Role of MHC Class II Genes in the pathogenesis of pemphigoid

Autoimmunity Reviews

Volumn 11, Issue 1, 2011, Pages 40-47

  Zakka, L R ^a   Reche, P ^b   Ahmed, A R ^a  

^a Center for Blistering Diseases   (United States)

^b UNIVERSIDAD COMPLUTENSE DE MADRID   (Spain)

Author keywords

Anti BMZ autoantibodies; Bullous Pemphigoid; MHC HLA Class II Genes; Mucous membrane pemphigoid; Pemphigoid antigens

Indexed keywords

ALPHA6 INTEGRIN; ANTIBODY; ANTIGEN; AUTOANTIGEN; BASEMENT MEMBRANE ZONE ANTIBODY; BETA4 INTEGRIN; BULLOUS PEMPHIGOID ANTIGEN 1; BULLOUS PEMPHIGOID ANTIGEN 2; HLA DQB1 ANTIGEN; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 2; T LYMPHOCYTE RECEPTOR; UNCLASSIFIED DRUG;

ANTIBODY PRODUCTION; ANTIGEN BINDING; ANTIGEN PRESENTING CELL; BINDING SITE; BULLOUS PEMPHIGOID; CONTROLLED STUDY; EYE DISEASE; GENETIC SUSCEPTIBILITY; HUMAN; HUMAN TISSUE; IMMUNOPATHOGENESIS; MAJOR CLINICAL STUDY; MODEL; MOUTH DISEASE; MUCOUS MEMBRANE PEMPHIGOID; NUCLEOTIDE SEQUENCE; OCULAR CICATRICIAL PEMPHIGOID; ORAL PEMPHIGOID; PEMPHIGOID; PROGNOSIS; REVIEW; SEROLOGY;

AMINO ACID SEQUENCE; AUTOANTIBODIES; AUTOANTIGENS; BINDING SITES; CARRIER PROTEINS; CYTOSKELETAL PROTEINS; ENZYME-LINKED IMMUNOSORBENT ASSAY; GENES, MHC CLASS II; HLA-DQ ANTIGENS; HUMANS; MOLECULAR SEQUENCE DATA; NERVE TISSUE PROTEINS; NON-FIBRILLAR COLLAGENS; PEMPHIGOID, BENIGN MUCOUS MEMBRANE; PEMPHIGOID, BULLOUS;

EID: 80855123878     PISSN: 15689972     EISSN: 18730183     Source Type: Journal    
DOI: 10.1016/j.autrev.2011.07.002     Document Type: Review

References (57)

