohistiocytosis. Eur J Pediatr 166(2): 95-109.
2. Lykens JE, Terrell CE, Zoller EE, Risma K, Jordan MB (2011) Perforin is a critical physiologic regulator of T-cell activation. Blood 118(3): 618-626.
3. Henter JI, Samuelsson-Horne A, Arico M, Eqeler RM, Elinder G, et al. (2002) Treatment of hemophagocytic lymphohistiocytosis with HLH-94 immunoche-motherapy and bone marrow transplantation. Blood 100(7): 2367-2373.
4. Chandra P, Chaudhery SA, Rosener F, Kagen M (1975) Transient histocytosis with striking phagocytosis of platelets, leukocytes and erythrocytes. Arch Intern Med 135(7): 989-991.
5. Clementi R, Emmi L, Maccario R, Liotta F, Moretta L, et al. (2002) Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations. Blood 100(6): 2266-2267.
6. Mancebo E, Allende LM, Guzman M, Paz-Artal E, Gil J, et al. (2006) Familial hemophagocytic lymphohistiocytosis in an adult patient homozygous for A91V in the perforin gene, with tuberculosis infection. Haematologica 91(9): 1257-1260.
7. Nagafuji K, Nonami A, Kumano T, Kikushiqe Y, Yoshimoto G, et al. (2007) Perforin gene mutations in adult-onset hemophagocytic lymphohistiocytosis. Haematologica 92(7): 978-981.
8. Zhang K, Jordan MB, Marsh RA, Johnson JA, Kissell D, et al. (2011) Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH. Blood 118(22): 5794-5798.
9. Sieni E, Cetica V, Piccin A, Gherlinzoni F, Sasso FC, et al. (2012) Familial hemophagocytic lymphohistiocytosis may present during adulthood: Cinical and genetic features of a small series. PLoS One 7(9): e44649.
10. Stepp SE, Dufourcq-Lagelouse R, Le Deist F, Bhawan S, Certain S, et al. (1999) Perforin gene defects in familial hemophagocytic lymphohistiocytosis. Science 286(5446): 1957-1959.
11. Feldmann J, Callebaut I, Raposo G, Certain S, Bacq D, et al. (2003) Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). Cell 115(4): 461-473.
12. Zur Stadt U, Schmidt S, Kasper B, Beutel K, Diler AS, 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(6): 827-834.
13. Zur Stadt U, Rohr J, Seifert W, Koch F, Grieve S, et al. (2009) Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11. Am J Hum Genet 85(4): 482-492.
14. Arico M, Imashuku S, Clementi R, Hibi S, Teramura T, et al. (2001) Hemophagocytic lymphohistiocytosis due to germline mutations in SH2D1A, the X-linked lymphoproliferative disease gene. Blood 97(4): 1131-1133.
15. Rigaud S, Fondaneche MC, Lambert N, Pasquier B, Mateo V, et al. (2006) XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature 444(7115): 110-114.
16. Bizario JC, Feldman J, Castro FA, Menasche G, Jacob CM, et al. (2004) Griscelli syndrome: characterization of a new mutation and rescue of T-cytotoxic activity by retroviral transfer of RAB27A gene. J Clin Immunol 24(4): 397-410.
17. Westbroek W, Adams D, Huizing M, Koshoffer A, Dorward H, et al. (2007) Cellular defects in Chediak-Higashi syndrome correlate with the molecular genotype and clinical phenotype. J Invest Dermatol 127(11): 2674-2677.
18. Enders A, Zieger B, Schwarz K, Yoshimi A, Speckmann C, et al. (2006) Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II. Blood 108(1): 81-87.
19. Cetica V, Pende D, Griffiths GM, Arico M (2010) Molecular basis of familial hemophagocytic lymphohistiocytosis. Haematologica 95(4): 538-541.
20. Henter JI, Horne AC, Arico M, Egeler RM, Filipovich AH, et al. (2007) HLH-2004: Diagnostic and Therapeutic Guidelines for Hemophagocytic Lympho-histiocytosis. Pediatr Blood Cancer 48(2): 124-131.
21. Wang Z, Wang YN, Feng CC, Tian LP, Chen X (2008) Diagnostic significance of NK cell activity and soluble CD25 level in serum from patients with secondary hemophagocytic lymphohistiocytosis. Zhongguo Shi Yan Xue Ye Xue Za Zhi 16(5): 1154-1157.
22. Konjević G, Jurisić V, Banićevic B, Spuzić I (1999) The difference in NK-cell activity between patients with non-Hodgkin's lymphomas and Hodgkin's disease. Br J Haematol 104(1): 144-151.
23. Farquhar JW, Claireaux AE (1952) Familial haemophagocytic reticulosis. Arch Dis Child 27(136): 519-525.
24. Jordan MB, Allen CE, Weitzman S, Filipovich AH, McClain KL (2011) How I treat hemophagocytic lymphohistiocytosis. Blood 118(15): 4041-4052.
25. Zur Stadt U, Beutel K, Kolberg S, Schneppenheim R, Kabisch H, et al. (2006) Mutation spectrum in children with primary hemophagocytic lymphohistiocy-tosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A. Hum Mutat 27(1): 62-68.
26. Aricò M, Danesino C, Pende D, Moretta L (2001) Pathogenesis of haemophagocytic lymphohistiocytosis. Br J Haematol 114(4): 761-769.
27. Trizzino A, zur Stadt U, Ueda I, Risma K, Janka G, et al. (2008) Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations. J Med Genet 45(1): 15-21.
28. Woon ST, Ameratunga R, Croxson M, Taylor G, Neas K, et al. (2008) Follicular Lymphoma in a X-linked Lymphoproliferative Syndrome Carrier Female. Scand J Immunol 68(2): 153-158.
29. Bryceson YT, Pende D, Maul-Pavicic A, Gilmour KC, Ufheil H, et al. (2012) A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes. Blood 119(12): 2754-2763.