Autoimmunity of the dermal-epidermal junction

European Journal of Dermatology

Volumn 9, Issue 6, 1999, Pages 437-442

  Zambruno, Giovanna ^a   Failla, Cristina Maria ^a  

^a LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOANTIBODY; CELL MEMBRANE PROTEIN; COLLAGEN TYPE 7; INTEGRIN; KERATIN; LAMININ; PLECTIN;

AUTOIMMUNE DISEASE; AUTOIMMUNITY; BLISTER; DERMOEPIDERMAL JUNCTION; EPIDERMOLYSIS BULLOSA ACQUISITA; HEMIDESMOSOME; HUMAN; INTERMEDIATE FILAMENT; MUCOUS MEMBRANE PEMPHIGOID; PEMPHIGOID; REVIEW; STRUCTURE ACTIVITY RELATION;

ANIMALS; AUTOIMMUNITY; EPIDERMIS; EPIDERMOLYSIS BULLOSA; HUMANS; PEMPHIGOID, BENIGN MUCOUS MEMBRANE; PEMPHIGOID, BULLOUS; SKIN PHYSIOLOGY;

EID: 0032864787     PISSN: 11671122     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (72)

1. Lin MS, Mascarò JM, Liu Z, Espana A, Diaz LA. The desmosome and hemidesmosome in cutaneous autoimmunity. Clin Exp Immunol 1997; 107 (suppl. 1): 9-15.
2. Salmon-Ehr V, Bernard P. Physiopathology of autoimmune bullous dermatoses of the basement membrane. Ann Dermatol Venereol 1998; 125: 817-23.
3. Dabelsteen E. Molecular biological aspects of acquired bullous diseases. Crit Rev Oral Biol Med 1998; 9: 162-78.
4. Christiano AM, Uitto J. Molecular complexity of the cutaneous basement membrane zone. Relevations from the paradigms of epidermolysis bullosa. Exp Dermatol 1996; 5: 1-11.
5. Zambruno G, Ortonne J, Meneguzzi G. Inherited epidermolysis bullosa. In: Immunohistochemistry of the skin. Kanitakis J, Vassileva S, Woodley D, eds. Chapman & Hall Medical, London, 1998: 126-42.
6. Lazarova Z, Yancey KB. Reactivity of autoantibodies from patients with defined subepidermal bullous diseases against 1 mol/L salt-split skin. J Am Acad Dermatol 1996; 35: 398-403.
7. Shimizu H. New insights into the immunoultrastructural organization of cutaneous basement membrane zone molecules. Exp Dermatol 1998; 7: 303-13.
8. Borradori L, Sonnenberg A. Hemidesmosomes: roles in adhesion, signaling and human diseases. Curr Opin Cell Biol 1996; 8: 647-56.
9. Ruhrberg C, Watt F. The plakin family: versatile organizers of cytoskeletal architecture. Curr Opin Genet Dev 1997; 7: 392-7.
10. Mahoney MG, Aho S, Uitto J, Stanley JR. The members of the plakin family of proteins recognized by paraneoplastic pemphigus antibodies include periplakin. J Invest Dermatol 1998; 111: 308-13.
11. Guo L, Degenstein L, Dowling J, Yu QC, Wollmann R, Perman B, Fuchs E. Gene targeting of BPAG1: abnormalities in mechanical strength and cell migration in strafied epithelia and neurologic degeneration. Cell 1995; 81: 233-43.
12. Borradori L, Koch PJ, Niessen CM, Erkeland S, van Leusden MR, Sonnenberg A. The localization of bullous pemphigoid antigen 180 (BP180) in hemidesmosomes is mediated by its cytoplasmic domain and seems to be regulated by the β4 integrin subunit. J Cell Biol 1997; 136: 1333-47.
13. Schaapveld RQJ, Borradori L, Geerts D, van Leusden MR, Kuikman I, Nievers MG, Niessen CM, Steenbergen RDM, Snijders PJF, Sonnenberg A. Hemidesmosome formation is initiated by the β4 integrin subunit, requires complex formation of β4 and HD1/plectin, and involves a direct interaction between β4 and the bullous pemphigoid antigen 180. J Cell Biol 1998; 142:271-84.
14. Wiche G. Role of plectin in cytoskeleton organization and dynamics. J Cell Sci 1998; 111: 2477-86.
15. Rezniczek GA, de Pereda JM, Reipert S, Wiche G. Linking integrin α6β4-based cell adhesion to the intermediate filament cytoskeleton: direct interaction between the β4 subunit and plectin at multiple molecular sites. J Cell Biol 1998; 141: 209-25.
16. Andra K, Lassmann H, Bittner R, Shorny S, Fassler R, Propst F, Wiche G. Targeted inactivation of plectin reveals essential function in maintaining the integrity of skin, muscle, and heart cytoarchitecture. Genes & Develop 1997; 11: 3143-56.
17. Vidal F, Aberdam D, Miquel C, Christiano AM, Pulkkinen L, Uitto J, Ortonne JP, Meneguzzi J. Integrin β4 mutations associated with junctional epidermolysis bullosa with pyloric atresia. Nature Genet 1995; 10: 229-34.