1. Sagi L., Baum S., Agmon-Levin N., Sherer Y., Katz B.S., Barzilai O., et al. Autoimmune bullous diseases The spectrum of infectious agent antibodies and review of the literature. Autoimmun Rev 2011, 10(9):527-535.
2. Sami N., Ahmed A.R. Dual diagnosis of Pemphigus and pemphigoid. Retrospective review of thirty cases in the literature. Dermatology 2001, 202:293-301.
3. Nousari H.C., Anhalt G.J. Pemphigus and bullous pemphigoid. Lancet 1999, 354:667-672.
4. Sami N., Yeh S.W., Ahmed A.R. Blistering diseases in the elderly: diagnosis and treatment. Dermatol Clin 2004, 22:73-86.
5. Walsh S.R., Hogg D., Mydlarski P.R. Bullous pemphigoid: from bench to bedside. Drugs 2005, 65:905-926.
6. Fleming T.E., Korman N.J. Cicatricial pemphigoid. J Am Acad Dermatol 2000, 43:571-591. quiz 91-4.
7. Lever W.F. Pemphigus and pemphigoid. A review of the advances made since 1964. J Am Acad Dermatol 1979, 1:2-31.
8. Sami N., Bhol K.C., Beutner E.H., Plunkett R.W., Leiferman K.M., Foster C.S., et al. Simultaneous presence of mucous membrane pemphigoid and pemphigus vulgaris: molecular characterization of both autoantibodies. Clin Immunol 2001, 100:219-227.
9. Scully C. A review of common mucocutaneous disorders affecting the mouth and lips. Ann Acad Med Singapore 1999, 28:704-707.
10. McCuin J.B., Hanlon T., Mutasim D.F. Autoimmune bullous diseases: diagnosis and management. Dermatol Nurs 2006, 18:20-25.
11. Scott J.E., Ahmed A.R. The blistering diseases. Med Clin North Am 1998, 82:1239-1283.
12. Sami N., Letko E., Androudi S., Daoud Y., Foster C.S., Ahmed A.R. Intravenous immunoglobulin therapy in patients with ocular-cicatricial pemphigoid: a long-term follow-up. Ophthalmology 2004, 111:1380-1382.
13. Bhol K.C., Goss L., Kumari S., Colon J.E., Ahmed A.R. Autoantibodies to human alpha6 integrin in patients with oral pemphigoid. J Dent Res 2001, 80:1711-1715.
14. Wojnarowska F., Venning V.A., Burge S.M. Immunobullous Diseases. Rook's Textbook of Dermatology (Seventh Edition) 2008, 60. Blackwell Science Ltd., Malden, MA. T. Burns, S. Breathnach, N. Cox, C. Griffiths (Eds.).
15. Schmidt E., Zillikens D. Modern diagnosis of autoimmune blistering skin diseases. Autoimmun Rev 2010, 10:84-89.
16. Tyagi S., Bhol K., Natarajan K., Livir-Rallatos C., Foster C.S., Ahmed A.R. Ocular cicatricial pemphigoid antigen: partial sequence and biochemical characterization. Proc Natl Acad Sci U S A 1996, 93:14714-14719.
17. Bhol K.C., Dans M.J., Simmons R.K., Foster C.S., Giancotti F.G., Ahmed A.R. The autoantibodies to alpha 6 beta 4 integrin of patients affected by ocular cicatricial pemphigoid recognize predominantly epitopes within the large cytoplasmic domain of human beta 4. J Immunol 2000, 165:2824-2829.
18. Kumari S., Bhol K.C., Simmons R.K., Razzaque M.S., Letko E., Foster C.S., et al. Identification of ocular cicatricial pemphigoid antibody binding site(s) in human beta4 integrin. Invest Ophthalmol Vis Sci 2001, 42:379-385.
19. Yeh S.W., Usman A.Q., Ahmed A.R. Profile of autoantibody to basement membrane zone proteins in patients with mucous membrane pemphigoid: long-term follow up and influence of therapy. Clin Immunol 2004, 112:268-272.
20. Thoma-Uszynski S., Uter W., Schwietzke S., Schuler G., Borradori L., Hertl M. Autoreactive T and B cells from bullous pemphigoid (BP) patients recognize epitopes clustered in distinct regions of BP180 and BP230. J Immunol 2006, 176:2015-2023.
21. Budinger L., Borradori L., Yee C., Eming R., Ferencik S., Grosse-Wilde H., et al. Identification and characterization of autoreactive T cell responses to bullous pemphigoid antigen 2 in patients and healthy controls. J Clin Invest 1998, 102:2082-2089.
