Genetic variants and the risk for invasive mould disease in immunocompromised hematology patients

Current Opinion in Infectious Diseases

Volumn 24, Issue 6, 2011, Pages 554-563

  Van Der Velden, Walter J F M ^a   Blijlevens, Nicole M A ^a   Donnelly, J Peter ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Dectin 1; Fungal infection; Genetic association studies; Mould disease; Pattern recognition receptor; Single nucleotide polymorphisms

Indexed keywords

CHEMOKINE; CYTOKINE; MANNOSE BINDING LECTIN; PLASMINOGEN; TOLL LIKE RECEPTOR;

ANTIFUNGAL ACTIVITY; ASPERGILLUS FUMIGATUS; CANDIDA; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; GENETIC VARIABILITY; HOST; HUMAN; IMMUNOCOMPROMISED PATIENT; NONHUMAN; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMIC MYCOSIS; T CELL DEPLETION; TH17 CELL;

CYTOKINES; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HEMATOLOGIC DISEASES; HUMANS; IMMUNOCOMPROMISED HOST; MYCOSES; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS; TOLL-LIKE RECEPTOR 4;

EID: 80054970498     PISSN: 09517375     EISSN: 14736527     Source Type: Journal    
DOI: 10.1097/QCO.0b013e32834ab1f4     Document Type: Review

References (70)

