A toll-like receptor 4 variant is associated with fatal outcome in children with invasive meningococcal disease

Acta Paediatrica, International Journal of Paediatrics

Volumn 98, Issue 3, 2009, Pages 548-552

  Faber, Joerg ^a,d   Henninger, Nicole ^a   Finn, Adam ^b   Zenz, Werner ^c   Zepp, Fred ^a   Knuf, Markus ^a  

^a JOHANNES GUTENBERG UNIVERSITY   (Germany)

^b UNIVERSITY OF BRISTOL   (United Kingdom)

^c UNIVERSITY OF GRAZ   (Austria)

^d BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

Innate immunity; Meningococcal disease; Toll like receptor 4

Indexed keywords

INOTROPIC AGENT; TOLL LIKE RECEPTOR 4;

ADOLESCENT; ARTICLE; ASSISTED VENTILATION; BACTERIAL INFECTION; CHILD; CHILDHOOD DISEASE; DISEASE DURATION; EPIDEMIC; FATALITY; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; GROUPS BY AGE; HUMAN; INFANT; INNATE IMMUNITY; LIMB AMPUTATION; MAJOR CLINICAL STUDY; MALE; MENINGOCOCCOSIS; MORTALITY; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SKIN TRANSPLANTATION; TOLL LIKE RECEPTOR 4 GENE;

ADOLESCENT; AMINO ACID SUBSTITUTION; CHILD; CHILD, PRESCHOOL; EUROPE; FEMALE; GENE FREQUENCY; GENOTYPE; HUMANS; INFANT; MALE; MENINGOCOCCAL INFECTIONS; TOLL-LIKE RECEPTOR 4; YOUNG ADULT;

EID: 59149086761     PISSN: 08035253     EISSN: 16512227     Source Type: Journal    
DOI: 10.1111/j.1651-2227.2008.01163.x     Document Type: Article

References (35)

