Cutaneous manifestations of hyper IgE syndrome

Allergology International

Volumn 61, Issue 2, 2012, Pages 191-196

  Minegishi, Yoshiyuki ^a   Saito, Masako ^a  

^a TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

Author keywords

Atopic dermatitis; Cold abscess; Newborn rash; Staphylococcus aureus; STAT3

Indexed keywords

IMMUNOGLOBULIN E; INTERLEUKIN 10; INTERLEUKIN 6; STAT3 PROTEIN;

ABSCESS; ARTICLE; ATOPIC DERMATITIS; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; BACTERIAL INFECTION; CELL MATURATION; CLINICAL FEATURE; DENDRITIC CELL; DISEASE SEVERITY; ECZEMA; GENE MUTATION; HAEMOPHILUS INFLUENZAE; HUMAN; HYPER IGE SYNDROME; IMMUNOGLOBULIN BLOOD LEVEL; INFLAMMATION; MUCOCUTANEOUS CANDIDIASIS; MYCOSIS; PRIORITY JOURNAL; RASH; RECURRENT INFECTION; REGULATORY T LYMPHOCYTE; SIGNAL TRANSDUCTION; SKIN DEFECT; SKIN INFECTION; SKIN MANIFESTATION; STAPHYLOCOCCUS INFECTION; STREPTOCOCCUS PNEUMONIAE; T LYMPHOCYTE; TH17 CELL;

EID: 84862643142     PISSN: 13238930     EISSN: 14401592     Source Type: Journal    
DOI: 10.2332/allergolint.12-RAI-0423     Document Type: Review

References (52)