1. Mullally A, Ritz J. Beyond HLA: the significance of genomic variation for allogeneic hematopoietic stem cell transplantation. Blood 2007; 109:1355-1362. (Pubitemid 46239565)
2. Barrett JC, Hansoul S, Nicolae DL, et al. Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. Nat Genet 2008; 40:955-962.
3. Seshadri S, Fitzpatrick AL, Ikram MA, et al. Genome-wide analysis of genetic loci associated with Alzheimer disease. J Am Med Assoc 2010; 303:1832-1840.
4. Barrett JC, Clayton DG, Concannon P, et al. Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. Nat Genet 2009; 41:703-707.
5. Ioannidis JP. Why most published research findings are false. PLoS Med 2005; 2:e124.
6. Mullighan CG, Bardy PG. New directions in the genomics of allogeneic hematopoietic stem cell transplantation. Biol Blood Marrow Transplant 2007; 13:127-144. (Pubitemid 46112373)
7. Dickinson AM, Middleton PG. Beyond the HLA typing age: genetic polymorphisms predicting transplant outcome. Blood Rev 2005; 19:333-340. (Pubitemid 41571933)
8. Pagano L, Caira M, Valentini CG, et al. Current therapeutic approaches to fungal infections in immunocompromised hematological patients. Blood Rev 2010; 24:51-61.
9. Leventakos K, Lewis RE, Kontoyiannis DP., Fungal infections in leukemia patients: How do we prevent and treat them? Clin Infect Dis 2010; 50:405-415
10. Michallet M, Ito JI. Approaches to the management of invasive fungal infections in hematologic malignancy and hematopoietic cell transplantation. J Clin Oncol 2009; 27:3398-3409.
11. Pagano L, Akova M, Dimopoulos G, et al. Risk assessment and prognostic factors for mould-related diseases in immunocompromised patients. J Antimicrob Chemother 2011; 66 (SUPPL. 1):i5-i14.
12. Malani AN, Kauffman CA. Changing epidemiology of rare mould infections: implications for therapy. Drugs 2007; 67:1803-1812. (Pubitemid 47347394)
13. Kontoyiannis DP, Marr KA, Park BJ, et al. Prospective surveillance for invasive fungal infections in hematopoietic stem cell transplant recipients, 2001-2006: overview of the Transplant-Associated Infection Surveillance Network (TRANSNET) Database. Clin Infect Dis 2010; 50:1091-1100.
14. Pagano L, Caira M, Candoni A, et al. The epidemiology of fungal infections in patients with hematologic malignancies: the SEIFEM-2004 study. Haematologica 2006; 91:1068-1075. (Pubitemid 44208634)
15. Slavin MA, Osborne B, Adams R, et al. Efficacy and safety of fluconazole prophylaxis for fungal infections after marrow transplantation: A prospective, randomized, double-blind study. J Infect Dis 1995; 171:1545-1552.
16. Upton A, Kirby KA, Carpenter P, et al. Invasive aspergillosis following hematopoietic cell transplantation: outcomes and prognostic factors associated with mortality. Clin Infect Dis 2007; 44:531-540. (Pubitemid 46233255)
17. Pagano L, Caira M, Picardi M, et al. Invasive aspergillosis in patients with acute leukemia: update on morbidity and mortality: SEIFEM-C Report. Clin Infect Dis 2007; 44:1524-1525. (Pubitemid 46801604)
18. Maertens J, Groll AH, Cordonnier C, et al. Treatment and timing in invasive mould disease. J Antimicrob Chemother 2011; 66 (SUPPL. 1):i37-i43.
19. Freemantle N, Tharmanathan P, Herbrecht R. Systematic review and mixed treatment comparison of randomized evidence for empirical, preemptive and directed treatment strategies for invasive mould disease. J Antimicrob Chemother 2011; 66 (SUPPL. 1):i25-i35.
20. Cuenca-Estrella M, Bassetti M, Lass-Florl C, et al. Detection and investigation of invasive mould disease. J Antimicrob Chemother 2011; 66 (SUPPL. 1):i15-i24.
21. Verweij PE, Mellado E, Melchers WJ. Multiple-triazole-resistant aspergillosis. N Engl J Med 2007; 356:1481-1483.
22. Prentice HG, Kibbler CC, Prentice AG. Towards a targeted, risk-based, antifungal strategy in neutropenic patients. Br J Haematol 2000; 110: 273-284. (Pubitemid 30646851)
23. Rivera A, Hohl T, Pamer EG. Immune responses to Aspergillus fumigatus infections. Biol Blood Marrow Transplant 2006; 12 (1 SUPPL. 1):47-49. (Pubitemid 43034119)
24. Park SJ, Mehrad B. Innate immunity to Aspergillus species. Clin Microbiol Rev 2009; 22:535-551.
25. Romani L. Immunity to fungal infections. Nat Rev Immunol 2004; 4:1-23.
26. Conti HR, Gaffen SL. Host responses to Candida albicans: Th17 cells and mucosal candidiasis. Microbes Infect 2010; 12:518-527.