1. van Deuren M, Brandtzaeg P, Van Der Meer JW. Update on meningococcal disease with emphasis on pathogenesis and clinical management. Clin Microbiol Rev 2000 13 : 144 66.
2. Hermans PW, Hazelzet JA. Plasminogen activator inhibitor type 1 gene polymorphism and sepsis. Clin Infect Dis 2005 41 (Suppl. 7 S453 8.
3. Medzhitov R, Preston-Hurlburt P, Janeway CA Jr. A human homologue of the Drosophila toll protein signals activation of adaptive immunity. Nature 1997 388 : 394 7.
4. Muzio M, Ni J, Feng P, Dixit VM. IRAK (Pelle) family member IRAK-2 and MyD88 as proximal mediators of IL-1 signaling. Science 1997 278 : 1612 15.
5. Hoebe K, Du X, Georgel P, Janssen E, Tabeta K, Kim SO, et al. Identification of Lps2 as a key transducer of MyD88-independent TIR signalling. Nature 2003 424 : 743 8.
6. Yamamoto M, Sato S, Hemmi H, Hoshino K, Kaisho T, Sanjo H, et al. Role of adaptor TRIF in the MyD88-independent toll-like receptor signaling pathway. Science 2003 301 : 640 3.
7. Horng T, Barton GM, Flavell RA, Medzhitov R. The adaptor molecule TIRAP provides signalling specificity for toll-like receptors. Nature 2002 420 : 329 33.
8. Yamamoto M, Sato S, Hemmi H, Uematsu S, Hoshino K, Kaisho T, et al. TRAM is specifically involved in the toll-like receptor 4-mediated MyD88-independent signaling pathway. Nat Immunol 2003 4 : 1144 50.
9. Waage A, Brandtzaeg P, Halstensen A, Kierulf P, Espevik T. The complex pattern of cytokines in serum from patients with meningococcal septic shock. Association between interleukin 6, interleukin 1, and fatal outcome. J Exp Med 1989 169 : 333 8.
10. Poltorak A, He X, Smirnova I, Liu MY, Van Huffel C, Du X, et al. Defective LPS signaling in C3H/HeJ and C57BL/10ScCr mice: mutations in Tlr4 gene. Science 1998 282 : 2085 8.
11. Bihl F, Lariviere L, Qureshi ST, Flaherty L, Malo D. LPS- hyporesponsiveness of mnd mice is associated with a mutation in toll-like receptor 4. Genes Immun 2001 2 : 56 9.
12. Woods JP, Frelinger JA, Warrack G, Cannon JG. Mouse genetic locus Lps influences susceptibility to Neisseria meningitidis infection. Infect Immun 1988 56 : 1950 5.
13. O'Brien AD, Rosenstreich DL, Scher I, Campbell GH, MacDermott RP, Formal SB. Genetic control of susceptibility to Salmonella typhimurium in mice: role of the LPS gene. J Immunol 1980 124 : 20 4.
14. Bihl F, Salez L, Beaubier M, Torres D, Lariviere L, Laroche L, et al. Overexpression of toll-like receptor 4 amplifies the host response to lipopolysaccharide and provides a survival advantage in transgenic mice. J Immunol 2003 170 : 6141 50.
15. Arbour NC, Lorenz E, Schutte BC, Zabner J, Kline JN, Jones M, et al. TLR4 mutations are associated with endotoxin hyporesponsiveness in humans. Nat Genet 2000 25 : 187 91.
16. Smirnova I, Mann N, Dols A, Derkx HH, Hibberd ML, Levin M, et al. Assay of locus-specific genetic load implicates rare toll-like receptor 4 mutations in meningococcal susceptibility. Proc Natl Acad Sci U S A 2003 100 : 6075 80.
17. Faber J, Meyer CU, Gemmer C, Russo A, Finn A, Murdoch C, et al. Human toll-like receptor 4 mutations are associated with susceptibility to invasive meningococcal disease in infancy. Pediatr Infect Dis J 2006 25 : 80 1.
18. Kiechl S, Lorenz E, Reindl M, Wiedermann CJ, Oberhollenzer F, Bonora E, et al. Toll-like receptor 4 polymorphisms and atherogenesis. N Engl J Med 2002 347 : 185 92.
19. Agnese DM, Calvano JE, Hahm SJ, Coyle SM, Corbett SA, Calvano SE, et al. Human toll-like receptor 4 mutations but not CD14 polymorphisms are associated with an increased risk of gram-negative infections. J Infect Dis 2002 186 : 1522 5.
20. Lorenz E, Mira JP, Frees KL, Schwartz DA. Relevance of mutations in the TLR4 receptor in patients with gram-negative septic shock. Arch Intern Med 2002 162 : 1028 32.
21. Waage A, Halstensen A, Espevik T. Association between tumour necrosis factor in serum and fatal outcome in patients with meningococcal disease. Lancet 1987 1 : 355 7.
22. Geishofer G, Binder A, Muller M, Zohrer B, Resch B, Muller W, et al. 4G/5G promoter polymorphism in the plasminogen-activator-inhibitor-1 gene in children with systemic meningococcaemia. Eur J Pediatr 2005 164 : 486 90.
23. Girardin E, Grau GE, Dayer JM, Roux-Lombard P, Lambert PH. Tumor necrosis factor and interleukin-1 in the serum of children with severe infectious purpura. N Engl J Med 1988 319 : 397 400.
24. Figueroa JE, Densen P. Infectious diseases associated with complement deficiencies. Clin Microbiol Rev 1991 4 : 359 95.
25. Child NJ, Yang IA, Pulletz MC, de Courcy-Golder K, Andrews AL, Pappachan VJ, et al. Polymorphisms in toll-like receptor 4 and the systemic inflammatory response syndrome. Biochem Soc Trans 2003 31 : 652 3.
26. Koch A, Melbye M, Sorensen P, Homoe P, Madsen HO, Molbak K, et al. Acute respiratory tract infections and mannose-binding lectin insufficiency during early childhood. JAMA 2001 285 : 1316 21.
27. Bax WA, Cluysenaer OJ, Bartelink AK, Aerts PC, Ezekowitz RA, van Dijk H. Association of familial deficiency of mannose-binding lectin and meningococcal disease. Lancet 1999 354 : 1094 5.
28. Hibberd ML, Sumiya M, Summerfield JA, Booy R, Levin M. Association of variants of the gene for mannose-binding lectin with susceptibility to meningococcal disease. Meningococcal Research Group. Lancet 1999 353 : 1049 53.
29. Faber J, Schuessler T, Finn A, Murdoch C, Zenz W, Habermehl P, et al. Age-dependent association of human mannose-binding lectin mutations with susceptibility to invasive meningococcal disease in childhood. Pediatr Infect Dis J 2007 26 : 243 6.
30. Kawai T, Adachi O, Ogawa T, Takeda K, Akira S. Unresponsiveness of MyD88-deficient mice to endotoxin. Immunity 1999 11 : 115 22.
31. Hermans PW, Hibberd ML, Booy R, Daramola O, Hazelzet JA, de Groot R, et al. 4G/5G promoter polymorphism in the plasminogen-activator-inhibitor-1 gene and outcome of meningococcal disease. Meningococcal Research Group. Lancet 1999 354 : 556 60.
32. Emonts M, de Bruijne EL, Guimaraes AH, Declerck PJ, Leebeek FW, de Maat MP, et al. Thrombin-activatable fibrinolysis inhibitor is associated with severity and outcome of severe meningococcal infection in children. J Thromb Haemost 2008 6 : 268 76.
33. Kremer Hovinga JA, Franco RF, Zago MA, Ten Cate H, Westendorp RG, Reitsma PH. A functional single nucleotide polymorphism in the thrombin-activatable fibrinolysis inhibitor (TAFI) gene associates with outcome of meningococcal disease. J Thromb Haemost 2004 2 : 54 7.
34. Binder A, Endler G, Rieger S, Geishofer G, Resch B, Mannhalter C, et al. Protein C promoter polymorphisms associate with sepsis in children with systemic meningococcemia. Hum Genet 2007 122 : 183 90.
35. Emonts M, Hazelzet JA, de Groot R, Hermans PW. Host genetic determinants of Neisseria meningitidis infections. Lancet Infect Dis 2003 3 : 565 77.