Molecular mechanisms of the immunological abnormalities in hyper-IgE syndrome

Annals of the New York Academy of Sciences

Volumn 1246, Issue 1, 2011, Pages 34-40

  Minegishi, Yoshiyuki ^a   Saito, Masako ^a  

^a TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

Author keywords

Atopic dermatitis; ITreg cell; Staphylococcal infection; STAT3; Th17 cell

Indexed keywords

ALPHA INTERFERON; BETA INTERFERON; COLONY STIMULATING FACTOR 1; EPIDERMAL GROWTH FACTOR; GAMMA INTERFERON; IMMUNOGLOBULIN E; INTERLEUKIN 10; INTERLEUKIN 11; INTERLEUKIN 12; INTERLEUKIN 15; INTERLEUKIN 17; INTERLEUKIN 19; INTERLEUKIN 2; INTERLEUKIN 20; INTERLEUKIN 21; INTERLEUKIN 22; INTERLEUKIN 23; INTERLEUKIN 24; INTERLEUKIN 26; INTERLEUKIN 27; INTERLEUKIN 28; INTERLEUKIN 29; INTERLEUKIN 31; INTERLEUKIN 4; INTERLEUKIN 6; INTERLEUKIN 7; INTERLEUKIN 9; PLATELET DERIVED GROWTH FACTOR; STAT3 PROTEIN; UNINDEXED DRUG;

ARTICLE; ATOPIC DERMATITIS; DENDRITIC CELL; GENE; GENE MUTATION; HUMAN; HYPER IGE SYNDROME; IMMUNE DEFICIENCY; IMMUNOGLOBULIN BLOOD LEVEL; INFECTION SENSITIVITY; NONHUMAN; PNEUMONIA; REGULATORY T LYMPHOCYTE; SIGNAL TRANSDUCTION; SKIN ABSCESS; STAPHYLOCOCCUS INFECTION; STAT3 GENE; TH17 CELL;

EID: 84855316389     PISSN: 00778923     EISSN: 17496632     Source Type: Book Series    
DOI: 10.1111/j.1749-6632.2011.06280.x     Document Type: Article

References (60)

