Unravelling fungal immunity through primary immune deficiencies

Current Opinion in Microbiology

Volumn 15, Issue 4, 2012, Pages 420-426

  Lilic, Desa ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CASPASE RECRUITMENT DOMAIN SIGNALING PROTEIN; CYTOKINE ANTIBODY; DECTIN 1; INTERLEUKIN 12 RECEPTOR BETA1; INTERLEUKIN 17 RECEPTOR; INTERLEUKIN 17F; PROTEIN CARD 9; STAT1 PROTEIN; STAT3 PROTEIN; UNCLASSIFIED DRUG;

ADAPTIVE IMMUNITY; ASPERGILLUS; CANDIDA; CANDIDIASIS; CRYPTOCOCCUS; DERMATOPHYTE; DERMATOPHYTOSIS; FUNGUS IMMUNITY; HUMAN; IMMUNE DEFICIENCY; INFECTION SENSITIVITY; INNATE IMMUNITY; MUCOCUTANEOUS CANDIDIASIS; MYCOSIS; NONHUMAN; REVIEW; RISK FACTOR; TH17 CELL;

ADAPTIVE IMMUNITY; ANIMALS; CYTOKINES; FUNGI; HUMANS; IMMUNITY, INNATE; IMMUNOLOGIC DEFICIENCY SYNDROMES; MYCOSES; TH17 CELLS;

ASPERGILLUS; CANDIDA; FUNGI;

EID: 84865302656     PISSN: 13695274     EISSN: 18790364     Source Type: Journal    
DOI: 10.1016/j.mib.2012.06.003     Document Type: Review

References (55)

