Immunogenetic profiling to predict risk of invasive fungal diseases: Where are we now?

Immunological Investigations

Volumn 40, Issue 7-8, 2011, Pages 723-734

  Cunha, Cristina ^a   Aversa, Franco ^a   Bistoni, Giovanni ^a   Casagrande, Andrea ^a,b   Rodrigues, Fernando ^c   Romani, Luigina ^a   Carvalho, Agostinho ^a,c  

^a UNIVERSITY OF PERUGIA   (Italy)

^b ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^c UNIVERSITY OF MINHO   (Portugal)

Author keywords

Fungal disease; Genetic susceptibility; Inflammation; Pattern recognition receptors

Indexed keywords

INTERFERON REGULATORY FACTOR; LECTIN RECEPTOR; MANNOSE BINDING LECTIN; TOLL LIKE RECEPTOR 1; TOLL LIKE RECEPTOR 2; TOLL LIKE RECEPTOR 3; TOLL LIKE RECEPTOR 4; TOLL LIKE RECEPTOR 5; TOLL LIKE RECEPTOR 6; TOLL LIKE RECEPTOR 7; TOLL LIKE RECEPTOR 8; TOLL LIKE RECEPTOR 9;

ALLOGENEIC STEM CELL TRANSPLANTATION; ANTIGEN PRESENTATION; ARTICLE; BLOODSTREAM INFECTION; CANDIDIASIS; DISEASE PREDISPOSITION; ENDOSOME; GENE LOCUS; GENE MAPPING; GENETIC POLYMORPHISM; GENETIC RISK; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HAPLOTYPE; HIGH RISK PATIENT; HISTOPLASMOSIS; HOST PATHOGEN INTERACTION; HUMAN; IMMUNE DEFICIENCY; IMMUNOGENETICS; IMMUNOSURVEILLANCE; INFECTION PREVENTION; INFECTION RISK; INNATE IMMUNITY; INVASIVE ASPERGILLOSIS; INVASIVE FUNGAL DISEASE; LUNG ASPERGILLOSIS; MOLECULAR RECOGNITION; MYCOSIS; PATHOGENESIS; PHENOTYPE; PREDICTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN PROTEIN INTERACTION; RISK ASSESSMENT; SIGNAL TRANSDUCTION; SOUTH AMERICAN BLASTOMYCOSIS; STRUCTURE ANALYSIS;

GENETIC PREDISPOSITION TO DISEASE; HUMANS; IMMUNITY; IMMUNOGENETICS; MYCOSES; POLYMORPHISM, GENETIC; RECEPTORS, PATTERN RECOGNITION; RISK FACTORS;

EID: 80053998920     PISSN: 08820139     EISSN: 15324311     Source Type: Journal    
DOI: 10.3109/08820139.2011.586395     Document Type: Article

References (43)