1. Grimbacher, B., S.M. Holland & J.M. Puck. 2005. Hyper-IgE syndromes. Immunol. Rev. 203: 244-250.
2. Minegishi, Y. 2009. Hyper-IgE syndrome. Curr. Opin. Immunol. 21: 487-492.
3. Grimbacher, B., S.M. Holland, J.I. Gallin, et al. 1999. Hyper-IgE syndrome with recurrent infections-an autosomal dominant multisystem disorder. N. Engl. J. Med. 340: 692-702.
4. Holland, S.M., F.R. DeLeo, H.Z. Elloumi, et al. 2007. STAT3 mutations in the hyper-IgE syndrome. N. Engl. J. Med. 357: 1608-1619.
5. Minegishi, Y., M. Saito, S. Tsuchiya, et al. 2007. Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. Nature 448: 1058-1062.
6. Levy, D.E. & C.K. Lee. 2002. What does STAT3 do? J. Clin. Invest. 109: 1143-1148.
7. Takeda, K., K. Noguchi, W. Shi, et al. 1997. Targeted disruption of the mouse STAT3 gene leads to early embryonic lethality. Proc. Natl. Acad. Sci. USA 94: 3801-3804.
8. Akira, S. 2000. Roles of STAT3 defined by tissue-specific gene targeting. Oncogene 19: 2607-2611.
9. Bettelli, E., T. Korn & V.K. Kuchroo. 2007. Th17: the third member of the effector T cell trilogy. Curr. Opin. Immunol. 19: 652-657.
10. Korn, T., M. Oukka, V. Kuchroo & E. Bettelli. 2007. Th17 cells: effector T cells with inflammatory properties. Semin. Immunol. 19: 362-371.
11. Diveu, C., M.J. McGeachy & D.J. Cua. 2008. Cytokines that regulate autoimmunity. Curr. Opin. Immunol. 20: 663-668.
12. Dong, C. 2008. TH17 cells in development: an updated view of their molecular identity and genetic programming. Nat. Rev. Immunol. 8: 337-348.
13. Ouyang, W., J.K. Kolls & Y. Zheng. 2008. The biological functions of T helper 17 cell effector cytokines in inflammation. Immunity 28: 454-467.
14. Aujla, S.J., P.J. Dubin & J.K. Kolls. 2007. Th17 cells and mucosal host defense. Semin. Immunol. 19: 377-382.
15. Iwakura, Y., S. Nakae, S. Saijo & H. Ishigame. 2008. The roles of IL-17A in inflammatory immune responses and host defense against pathogens. Immunol. Rev. 226: 57-79.
16. Winkelstein, J.A., M.C. Marino, R.B. Johnston, Jr., et al. 2000. Chronic granulomatous disease. Report on a national registry of 368 patients. Medicine 79: 155-169.
17. de Beaucoudrey, L., A. Puel, O. Filipe-Santos, et al. 2008. Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. J. Exp. Med. 205: 1543-1550.
18. Ma, C.S., G.Y. Chew, N. Simpson, et al. 2008. Deficiency of Th17 cells in hyper IgE syndrome due to mutations in STAT3. J. Exp. Med. 205: 1551-1557.
19. Milner, J.D., J.M. Brenchley, A. Laurence, et al. 2008. Impaired T(H)17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome. Nature 452: 773-776.
20. Renner, E.D., S. Rylaarsdam, S. Anover-Sombke, et al. 2008. Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome. J. Allergy Clin. Immunol. 122: 181-187.
21. Minegishi, Y., M. Saito, M. Nagasawa, et al. 2009. Molecular explanation for the contradiction between systemic Th17 defect and localized bacterial infection in hyper-IgE syndrome. J. Exp. Med. 206: 1291-1301.
22. Akdis, C.A. & M. Akdis. 2009. Mechanisms and treatment of allergic disease in the big picture of regulatory T cells. J. Allergy Clin. Immunol. 123: 735-746.
23. Umetsu, D.T. & R.H. DeKruyff. 2006. The regulation of allergy and asthma. Immunol. Rev. 212: 238-255.
24. Lloyd, C.M. & C.M. Hawrylowicz. 2009. Regulatory T cells in asthma. Immunity 31: 438-49.
25. Hammad, H. & B.N. Lambrecht. 2008. Dendritic cells and epithelial cells: linking innate and adaptive immunity in asthma. Nat. Rev. Immunol. 8: 193-204.
26. Dillon, S.R., C. Sprecher, A. Hammond, et al. 2004. Interleukin 31, a cytokine produced by activated T cells, induces dermatitis in mice. Nat. Immunol. 5: 752-760.
27. Kakkar, R. & R.T. Lee. 2008. The IL-33/ST2 pathway: therapeutic target and novel biomarker. Nat. Rev. Drug Discov. 7: 827-840.
28. Wang, Y.H., P. Angkasekwinai, N. Lu, et al. 2007. IL-25 augments type 2 immune responses by enhancing the expansion and functions of TSLP-DC-activated Th2 memory cells. J. Exp. Med. 204: 1837-1847.
29. Trautmann, A., M. Akdis, D. Kleemann, et al. 2000. T cell-mediated Fas-induced keratinocyte apoptosis plays a key pathogenetic role in eczematous dermatitis. J. Clin. Invest. 106: 25-35.
30. Wildin, R.S., F. Ramsdell, J. Peake, et al. 2001. X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy. Nat. Genet. 27: 18-20.
31. Bennett, C.L., J. Christie, F. Ramsdell, et al. 2001. The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. Nat. Genet. 27: 20-21.