1. Pfaller M.A., Diekema D.J. Epidemiology of invasive mycoses in North America. Crit Rev Microbiol 2010, 36:1-53.
2. Gallo R.L., Nakatsuji T. Microbial symbiosis with the innate immune defense system of the skin. J Invest Dermatol 2011, 131:1974-1980.
3. Romani L. Immunity to fungal infections. Nat Rev Immunol 2011, 11:275-288.
4. Netea M.G., Van der Graaf C., Van der Meer J.W., Kullberg B.J. Recognition of fungal pathogens by Toll-like receptors. Eur J Clin Microbiol Infect Dis 2004, 23:672-676.
5. Picard C., Casanova J.L., Puel A. Infectious diseases in patients with IRAK-4, MyD88, NEMO, or IkappaBalpha deficiency. Clin Microbiol Rev 2011, 24:490-497.
6. Sancho-Shimizu V., de Diego R.P., Jouanguy E., Zhang S.Y., Casanova J.L. Inborn errors of anti-viral interferon immunity in humans. Curr Opin Virol 2011, 1:487-496.
7. Netea M.G., van der Meer J.W. Immunodeficiency and genetic defects of pattern-recognition receptors. N Engl J Med 2011, 364:60-70.
8. Nahum A., Dadi H., Bates A., Roifman C.M. The biological significance of TLR3 variant, L412F, in conferring susceptibility to cutaneous candidiasis, CMV and autoimmunity. Autoimmun Rev 2012, 11:341-347.
9. 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., et al. Human dectin-1 deficiency and mucocutaneous fungal infections. N Engl J Med 2009, 361:1760-1767.
10. Glocker E.O., Hennigs A., Nabavi M., Schaffer A.A., Woellner C., Salzer U., Pfeifer D., Veelken H., Warnatz K., Tahami F., et al. A homozygous CARD9 mutation in a family with susceptibility to fungal infections. N Engl J Med 2009, 361:1727-1735.
11. Netea M.G., Brown G.D., Kullberg B.J., Gow N.A. An integrated model of the recognition of Candida albicans by the innate immune system. Nat Rev Microbiol 2008, 6:67-78.
12. van de Veerdonk F.L., Gresnigt M.S., Kullberg B.J., van der Meer J.W., Joosten L.A., Netea M.G. Th17 responses and host defense against microorganisms: an overview. BMB Rep 2009, 42:776-787.
13. Puel A., Picard C., Cypowyj S., Lilic D., Abel L., Casanova J.L. Inborn errors of mucocutaneous immunity to Candida albicans in humans: a role for IL-17 cytokines?. Curr Opin Immunol 2010, 22:467-474.
14. Chapel H. Classification of primary immunodeficiency diseases by the International Union of Immunological Societies (IUIS) Expert Committee on Primary Immunodeficiency 2011. Clin Exp Immunol 2012, 168:58-59.
15. Casanova J.L., Fieschi C., Zhang S.Y., Abel L. Revisiting human primary immunodeficiencies. J Intern Med 2008, 264:115-127.
16. Perfect J.R. The impact of the host on fungal infections. Am J Med 2012, 125:S39-S51.
17. Moyes D.L., Murciano C., Runglall M., Islam A., Thavaraj S., Naglik J.R. Candida albicans yeast and hyphae are discriminated by MAPK signaling in vaginal epithelial cells. PLoS ONE 2011, 6:e26580.
18. Antachopoulos C., Walsh T.J., Roilides E. Fungal infections in primary immunodeficiencies. Eur J Pediatr 2007, 166:1099-1117.
19. Vinh D.C. Insights into human antifungal immunity from primary immunodeficiencies. Lancet Infect Dis 2011, 11:780-792.
20. Naglik J.R., Fidel P.L., Odds F.C. Animal models of mucosal Candida infection. FEMS Microbiol Lett 2008, 283:129-139.
21. Grimbacher B., Holland S.M., Gallin J.I., Greenberg F., Hill S.C., Malech H.L., Miller J.A., O'Connell A.C., Puck J.M. Hyper-IgE syndrome with recurrent infections - an autosomal dominant multisystem disorder. N Engl J Med 1999, 340:692-702.
22. Holland S.M., DeLeo F.R., Elloumi H.Z., Hsu A.P., Uzel G., Brodsky N., Freeman A.F., Demidowich A., Davis J., Turner M.L., et al. STAT3 mutations in the hyper-IgE syndrome. N Engl J Med 2007, 357:1608-1619.
23. Minegishi Y., Saito M., Tsuchiya S., Tsuge I., Takada H., Hara T., Kawamura N., Ariga T., Pasic S., Stojkovic O., et al. Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. Nature 2007, 448:1058-1062.
24. Ma C.S., Chew G.Y., Simpson N., Priyadarshi A., Wong M., Grimbacher B., Fulcher D.A., Tangye S.G., Cook M.C. Deficiency of Th17 cells in hyper IgE syndrome due to mutations in STAT3. J Exp Med 2008, 205:1551-1557.
25. Milner J.D., Brenchley J.M., Laurence A., Freeman A.F., Hill B.J., Elias K.M., Kanno Y., Spalding C., Elloumi H.Z., Paulson M.L., et al. Impaired T(H)17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome. Nature 2008, 452:773-776.
26. Engelhardt K.R., McGhee S., Winkler S., Sassi A., Woellner C., Lopez-Herrera G., Chen A., Kim H.S., Lloret M.G., Schulze I., et al. Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome. J Allergy Clin Immunol 2009, 124. 1289-1302 e1284.
27. Minegishi Y., Saito M., Morio T., Watanabe K., Agematsu K., Tsuchiya S., Takada H., Hara T., Kawamura N., Ariga T., et al. Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. Immunity 2006, 25:745-755.
28. Al Khatib S., Keles S., Garcia-Lloret M., Karakoc-Aydiner E., Reisli I., Artac H., Camcioglu Y., Cokugras H., Somer A., Kutukculer N., et al. Defects along the T(H)17 differentiation pathway underlie genetically distinct forms of the hyper IgE syndrome. J Allergy Clin Immunol 2009, 124:342-348. 348 e341-345.
29. Kilic S.S., Hacimustafaoglu M., Boisson-Dupuis S., Kreins A.Y., Grant A.V., Abel L., Casanova J.L. A patient with tyrosine kinase 2 deficiency without hyper-IgE syndrome. J Pediatr 2012, 160:1055-1057.
30. 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., et al. Syk- and CARD9-dependent coupling of innate immunity to the induction of T helper cells that produce interleukin 17. Nat Immunol 2007, 8:630-638.
31. Puel A., Cypowyj S., Bustamante J., Wright J.F., Liu L., Lim H.K., Migaud M., Israel L., Chrabieh M., Audry M., et al. Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity. Science 2011, 332:65-68.