22. Hacker-Foegen M.K., Zillikens D., Giudice G.J., Lin M.S. T cell receptor gene usage of BP180-specific T lymphocytes from patients with bullous pemphigoid and pemphigoid gestationis. Clin Immunol 2004, 113:179-186.
23. Di Zenzo G., Grosso F., Terracina M., Mariotti F., De Pita O., Owaribe K., et al. Characterization of the anti-BP180 autoantibody reactivity profile and epitope mapping in bullous pemphigoid patients. J Invest Dermatol 2004, 122:103-110.
24. Leyendeckers H., Tasanen K., Bruckner-Tuderman L., Zillikens D., Sitaru C., Schmitz J., et al. Memory B cells specific for the NC16A domain of the 180kDa bullous pemphigoid autoantigen can be detected in peripheral blood of bullous pemphigoid patients and induced in vitro to synthesize autoantibodies. J Invest Dermatol 2003, 120:372-378.
25. Ishiura N., Fujimoto M., Watanabe R., Nakashima H., Kuwano Y., Yazawa N., et al. Serum levels of IgE anti-BP180 and anti-BP230 autoantibodies in patients with bullous pemphigoid. J Dermatol Sci 2008, 49:153-161.
26. Lin M.S., Fu C.L., Giudice G.J., Olague-Marchan M., Lazaro A.M., Stastny P., et al. Epitopes targeted by bullous pemphigoid T lymphocytes and autoantibodies map to the same sites on the bullous pemphigoid 180 ectodomain. J Invest Dermatol 2000, 115:955-961.
27. Fairley J.A., Fu C.L., Giudice G.J. Mapping the binding sites of anti-BP180 immunoglobulin E autoantibodies in bullous pemphigoid. J Invest Dermatol 2005, 125:467-472.
28. Sami N., Bhol K.C., Ahmed A.R. Treatment of oral pemphigoid with intravenous immunoglobulin as monotherapy. Long-term follow-up: influence of treatment on antibody titres to human alpha6 integrin. Clin Exp Immunol 2002, 129:533-540.
29. Rashid K.A., Stern J.N., Ahmed A.R. Identification of an epitope within human integrin alpha 6 subunit for the binding of autoantibody and its role in basement membrane separation in oral pemphigoid. J Immunol 2006, 176:1968-1977.
30. Letko E., Bhol K., Foster S.C., Ahmed R.A. Influence of intravenous immunoglobulin therapy on serum levels of anti-beta 4 antibodies in ocular cicatricial pemphigoid. A correlation with disease activity. A preliminary study. Curr Eye Res 2000, 21:646-654.
31. Delgado J.C., Turbay D., Yunis E.J., Yunis J.J., Morton E.D., Bhol K., et al. A common major histocompatibility complex class II allele HLA-DQB1* 0301 is present in clinical variants of pemphigoid. Proc Natl Acad Sci U S A 1996, 93:8569-8571.
32. Setterfield J., Theron J., Vaughan R.W., Welsh K.I., Mallon E., Wojnarowska F., et al. Mucous membrane pemphigoid: HLA-DQB1*0301 is associated with all clinical sites of involvement and may be linked to antibasement membrane IgG production. Br J Dermatol 2001, 145:406-414.
33. Chan L.S., Hammerberg C., Cooper K.D. Significantly increased occurrence of HLA-DQB1*0301 allele in patients with ocular cicatricial pemphigoid. J Invest Dermatol 1997, 108:129-132.
34. Yunis J.J., Mobini N., Yunis E.J., Alper C.A., Deulofeut R., Rodriguez A., et al. Common major histocompatibility complex class II markers in clinical variants of cicatricial pemphigoid. Proc Natl Acad Sci U S A 1994, 91:7747-7751.
35. Zaltas M.M., Ahmed R., Foster C.S. Association of HLA-DR4 with ocular cicatricial pemphigoid. Curr Eye Res 1989, 8:189-193.
36. Ahmed A.R., Foster S., Zaltas M., Notani G., Awdeh Z., Alper C.A., et al. Association of DQw7 (DQB1*0301) with ocular cicatricial pemphigoid. Proc Natl Acad Sci U S A 1991, 88:11579-11582.
37. Barnadas M.A., Rubiales M.V., Gonzalez M.J., Puig L., Garcia P., Baselga E., et al. Enzyme-linked immunosorbent assay (ELISA) and indirect immunofluorescence testing in a bullous pemphigoid and pemphigoid gestationis. Int J Dermatol 2008, 47:1245-1249.