1. Arbour, N.C., Lorenz, E., Schutte, B.C., Zabner, J., Kline, J.N., Jones, M., Frees, K., Watt, J.L., and Schwartz, D.A.(2000).TLR4 mutations are associated with endotoxin hyporesponsiveness in humans.Nat.Genet.25:187-191. (Pubitemid 30394990)
2. Bellocchio, S., Montagnoli, C., Bozza, S., Gaziano, R., Rossi, G., Mambula, S.S., Vecchi, A., Mantovani, A., Levitz, S.M., and Romani, L.(2004).The contribution of the Toll-like/IL-1 receptor superfamily to innate and adaptive immunity to fungal pathogens in vivo.J.Immunol.172:3059-3069. (Pubitemid 38263695)
3. Bochud, P.Y., Chien, J.W., Marr, K.A., Leisenring, W.M., Upton, A., Janer, M., Rodrigues, S.D., Li, S., Hansen, J.A., Zhao, L.P., Aderem, A., and Boeckh, M.(2008).Toll-like receptor 4 polymorphisms and aspergillosis in stem-cell transplantation.N.Engl.J.Med.359:1766-1777.
4. Bonifazi, P., D'Angelo, C., Zagarella, S., Zelante, T., Bozza, S., De Luca, A., Giovannini, G., Moretti, S., Iannitti, R.G., Fallarino, F., Carvalho, A., Cunha, C., Bistoni, F., and Romani, L.(2010).Intranasally delivered siRNA targeting PI3K/Akt/mTOR inflammatory pathways protects from aspergillosis.: Mucosal Immunol.3193-205.
5. Bozzi, A., Pereira, P.P., Reis, B.S., Goulart, M.I., Pereira, M.C., Pedroso, E.P., Leite, M.F., and Goes, A.M.(2006).Interleukin-10 and tumor necrosis factor-alpha single nucleotide gene polymorphism frequency in paracoccidioidomycosis.Hum.Immunol.67:931-939. (Pubitemid 44828198)
6. Brouard, J., Knauer, N., Boelle, P.Y., Corvol, H., Henrion-Caude, A., Flamant, C., Bremont, F., Delaisi, B., Duhamel, J.F., Marguet, C., Roussey, M., Miesch, M.C., Chadelat, K., Boule, M., Fauroux, B., Ratjen, F., Grasemann, H., and Clement, A.(2005).Influence of interleukin-10 on Aspergillus fumigatus infection in patients with cystic fibrosis.J.Infect.Dis.191:1988-1991. (Pubitemid 40705408)
7. Brown, G.D.(2006).Dectin-1: a signalling non-TLR pattern-recognition receptor.Nat.Rev.Immunol.6:33-43. (Pubitemid 43279751)
8. Carvalho, A., Cunha, C., Carotti, A., Aloisi, T., Guarrera, O., Di Ianni, M., Falzetti, F., Bistoni, F., Aversa, F., Pitzurra, L., Rodrigues, F., and Romani, L.(2009).Polymorphisms in Toll-like receptor genes and susceptibility to infections in allogeneic stem cell transplantation.Exp.Hematol.37: 1022-1029.
9. Carvalho, A., Cunha, C., Di Ianni, M., Pitzurra, L., Aloisi, T., Falzetti, F., Carotti, A., Bistoni, F., Aversa, F., and Romani, L.(2010a).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 45: 1645-1652.
10. Carvalho, A., Cunha, C., Pasqualotto, A.C., Pitzurra, L., Denning, D.W., and Romani, L.(2010b).Genetic variability of innate immunity impacts human susceptibility to fungal diseases.Int.J.Infect.Dis.14:e460-468.
11. Carvalho, A., Pasqualotto, A.C., Pitzurra, L., Romani, L., Denning, D.W., and Rodrigues, F.(2008).Polymorphisms in toll-like receptor genes and susceptibility to pulmonary aspergillosis.J.Infect.Dis.197:618-621. (Pubitemid 351321541)
12. Cervera, C., Moreno, A., and Lozano, F.(2009).Toll-like receptor 4 polymorphisms and aspergillosis.N.Engl.J.Med.360 :634-635; author reply 635-636.
13. Chai, L.Y., de Boer, M.G., van der Velden, W.J., Plantinga, T.S., van Spriel, A.B., Jacobs, C., Halkes, C.J., Vonk, A.G., Blijlevens, N.M., van Dissel, J.T., Donnelly, P.J., Kullberg, B.J., Maertens, J., and Netea, M.G.(2011).The Y238X stop codon polymorphism in the human {beta}-glucan receptor dectin-1 and susceptibility to invasive aspergillosis.J.Infect.Dis.203:736-743.
14. Cunha, C., Di Ianni, M., Bozza, S., Giovannini, G., Zagarella, S., Zelante, T., D'Angelo, C., Pierini, A., Pitzurra, L., Falzetti, F., Carotti, A., Perruccio, K., Latge, J.P., Rodrigues, F., Velardi, A., Aversa, F., Romani, L., and Carvalho, A.(2010a).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 116:5394-5402.
15. Cunha, C., Rodrigues, F., Zelante, T., Aversa, F., Romani, L., and Carvalho, A.(2010b).Genetic susceptibility to aspergillosis in allogeneic stem-cell transplantation.Med.Mycol.49 Suppl 1:S137-143.