32. van de Veerdonk F.L., Plantinga T.S., Hoischen A., Smeekens S.P., Joosten L.A., Gilissen C., Arts P., Rosentul D.C., Carmichael A.J., Smits-van der Graaf C.A., et al. STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. N Engl J Med 2011, 365:54-61.
33. Liu L., Okada S., Kong X.F., Kreins A.Y., Cypowyj S., Abhyankar A., Toubiana J., Itan Y., Audry M., Nitschke P., et al. Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. J Exp Med 2011, 208:1635-1648.
34. Smeekens S.P., Plantinga T.S., van de Veerdonk F.L., Heinhuis B., Hoischen A., Joosten L.A., Arkwright P.D., Gennery A., Kullberg B.J., Veltman J.A., et al. STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis. PLoS ONE 2011, 6:e29248.
35. Averbuch D., Chapgier A., Boisson-Dupuis S., Casanova J.L., Engelhard D. The clinical spectrum of patients with deficiency of Signal Transducer and Activator of Transcription-1. Pediatr Infect Dis J 2011, 30:352-355.
36. Takezak S., Yamada M., Kato M., Park M.-j., Maruyama K., Yamazaki Y., Chida N., Ohara O., Kobayashi I., Ariga T. Chronic Mucocutaneous Candidiasis Caused by a Gain-of-Function Mutation in the STAT1 DNA-Binding Domain. J Immunol 2012, June 22, http://dx.doi.org/10.4049/jimmunol.1200926.
37. Ng W.F., von Delwig A., Carmichael A.J., Arkwright P.D., Abinun M., Cant A.J., Jolles S., Lilic D. Impaired T(H)17 responses in patients with chronic mucocutaneous candidiasis with and without autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. J Allergy Clin Immunol 2010, 126:1006-1015. 1015 e1001-1004.
38. de Beaucoudrey L., Samarina A., Bustamante J., Cobat A., Boisson-Dupuis S., Feinberg J., Al-Muhsen S., Janniere L., Rose Y., de Suremain M., et al. Revisiting human IL-12Rbeta1 deficiency: a survey of 141 patients from 30 countries. Medicine (Baltimore) 2010, 89:381-402.
39. de Beaucoudrey L., Puel A., Filipe-Santos O., Cobat A., Ghandil P., Chrabieh M., Feinberg J., von Bernuth H., Samarina A., Janniere L., et al. Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. J Exp Med 2008, 205:1543-1550.
40. Sologuren I., Boisson-Dupuis S., Pestano J., Vincent Q.B., Fernandez-Perez L., Chapgier A., Cardenes M., Feinberg J., Garcia-Laorden M.I., Picard C., et al. Partial recessive IFN-gammaR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds. Hum Mol Genet 2011, 20:1509-1523.
41. Ahlgren K.M., Moretti S., Lundgren B.A., Karlsson I., Ahlin E., Norling A., Hallgren A., Perheentupa J., Gustafsson J., Rorsman F., et al. Increased IL-17A secretion in response to Candida albicans in autoimmune polyendocrine syndrome type 1 and its animal model. Eur J Immunol 2011, 41:235-245.
42. Puel A., Doffinger R., Natividad A., Chrabieh M., Barcenas-Morales G., Picard C., Cobat A., Ouachee-Chardin M., Toulon A., Bustamante J., et al. Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. J Exp Med 2010, 207:291-297.
43. Kisand K., Boe Wolff A.S., Podkrajsek K.T., Tserel L., Link M., Kisand K.V., Ersvaer E., Perheentupa J., Erichsen M.M., Bratanic N., et al. Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines. J Exp Med 2010, 207:299-308.
44. Kekalainen E., Miettinen A., Arstila T.P. Does the deficiency of Aire in mice really resemble human APECED?. Nat Rev Immunol 2007, 7:1.
45. Kisand K., Lilic D., Casanova J.L., Peterson P., Meager A., Willcox N. Mucocutaneous candidiasis and autoimmunity against cytokines in APECED and thymoma patients: clinical and pathogenetic implications. Eur J Immunol 2011, 41:1517-1527.
46. Nehme N.T., Pachlopnik Schmid J., Debeurme F., Andre-Schmutz I., Lim A., Nitschke P., Rieux-Laucat F., Lutz P., Picard C., Mahlaoui N., et al. MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T cells survival. Blood 2012, 119:3458-3468.
47. Abdollahpour H., Appaswamy G., Kotlarz D., Diestelhorst J., Beier R., Schaffer A.A., Gertz E.M., Schambach A., Kreipe H.H., Pfeifer D., et al. The phenotype of human STK4 deficiency. Blood 2012, 119:3450-3457.
48. Zonios D.I., Falloon J., Huang C.Y., Chaitt D., Bennett J.E. Cryptococcosis and idiopathic CD4 lymphocytopenia. Medicine (Baltimore) 2007, 86:78-92.
49. Luo L., Li T. Idiopathic CD4 lymphocytopenia and opportunistic infection - an update. FEMS Immunol Med Microbiol 2008, 54:283-289.
50. Li F.Y., Chaigne-Delalande B., Kanellopoulou C., Davis J.C., Matthews H.F., Douek D.C., Cohen J.I., Uzel G., Su H.C., Lenardo M.J. Second messenger role for Mg2+ revealed by human T-cell immunodeficiency. Nature 2011, 475:471-476.
51. Kuijpers T.W., Ijspeert H., van Leeuwen E.M., Jansen M.H., Hazenberg M.D., Weijer K.C., van Lier R.A., van der Burg M. Idiopathic CD4+ T lymphopenia without autoimmunity or granulomatous disease in the slipstream of RAG mutations. Blood 2011, 117:5892-5896.
52. Blumental S., Mouy R., Mahlaoui N., Bougnoux M.E., Debre M., Beaute J., Lortholary O., Blanche S., Fischer A. Invasive mold infections in chronic granulomatous disease: a 25-year retrospective survey. Clin Infect Dis 2011, 53:e159-e169.
53. Bustamante J., Arias A.A., Vogt G., Picard C., Galicia L.B., Prando C., Grant A.V., Marchal C.C., Hubeau M., Chapgier A., et al. Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease. Nat Immunol 2011, 12:213-221.
54. Vinh D.C., Freeman A.F., Shea Y.R., Malech H.L., Abinun M., Weinberg G.A., Holland S.M. Mucormycosis in chronic granulomatous disease: association with iatrogenic immunosuppression. J Allergy Clin Immunol 2009, 123:1411-1413.
55. Engelhardt K.R., Grimbacher B. Mendelian traits causing susceptibility to mucocutaneous fungal infections in human subjects. J Allergy Clin Immunol 2012, 129:294-305. quiz 306-297.