1. Minegishi Y. Hyper-IgE syndrome. Curr Opin Immunol 2009;21:487-92.
2. Minegishi Y, Karasuyama H. Defects in Jak-STATmediated cytokine signals cause hyper-IgE syndrome: lessons from a primary immunodeficiency. Int Immunol 2009;21:105-12.
3. Davis SD, Schaller J, Wedgwood RJ. Job's Syndrome. Recurrent, "cold", staphylococcal abscesses. Lancet 1966;1: 1013-5.
4. Buckley RH, Wray BB, Belmaker EZ. Extreme hyperimmunoglobulinemia E and undue susceptibility to infection. Pediatrics 1972;49:59-70.
5. Grimbacher B, Holland SM, Gallin JI et al. Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder. N Engl J Med 1999;340:692-702.
6. Minegishi Y, Saito M, Morio T et al. Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. Immunity 2006;25:745-55.
7. Minegishi Y, Karasuyama H. Hyperimmunoglobulin E syndrome and tyrosine kinase 2 deficiency. Curr Opin Allergy Clin Immunol 2007;7:506-9.
8. Holland SM, DeLeo FR, Elloumi HZ et al. STAT3 mutations in the hyper-IgE syndrome. N Engl J Med 2007;357: 1608-19.
9. Minegishi Y, Saito M, Tsuchiya S et al. Dominantnegative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. Nature 2007;448:1048-52.
10. Renner ED, Rylaarsdam S, Anover-Sombke S et al. 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 2008;122:181-7.
11. Grimbacher B, Holland SM, Puck JM. Hyper-IgE syndromes. Immunol Rev 2005;203:244-50.
12. Minegishi Y, Karasuyama H. Genetic origins of hyper-IgE syndrome. Curr Allergy Asthma Rep 2008;8:386-91.
13. Eberting CL, Davis J, Puck JM, Holland SM, Turner ML. Dermatitis and the newborn rash of hyper-IgE syndrome. Arch Dermatol 2004;140:1119-25.
14. Renner ED, Pawlita I, Hoffmann F et al. No Indication for a Defect in Toll-Like Receptor Signaling in Patients with Hyper-IgE Syndrome. J Clin Immunol 2005;25:321-8.
15. Siegel AM, Heimall J, Freeman AF et al. A Critical Role for STAT3 Transcription Factor Signaling in the Development and Maintenance of Human T Cell Memory. Immunity 2011;35:806-18.
16. Grimbacher B, Schaffer AA, Holland SM et al. Genetic linkage of hyper-IgE syndrome to chromosome 4. Am J Hum Genet 1999;65:735-44.
17. Chamlin SL, McCalmont TH, Cunningham BB et al. Cutaneous manifestations of hyper-IgE syndrome in infants and children. J Pediatr 2002;141:572-5.
18. Taieb A, Bassan-Andrieu L, Maleville J. Eosinophilic pustulosis of the scalp in childhood. J Am Acad Dermatol 1992;27:55-60.
19. Lucky AW, Esterly NB, Heskel N, Krafchik BR, Solomon LM. Eosinophilic pustular folliculitis in infancy. Pediatr Dermatol 1984;1:202-6.
20. Schwartz RA, Janniger CK. Erythema toxicum neonatorum. Cutis 1996;58:153-5.
21. Niamba P, Weill FX, Sarlangue J, Labreze C, Couprie B, Taieh A. Is common neonatal cephalic pustulosis (neonatal acne) triggered by Malassezia sympodialis? Arch Dermatol 1998;134:995-8.
22. Boguniewicz M, Leung DY. Atopic dermatitis: a disease of altered skin barrier and immune dysregulation. Immunol Rev 2011;242:233-46.
23. Novak N, Leung DY. Advances in atopic dermatitis. Curr Opin Immunol 2011;23:778-83.
24. Hudson TJ. Skin barrier function and allergic risk. Nat Genet 2006;38:399-400.
25. Palmer CN, Irvine AD, Terron-Kwiatkowski A et al. Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Nat Genet 2006;38:441-6.
26. Erlewyn-Lajeunesse MD. Hyperimmunoglobulin-E syndrome with recurrent infection: a review of current opinion and treatment. Pediatr Allergy Immunol 2000;11:133-41.
27. Leung DY, Geha RS. Clinical and immunologic aspects of the hyperimmunoglobulin E syndrome. Hematol Oncol Clin North Am 1988;2:81-100.
28. Akira S, Nishio Y, Inoue M et al. Molecular cloning of APRF, a novel IFN-stimulated gene factor 3 p91-related transcription factor involved in the gp130-mediated signaling pathway. Cell 1994;77:63-71.
29. Olaiwan A, Chandesris MO, Fraitag S et al. Cutaneous findings in sporadic and familial autosomal dominant hyper-IgE syndrome: a retrospective, single-center study of 21 patients diagnosed using molecular analysis. J Am Acad Dermatol 2011;65:1167-72.
30. de Beaucoudrey L, Puel A, Filipe-Santos O et al. Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. J ExpMed 2008;205:1543-50.
31. Ma CS, Chew GY, Simpson N et al. Deficiency of Th17 cells in hyper IgE syndrome due to mutations in STAT3. J Exp Med 2008;205:1551-7.
32. Milner JD, Brenchley JM, Laurence A et al. Impaired T (H)17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome. Nature 2008;452:773-6.
33. Minegishi Y, Saito M, Nagasawa M et al. Molecular explanation for the contradiction between systemic Th17 defect and localized bacterial infection in hyper-IgE syndrome. J ExpMed 2009;206:1291-301.
34. Puel A, Doffinger R, Natividad A et al. Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. J ExpMed 2010;207:291-7.
35. Puel A, Cypowyj S, Bustamante J et al. Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity. Science 2011;332:65-8.
36. van de Veerdonk FL, Plantinga TS, Hoischen A et al. STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. N Engl J Med 2011;365:54-61.
37. Liu L, Okada S, Kong XF et al. Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. J ExpMed 2011;208: 1635-48.
38. Bettelli E, Korn T, Kuchroo VK. Th17: the third member of the effector T cell trilogy. Curr Opin Immunol 2007;19: 652-7.
39. Korn T, Oukka M, Kuchroo V, Bettelli E. Th17 cells: effector T cells with inflammatory properties. Semin Immunol 2007;19:362-71.
40. Diveu C, McGeachy MJ, Cua DJ. Cytokines that regulate autoimmunity. Curr Opin Immunol 2008;20:663-8.
41. Dong C. TH17 cells in development: an updated view of their molecular identity and genetic programming. Nat Rev Immunol 2008;8:337-48.
42. Ouyang W, Kolls JK, Zheng Y. The biological functions of T helper 17 cell effector cytokines in inflammation. Immunity 2008;28:454-67.
43. Aujla SJ, Dubin PJ, Kolls JK. Th17 cells and mucosal host defense. Semin Immunol 2007;19:377-82.
44. Iwakura Y, Nakae S, Saijo S, Ishigame H. The roles of IL-17A in inflammatory immune responses and host defense against pathogens. Immunol Rev 2008;226:57-79.
45. Hammad H, Lambrecht BN. Dendritic cells and epithelial cells: linking innate and adaptive immunity in asthma. Nat Rev Immunol 2008;8:193-204.
46. Dillon SR, Sprecher C, Hammond A et al. Interleukin 31, a cytokine produced by activated T cells, induces dermatitis in mice. Nat Immunol 2004;5:752-60.
47. Wang YH, Angkasekwinai P, Lu N et al. IL-25 augments type 2 immune responses by enhancing the expansion and functions of TSLP-DC-activated Th2 memory cells. J Exp Med 2007;204:1837-47.
48. Kakkar R, Lee RT. The IL-33_ST2 pathway: therapeutic target and novel biomarker. Nat Rev Drug Discov 2008;7: 827-40.
49. Trautmann A, Akdis M, Kleemann D et al. T cell-mediated Fas-induced keratinocyte apoptosis plays a key pathogenetic role in eczematous dermatitis. J Clin Invest 2000; 106:25-35.
50. Saito M, Nagasawa M, Takada H et al. Defective IL-10 signaling in hyper-IgE syndrome results in impaired generation of tolerogenic dendritic cells and induced regulatory T cells. J ExpMed 2011;208:235-49.
51. Hawrylowicz CM, O'Garra A. Potential role of interleukin-10-secreting regulatory T cells in allergy and asthma. Nat Rev Immunol 2005;5:271-83.
52. Ling EM, Smith T, Nguyen XD et al. Relation of CD4+ CD25+ regulatory T-cell suppression of allergen-driven Tcell activation to atopic status and expression of allergic disease. Lancet 2004;363:608-15.