16. Cunha, C., Romani, L., and Carvalho, A.(2010c).Cracking the Toll-like receptor code in fungal infections.Expert Rev.Anti.Infect.Ther.8:1121-1137.
17. de Luca, A., Bozza, S., Zelante, T., Zagarella, S., D'Angelo, C., Perruccio, K., Vacca, C., Carvalho, A., Cunha, C., Aversa, F., and Romani, L.(2010).Non-hematopoietic cells contribute to protective tolerance to Aspergillus fumigatus via a TRIF pathway converging on IDO.Cell.Mol.Immunol.7: 459-470.
18. Ferwerda, B., Ferwerda, G., Plantinga, T.S., Willment, J.A., van Spriel, A.B., Venselaar, H., Elbers, C.C., Johnson,M.D., Cambi, A., Huysamen, C., Jacobs, L., Jansen, T., Verheijen, K., Masthoff, L., Morre, S.A., Vriend, G., Williams, D.L., Perfect, J.R., Joosten, L.A., Wijmenga, C., van der Meer, J.W., Adema, G.J., Kullberg, B.J., Brown, G.D., and Netea, M.G.(2009).Human dectin-1 deficiency and mucocutaneous fungal infections.N.Engl.J.Med.361:1760-1767.
19. Garred, P.(2008).Mannose-binding lectin genetics: from A to Z.Biochem.Soc.Trans.36:1461-1466.
20. Glocker, E.O., Hennigs, A., Nabavi, M., Schaffer, A.A., Woellner, C., Salzer, U., Pfeifer, D., Veelken, H., Warnatz, K., Tahami, F., Jamal, S., Manguiat, A., Rezaei, N., Amirzargar, A.A., Plebani, A., Hannesschlager, N., Gross, O., Ruland, J., and Grimbacher, B.(2009).A homozygous CARD9 mutation in a family with susceptibility to fungal infections.N.Engl.J.Med.361:1727-1735.
21. Granell, M., Urbano-Ispizua, A., Suarez, B., Rovira, M., Fernandez-Aviles, F., Martinez, C., Ortega, M., Uriburu, C., Gaya, A., Roncero, J.M., Navarro, A., Carreras, E., Mensa, J., Vives, J., Rozman, C., Montserrat, E., and Lozano, F.(2006).Mannan-binding lectin pathway deficiencies and invasive fungal infections following allogeneic stem cell transplantation.Exp.Hematol. 34:1435-1441. (Pubitemid 44374841)
22. Gringhuis, S.I., den Dunnen, J., Litjens, M., van der Vlist, M., Wevers, B., Bruijns, S.C., and Geijtenbeek, T.B.(2009).Dectin-1 directs T helper cell differentiation by controlling noncanonical NF-kappaB activation through Raf-1 and Syk.Nat.Immunol.10:203-213.
23. Kesh, S., Mensah, N.Y., Peterlongo, P., Jaffe, D., Hsu, K.M, V.D.B., O'Reilly, R., Pamer, E., Satagopan, J., and Papanicolaou, G.A.(2005).TLR1 and TLR6 polymorphisms are associated with susceptibility to invasive aspergillosis after allogeneic stem cell transplantation.Ann.N Y Acad.Sci.1062:95-103.
24. Lambourne, J., Agranoff, D., Herbrecht, R., Troke, P.F., Buchbinder, A., Willis, F., Letscher-Bru, V., Agrawal, S., Doffman, S., Johnson, E., White, P.L., Barnes, R.A., Griffin, G., Lindsay, J.A., and Harrison, T.S.(2009).Association of mannosebinding lectin deficiency with acute invasive aspergillosis in immunocompromised patients.Clin.Infect.Dis.49:1486-1491.
25. LeibundGut-Landmann, S., Gross, O., Robinson, M.J., Osorio, F., Slack, E.C., Tsoni, S.V., Schweighoffer, E., Tybulewicz, V., Brown, G.D., Ruland, J., and Reis e Sousa, C.(2007).Syk- and CARD9-dependent coupling of innate immunity to the induction of T helper cells that produce interleukin 17.Nat.Immunol.8: 630-638. (Pubitemid 46785127)
26. Levitz, S.M., Shoham, S., and Cleary, J.D.(2009).Toll-like receptor 4 polymorphisms and aspergillosis.N.Engl.J.Med.360:634; author reply 635-636.
27. Mezger, M., Steffens, M., Beyer, M., Manger, C., Eberle, J., Toliat, M.R., Wienker, T.F., Ljungman, P., Hebart, H., Dornbusch, H.J., Einsele, H., and Loeffler, J.(2008).Polymorphisms in the chemokine (C-X-C motif) ligand 10 are associated with invasive aspergillosis after allogeneic stem-cell transplantation and influence CXCL10 expression in monocyte-derived dendritic cells.Blood 111:534-536.
28. Moraes-Vasconcelos, D., Grumach, A.S., Yamaguti, A., Andrade, M.E., Fieschi, C., de Beaucoudrey, L., Casanova, J.L., and Duarte, A.J.(2005).Paracoccidioides brasiliensis disseminated disease in a patient with inherited deficiency in the beta1 subunit of the interleukin (IL)-12/IL-23 receptor.Clin.Infect.Dis.41:e31-37.