32. + regulatory T cells. Nat. Immunol. 4: 330-336.
33. Lin, W., N. Truong, W.J. Grossman, et al. 2005. Allergic dysregulation and hyperimmunoglobulinemia E in Foxp3 mutant mice. J. Allergy Clin. Immunol. 116: 1106-1115.
34. + regulatory T cells by TGF-beta induction of transcription factor Foxp3. J. Exp. Med. 198: 1875-1886.
35. + regulatory T cells via a TGF-beta and retinoic acid-dependent mechanism. J. Exp. Med. 204: 1757-1764.
36. + regulatory T cells and for expansion of these cells. J. Immunol. 178: 2018-2027.
37. Rubtsov, Y.P. & A.Y. Rudensky. 2007. TGFbeta signalling in control of T-cell-mediated self-reactivity. Nat. Rev. Immunol. 7: 443-453.
38. Steinman, R.M., D. Hawiger & M.C. Nussenzweig. 2003. Tolerogenic dendritic cells. Annu. Rev. Immunol. 21: 685-711.
39. Rutella, S., S. Danese & G. Leone. 2006. Tolerogenic dendritic cells: cytokine modulation comes of age. Blood 108: 1435-1440.
40. Saito, M., M. Nagasawa, H. Takada, et al. 2011. Defective IL-10 signaling in hyper-IgE syndrome results in impaired generation of tolerogenic dendritic cells and induced regulatory T cells. J. Exp. Med. 208: 235-249.
41. Minegishi, Y., M. Saito, T. Morio, et al. 2006 Human TYK2 deficiency reveals requisite roles of TYK2 in multiple cytokine signals involved in innate and acquired immunity. Immunity 25: 745-755.
42. Enk, A.H. & S.I. Katz. 1992. Early molecular events in the induction phase of contact sensitivity. Proc. Natl. Acad. Sci. USA 89: 1398-1402.
43. Enk, A.H., V.L. Angeloni, M.C. Udey & S.I. Katz. 1993. Inhibition of Langerhans cell antigen-presenting function by IL-10. A role for IL-10 in induction of tolerance. J. Immunol. 151: 2390-2398.
44. Akdis, M., J. Verhagen, A. Taylor, et al. 2004. Immune responses in healthy and allergic individuals are characterized by a fine balance between allergen-specific T regulatory 1 and T helper 2 cells. J. Exp. Med. 199: 1567-1575.
45. Borish, L., A. Aarons, J. Rumbyrt, et al. 1996. Interleukin-10 regulation in normal subjects and patients with asthma. J. Allergy Clin. Immunol. 97: 1288-1296.
46. Lim, S., E. Crawley, P. Woo & P.J. Barnes. 1998. Haplotype associated with low interleukin-10 production in patients with severe asthma. Lancet 352: 113.
47. + T cells by grass pollen immunotherapy. J. Allergy Clin. Immunol. 111: 1255-1261.
48. Vissers, J.L., B.C. van Esch, G.A. Hofman, et al. 2004. Allergen immunotherapy induces a suppressive memory response mediated by IL-10 in a mouse asthma model. J. Allergy Clin. Immunol. 113: 1204-1210.
49. Kuhn, R., J. Lohler, D. Rennick, et al. 1993. Interleukin-10-deficient mice develop chronic enterocolitis. Cell 75: 263-274.
50. + T cells, but not B cells, mediate colitis in interleukin 10-deficient mice. J. Exp. Med. 184: 241-251.
51. Spencer, S.D., F. Di Marco, J. Hooley, et al. 1998. The orphan receptor CRF2-4 is an essential subunit of the interleukin 10 receptor. J. Exp. Med. 187: 571-578.
52. Rubtsov, Y.P., J.P. Rasmussen, E.Y. Chi, et al. 2008. Regulatory T cell-derived interleukin-10 limits inflammation at environmental interfaces. Immunity 28: 546-558.
53. Glocker, E.O., A. Hennigs, M. Nabavi, et al. 2009. A homozygous CARD9 mutation in a family with susceptibility to fungal infections. N. Engl. J. Med. 361: 1727-1735.
54. Brand, S. 2009. Crohn's disease: Th1, Th17 or both? The change of a paradigm: new immunological and genetic insights implicate Th17 cells in the pathogenesis of Crohn's disease. Gut 58: 1152-1167.
55. (+) anergic T cells induced by interleukin-10-treated human dendritic cells display antigen-specific suppressor activity. Blood 99: 2468-2476.
56. Hawrylowicz, C.M. & A. O'Garra. 2005. Potential role of interleukin-10-secreting regulatory T cells in allergy and asthma. Nat. Rev. Immunol. 5: 271-283.
57. + regulatory T-cell suppression of allergen-driven T-cell activation to atopic status and expression of allergic disease. Lancet 363: 608-615.
58. Ou, L.S., E. Goleva, C. Hall & D.Y. Leung. 2004. T regulatory cells in atopic dermatitis and subversion of their activity by superantigens. J. Allergy Clin. Immunol. 113: 756-763.
59. + regulatory T cell-dependent and - independent control of allergic inflammation. Immunity 29: 114-126.
60. Freeman, A.F., D.E. Kleiner, H. Nadiminti, et al. 2007. Causes of death in hyper-IgE syndrome. J. Allergy Clin. Immunol. 119: 1234-1240.