27. Netea MG, Brown GD, Kullberg BJ, Gow NA. An integrated model of the recognition of Candida albicans by the innate immune system. Nat Rev Microbiol 2008; 6:67-78. (Pubitemid 350286221)
28. Conti HR, Shen F, Nayyar N, et al. Th17 cells and IL-17 receptor signaling are essential for mucosal host defense against oral candidiasis. J Exp Med 2009; 206:299-311.
29. van de Veerdonk FL, Netea MG. T-cell subsets and antifungal host defenses. Curr Fungal Infect Rep 2010; 4:238-243.
30. van de Veerdonk FL, Kullberg BJ, van der Meer JW, et al. Host-microbe interactions: innate pattern recognition of fungal pathogens. Curr Opin Microbiol 2008; 11:305-312.
31. Joly S, Sutterwala FS. Fungal pathogen recognition by the NLRP3 inflammasome. Virulence 2010; 1:276-280.
32. Geddes M, Storek J. Immune reconstitution following hematopoietic stem-cell transplantation. Best Pract Res Clin Haematol 2007; 20:329-348. (Pubitemid 46585969)
33. Kallianpur AR., Genomic screening and complications of hematopoietic stem cell transplantation: Has the time come? Bone Marrow Transplant 2005; 35:1-16 (Pubitemid 40090050)
34. Tomblyn M, Chiller T, Einsele H, et al. Guidelines for preventing infectious complications among hematopoietic cell transplant recipients: A global perspective. Preface Bone Marrow Transplant 2009; 44:453-455.
35. Kesh S, Mensah NY, Peterlongo P, et al. TLR1 and TLR6 polymorphisms are associated with susceptibility to invasive aspergillosis after allogeneic stem cell transplantation. Ann N Y Acad Sci 2005; 1062:95-103.
36. Bochud PY, Chien JW, Marr KA, et al., Toll-like Receptor. 4 polymorphisms and aspergillosis in stem-cell transplantation. N Engl JMed 2008; 359: 1766-1777.
37. Carvalho A, Cunha C, Carotti A, et al. Polymorphisms in Toll-like receptor genes and susceptibility to infections in allogeneic stem cell transplantation. Exp Hematol 2009; 37:1022-1029.
38. de Boer MG, Jolink H, Halkes CJ, et al. Influence of polymorphisms in innate immunity genes on susceptibility to invasive aspergillosis after stem cell transplantation. PLoS One 2011; 6:e18403.
39. Cunha C, Di IM, Bozza S, et al. Dectin-1 Y238X polymorphism associates with susceptibility to invasive aspergillosis in hematopoietic transplantation through impairment of both recipient- and donor-dependent mechanisms of antifungal immunity. Blood 2010; 116:5394-5402.
40. Chai LY, de Boer MG, van der Velden WJ, et al. The Y238X stop codon polymorphism in the human {beta}-glucan receptor dectin-1 and susceptibility to invasive aspergillosis. J Infect Dis 2011; 203:736-743.
41. Granell M, Urbano-Ispizua A, Suarez B, et al. Mannan-binding lectin pathway deficiencies and invasive fungal infections following allogeneic stem cell transplantation. Exp Hematol 2006; 34:1435-1441. (Pubitemid 44374841)
42. Neth OW, Bacher U, Das P, et al. Influence of mannose-binding lectin genotypes and serostatus in allo-SCT: analysis of 131 recipients and donors. Bone Marrow Transplant 2010; 45:13-19.
43. Seo KW, Kim DH, Sohn SK, et al. Protective role of interleukin-10 promoter gene polymorphism in the pathogenesis of invasive pulmonary aspergillosis after allogeneic stem cell transplantation. Bone Marrow Transplant 2005; 36:1089-1095. (Pubitemid 43078138)
44. Mezger M, Steffens M, Beyer M, et al. Polymorphisms in the chemokine (C-XC motif) ligand 10 are associated with invasive aspergillosis after allogeneic stem-cell transplantation and influence CXCL10 expression in monocytederived dendritic cells. Blood 2008; 111:534-536.
45. Carvalho A, Cunha C, Di IM, et al. Prognostic significance of genetic variants in the IL-23/Th17 pathway for the outcome of T cell-depleted allogeneic stem cell transplantation. Bone Marrow Transplant 2010; 45:1645-1652.
46. Zaas AK, Liao G, Chien JW, et al. Plasminogen alleles influence susceptibility to invasive aspergillosis. PLoS Genet 2008; 4:e1000101.
47. Sainz J, Perez E, Gomez-Lopera S, Jurado M. IL1 gene cluster polymorphisms and its haplotypes may predict the risk to develop invasive pulmonary aspergillosis and modulate C-reactive protein level. J Clin Immunol 2008; 28:473-485.
48. Sainz J, Perez E, Gomez-Lopera S, et al. Genetic variants of IL6 gene promoter influence on C-reactive protein levels but are not associated with susceptibility to invasive pulmonary aspergillosis in haematological patients. Cytokine 2008; 41:268-278.
49. Sainz J, Hassan L, Perez E, et al. Interleukin-10 promoter polymorphism as risk factor to develop invasive pulmonary aspergillosis. Immunol Lett 2007; 109:76-82. (Pubitemid 46371411)