38. Kobayashi M., Amagai M., Kuroda-Kinoshita K., Hashimoto T., Shirakata Y., Hashimoto K., et al. BP180 ELISA using bacterial recombinant NC16a protein as a diagnostic and monitoring tool for bullous pemphigoid. J Dermatol Sci 2002, 30:224-232.
39. Bunce M., Welsh K. PCR-SSP typing of HLA class I and class II alleles. ASHI Laboratory Manual 2000, 19. ASHI Publications, Mt. Laurel, NJ. A.B. Hahn, G.A. Land, R.M. Strothman (Eds.).
40. Lafuente E.M., Reche P.A. Prediction of MHC-peptide binding: a systematic and comprehensive overview. Curr Pharm Des 2009, 15:3209-3220.
41. Reche P.A., Glutting J.P., Reinherz E.L. Prediction of MHC class I binding peptides using profile motifs. Hum Immunol 2002, 63:701-709.
42. Reche P.A., Glutting J.P., Zhang H., Reinherz E.L. Enhancement to the RANKPEP resource for the prediction of peptide binding to MHC molecules using profiles. Immunogenetics 2004, 56:405-419.
43. Reche P.A., Keskin D.B., Hussey R.E., Ancuta P., Gabuzda D., Reinherz E.L. Elicitation from virus-naive individuals of cytotoxic T lymphocytes directed against conserved HIV-1 epitopes. Med Immunol 2006, 5:1.
44. Foster C.S., Ahmed A.R. Intravenous immunoglobulin therapy for ocular cicatricial pemphigoid: a preliminary study. Ophthalmology 1999, 106:2136-2143.
45. Liao W.W., Arthur J.W. Predicting peptide binding to Major Histocompatibility Complex molecules. Autoimmun Rev. 2011, 10:469-473.
46. Banfield C.C., Wojnarowska F., Allen J., George S., Venning V.A., Welsh K.I. The association of HLA-DQ7 with bullous pemphigoid is restricted to men. Br J Dermatol 1998, 138:1085-1090.
47. Gao X.H., Winsey S., Li G., Barnardo M., Zhu X.J., Chen H.D., et al. HLA-DR and DQ polymorphisms in bullous pemphigoid from northern China. Clin Exp Dermatol 2002, 27:319-321.
48. Okazaki A., Miyagawa S., Yamashina Y., Kitamura W., Shirai T. Polymorphisms of HLA-DR and -DQ genes in Japanese patients with bullous pemphigoid. J Dermatol 2000, 27:149-156.
49. Carrozzo M., Fasano M.E., Broccoletti R., Carbone M., Cozzani E., Rendine S., et al. HLA-DQB1 alleles in Italian patients with mucous membrane pemphigoid predominantly affecting the oral cavity. Br J Dermatol 2001, 145:805-808.
50. Drouet M., Delpuget-Bertin N., Vaillant L., Chauchaix S., Boulanger M.D., Bonnetblanc J.M., et al. HLA-DRB1 and HLA-DQB1 genes in susceptibility and resistance to cicatricial pemphigoid in French Caucasians. Eur J Dermatol 1998, 8:330-333.
51. Chan L.S., Wang T., Wang X.S., Hammerberg C., Cooper K.D. High frequency of HLA-DQB1*0301 allele in patients with pure ocular cicatricial pemphigoid. Dermatology 1994, 189(Suppl. 1):99-101.
52. Dieude P., Boileau C., Allanore Y. Immunogenetics of systemic sclerosis. Autoimmun Rev. 2011, 10:282-290.
53. Oliveira L.C., Porta G., Marin M.L., Bittencourt P.L., Kalil J., Goldberg A.C. Autoimmune hepatitis, HLA and extended haplotypes. Autoimmun Rev. 2011, 10:189-193.
54. Perricone C., Ceccarelli F., Valesini G. An overview on the genetic of rheumatoid arthritis: A never-ending story. Autoimmun Rev 2011, 10(10):599-608.
55. Sadovnick AD. Genetic background of multiple sclerosis. Autoimmun Rev. 2011 (Electronic publication ahead of print).
56. DeLuca G.C., Ramagopalan S.V., Herrera B.M., Dyment D.A., Lincoln M.R., Montpetit A., et al. An extremes of outcome strategy provides evidence that multiple sclerosis severity is determined by alleles at the HLA-DRB1 locus. Proc Natl Acad Sci U S A 2007, 104:20896-20901.
57. Kawabata Y., Ikegami H., Awata T., Imagawa A., Maruyama T., Kawasaki E., et al. Differential association of HLA with three subtypes of type 1 diabetes: fulminant, slowly progressive and acute-onset. Diabetologia 2009, 52:2513-2521.