29. Plantinga, T.S., Johnsson, M., Scott, B., van de Vosse, E., Velez, D., van der Meer, J.W.M., van Dissel, J., Perfect, J., Kullberg, B.J., and Netea, M.G.(2009a).Toll like receptor 1 polymorphisms and susceptibility to invasive candidiasis.Sepsis 13 (Suppl 4): P28.
30. Plantinga, T.S., van der Velden, W.J., Ferwerda, B., van Spriel, A.B., Adema, G., Feuth, T., Donnelly, J.P., Brown, G.D., Kullberg, B.J., Blijlevens, N.M., and Netea, M.G.(2009b).Early stop polymorphism in human DECTIN-1 is associated with increased candida colonization in hematopoietic stem cell transplant recipients.Clin.Infect.Dis.49:724-732.
31. Puel, A., Cypowyj, S., Bustamante, J., Wright, J.F., Liu, L., Lim, H.K., Migaud, M., Israel, L., Chrabieh, M., Audry, M., Gumbleton, M., Toulon, A., Bodemer, C., El-Baghdadi, J., Whitters, M., Paradis, T., Brooks, J., Collins, M., Wolfman, N.M., Al-Muhsen, S., Galicchio, M., Abel, L., Picard, C., and Casanova, J.L.(2011).Chronicmucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity.Science, in print.
32. Sainz, J., Hassan, L., Perez, E., Romero, A., Moratalla, A., Lopez-Fernandez, E., Oyonarte, S., and Jurado, M.(2007a).Interleukin-10 promoter polymorphism as risk factor to develop invasive pulmonary aspergillosis. Immunol.Lett.109:76-82. (Pubitemid 46371411)
33. Sainz, J., Perez, E., Gomez-Lopera, S., and Jurado, M.(2008).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.28:473-485.
34. Sainz, J., Perez, E., Hassan, L., Moratalla, A., Romero, A., Collado, M.D., and Jurado, M.(2007b).Variable number of tandem repeats of TNF receptor type 2 promoter as genetic biomarker of susceptibility to develop invasive pulmonary aspergillosis.Hum.Immunol.68:41-50. (Pubitemid 46026885)
35. Sainz, J., Salas-Alvarado, I., Lopez-Fernandez, E., Olmedo, C., Comino, A., Garcia, F., Blanco, A., Gomez-Lopera, S., Oyonarte, S., Bueno, P., and Jurado, M.(2010).TNFR1 mRNA expression level and TNFR1 gene polymorphisms are predictive markers for susceptibility to develop invasive pulmonary aspergillosis.Int.J.Immunopathol.Pharmacol.23:423-436.
36. Seo, K.W., Kim, D.H., Sohn, S.K., Lee, N.Y., Chang, H.H., Kim, S.W., Jeon, S.B., Baek, J.H., Kim, J.G., Suh, J.S., and Lee, K.B.(2005).Protective role of interleukin-10 promoter gene polymorphism in the pathogenesis of invasive pulmonary aspergillosis after allogeneic stem cell transplantation.Bone Marrow Transplant 36:1089-1095. (Pubitemid 43078138)
37. Singh, N., and Perfect, J.R.(2007).Immune reconstitution syndrome associated with opportunistic mycoses.Lancet Infect.Dis.7:395-401. (Pubitemid 46765196)
38. Van der Graaf, C.A., Netea, M.G., Morre, S.A., Den Heijer, M., Verweij, P.E., Van der Meer, J.W., and Kullberg, B.J.(2006).Toll-like receptor 4 Asp299Gly/Thr399Ile polymorphisms are a risk factor for Candida bloodstream infection.Eur.Cytokine Netw.17:29-34.
39. Weindl, G., Naglik, J.R., Kaesler, S., Biedermann, T., Hube, B., Korting, H.C., and Schaller, M.(2007).Human epithelial cells establish direct antifungal defense through TLR4-mediated signaling.J.Clin.Invest.117,:3664-3672. (Pubitemid 350224078)
40. Werner, J.L., Metz, A.E., Horn, D., Schoeb, T.R., Hewitt, M.M., Schwiebert, L.M., Faro-Trindade, I., Brown, G.D., and Steele, C.(2009).Requisite role for the dectin-1 β-glucan receptor in pulmonary defense against Aspergillus fumigatus.J.Immunol.182:4938-4946.
41. Woehrle, T., Du,W., Goetz, A., Hsu, H.Y., Joos, T.O.,Weiss, M., Bauer, U., Brueckner, U.B., and Marion Schneider, E.(2008).Pathogen specific cytokine release reveals an effect of TLR2 Arg753Gln during Candida sepsis in humans.Cytokine 41:322-329.
42. Zaas, A.K., Liao, G., Chien, J.W., Weinberg, C., Shore, D., Giles, S.S., Marr, K.A., Usuka, J., Burch, L.H., Perera, L., Perfect, J.R., Peltz, G., and Schwartz, D.A.(2008).Plasminogen alleles influence susceptibility to invasive aspergillosis.PLoS Genet 4:e1000101.
43. Zerbe, C.S., and Holland, S.M.(2005).Disseminated histoplasmosis in persons with interferon-gamma receptor 1 deficiency.Clin.Infect.Dis.41:e38-41.