50. Sainz J, Salas-Alvarado I, Lopez-Fernandez E, et al. TNFR1 mRNA expression level and TNFR1 gene polymorphisms are predictive markers for susceptibility to develop invasive pulmonary aspergillosis. Int J Immunopathol Pharmacol 2010; 23:423-436.
51. Sainz J, Perez E, Hassan L, et al. Variable number of tandem repeats of TNF receptor type 2 promoter as genetic biomarker of susceptibility to develop invasive pulmonary aspergillosis. Hum Immunol 2007; 68:41-50. (Pubitemid 46026885)
52. Ascioglu S,Rex JH, de PB, et al.Defining opportunistic invasive fungal infections in immunocompromised patients with cancer and hematopoietic stem cell transplants: an international consensus. Clin Infect Dis 2002; 34:7-14. (Pubitemid 33152659)
53. de Pauw B, Walsh TJ, Donnelly JP, et al. Revised definitions of invasive fungal disease from the European Organization for Research and Treatment of Cancer/Invasive Fungal Infections Cooperative Group and the National Institute of Allergy and Infectious Diseases Mycoses Study Group (EORTC/MSG) Consensus Group. Clin Infect Dis 2008; 46:1813-1821.
54. Arbour NC, Lorenz E, Schutte BC, et al. TLR4 mutations are associated with endotoxin hyporesponsiveness in humans. Nat Genet 2000; 25:187-191. (Pubitemid 30394990)
55. Michel O, LeVan TD, Stern D, et al. Systemic responsiveness to lipopolysaccharide and polymorphisms in the toll-like receptor 4 gene in human beings. J Allergy Clin Immunol 2003; 112:923-929. (Pubitemid 37412060)
56. Ferwerda B, Ferwerda G, Plantinga TS, et al. Human dectin-1 deficiency and mucocutaneous fungal infections. N Engl J Med 2009; 361:1760-1767.
57. Glocker EO, Hennigs A, Nabavi M, et al. A homozygous CARD9 mutation in a family with susceptibility to fungal infections. N Engl J Med 2009; 361:1727-1735.
58. Plantinga TS, van der Velden WJ, Ferwerda B, et al. Early stop polymorphism in human DECTIN-1 is associated with increased candida colonization in hematopoietic stem cell transplant recipients. Clin Infect Dis 2009; 49:724-732.
59. Neth O, Jack DL, Dodds AW, et al. Mannose-binding lectin binds to a range of clinically relevant microorganisms and promotes complement deposition. Infect Immun 2000; 68:688-693. (Pubitemid 30056524)
60. Molle I, Peterslund NA, Thiel S, Steffensen R. MBL2 polymorphism and risk of severe infections in multiple myeloma patients receiving high-dose melphalan and autologous stem cell transplantation. Bone Marrow Transplant 2006; 38:555-560. (Pubitemid 44509548)
61. Mullighan CG, Heatley SL, Danner S, et al. Mannose-binding lectin status is associated with risk of major infection following myeloablative sibling allogeneic hematopoietic stem cell transplantation. Blood 2008; 112: 2120-2128.
62. Elmaagacli AH, Koldehoff M, Landt O, Beelen DW. Relation of an interleukin-23 receptor gene polymorphism to graft-versus-host disease after hematopoietic- cell transplantation. Bone Marrow Transplant 2008; 41:821-826. (Pubitemid 351696347)
63. Colhoun HM, McKeigue PM, Davey SG. Problems of reporting genetic associations with complex outcomes. Lancet 2003; 361:865-872. (Pubitemid 36331853)
64. Attia J, Ioannidis JP, Thakkinstian A, et al., How to Use An Article about Genetic Association: C: What Are the Results and Will They Help Me in Caring for My Patients? J Am Med Assoc 2009; 301:304-308
65. Attia J, Ioannidis JP, Thakkinstian A, et al. How to use an article about genetic association: B: are the results of the study valid? J Am Med Assoc 2009; 301:191-197.
66. Attia J, Ioannidis JP, Thakkinstian A, et al. How to use an article about genetic association: A: background concepts. J Am Med Assoc 2009; 301:74-81.
67. van der Velden WJ, Feuth T, Stevens WB, et al. Issues in genetic association studies: limitations of statistical analysis and biological plausibility. Bone Marrow Transplant 2010; 46:906-907.
68. Wacholder S, Chanock S, Garcia-Closas M, et al. Assessing the probability that a positive report is false: an approach for molecular epidemiology studies. J Natl Cancer Inst 2004; 96:434-442. (Pubitemid 38443646)
69. Risch NJ. Searching for genetic determinants in the new millennium. Nature 2000; 405:847-856. (Pubitemid 30407863)
70. Talmud PJ, Hingorani AD, Cooper JA, et al. Utility of genetic and nongenetic risk factors in prediction of type 2 diabetes: Whitehall II prospective cohort study. Br Med J 2010; 340:b4838.