18. Ruzzi L, Gagnoux-Palacios L, Pinola M, Belli S, Meneguzzi G, D'Alessio M, Zambruno G. A homozygous mutation in the integrin alpha 6 gene in junctional epidermolysis bullosa with pyloric atresia. J Clin Invest 1997; 99: 2826-31.
19. Dowling J, Yu Q, Fuchs E. β4 integrin is required for hemidesmosome formation, cell adhesion and cell survival. J Cell Biol 1996; 134: 559-72.
20. George-Labouesse E, Messaddeq N, Yehia G, Cadalbert L, Dierich A, Le Meur M. Absence of integrin α6 leads to epidermolysis bullosa and neonatal death in mice. Nature Gen 1996; 13: 370-3.
21. Van der Neut R, Krimpenfort P, Calafat J, Niessen C, Sonnenberg A. Epithelial detachment due to absence of hemidesmosomes in integrin β4 null mice. Nature Genet 1996; 13: 366-9.
22. Giancotti FG. Integrin signaling: specificity and control of cell survival and cell cycle progression. Curr Opin Cell Biol 1997; 9: 691-700.
23. Murgia C, Blaikie P, Kim N, Dans M, Petrie H, Giancotti FG. Cell cycle and adhesion defects in mice carrying a targeted deletion of the integrin beta 4 cytoplasmic domain. EMBO J 1998; 17: 3940-51.
24. Giudice GJ, Emery DJ, Diaz LA. Cloning and primary structural analysis of the bullous pemphigoid autoantigen BP180. J Invest Dermatol 1992; 99: 243-50.
25. Darling TN, Bauer JW, Hintner H, Yancey KB. Generalized atrophic benign epidermolysis bullosa Adv Dermatol 1997; 13: 87-119.
26. Hirako Y, Usukuro J, Uematsu T, Kitajima Y, Owaribe K. Cleavage of BP180, a 180-kDa bullous pemphigoid antigen, yields a 120-kDa collagenous extracellular polypeptide. J Biol Chem 1998; 273: 9711-7.
27. Schacke H, Schumann H, Hammami-Hauasli N, Raghunath M, Bruckner-Tuderman L. Two form of collagen XVII in keratinocytes. J Biol Chem 1998; 273: 25937-43.
28. Burgeson RE, Christiano AM. The dermal-epidermal junction. Curr Opin Cell Biol 1997; 9: 651-8.
29. Aberdam D, Galliano MF, Vailly J, Pulkkinen L, Bonifas J, Christiano AM, Tryggvason K, Uitto J, Epstein EH Jr, Ortonne JP. Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the γ2 subunit of nicein/kalinin (Laminin-5). Nature Genet 1994; 6: 299-304.
30. Dellambra E, Vailly J, Pellegrini G, Bondanza S, Golisano O, Macchia C, Zambruno G, Meneguzzi G, De Luca M. Corrective transduction of human epidermal stem cells in laminin-5-dependent junctional epidermolysis bullosa. Hum Gene Ther 1998; 9: 1359-70.
31. Rousselle P, Keene DR, Ruggiero F, Champlioud M, van der Rest M Burgeson RE. Laminin 5 binds the NC-1 domain of type VII collagen. J Cell Biol 1997; 138: 719-28.
32. Chen M, Marinkovich P, Veis A, Cai X, Rao N, O'Toole RN, Woodley DT. Interactions of the amino-terminal noncollagenous (NCl) domain of type VII collagen with extracellular matrix components. J Biol Chem 1997; 272: 14516-22.
33. Korman NJ. Bullous pemphigoid. The latest in diagnosis, prognosis, and therapy. Arch Dermatol 1998; 134: 1137-41.
34. Labib RS, Anhalt GJ, Patel HP, Mutasim DF, Diaz LA. Molecular heterogeneity of the bullous pemphigoid antigens as detected by immunoblotting. J Immunol 1986; 136: 1231-5.
35. Stanley JR, Hawley-Nelson P, Yuspa SH, Shevach EM, Katz Sl. Characterization of bullous pemphigoid antigen: a unique basement membrane protein of stratified squamous epithelia. Cell 1981; 24: 897-903.
36. Bird P, Friedmann PS, Ling N, Bird AG, Thompson RA. Subclass distribution of IgG autoantibodies in bullous pemphigoid. J Invest Dermatol 1986; 86: 21-5.
37. Bernard P, Aucouturier P, Denis F, Bonnetblanc JM. Immunoblot analysis of IgG subclasses of circulating antibodies in bullous pemphigoid. Clin Immunol Immunopathol 1990; 54: 489-94.
38. Gaucherand M, Nicolas J, Paranhos Baccala G, Rouault J, Reano A, Magaud J, Thivolet J, Jolivet M, Schmitt D. Major antigenic epitopes of bullous pemphigoid 230 kDa antigen map within the C-terminal end of the protein. Evidence using a 55KDa recombinant protein. Br J Dermatol 1995; 132: 190-6.
39. Giudice GJ, Emery DJ, Zelickson BD, Anhalt GJ, Liu Z, Diaz LA. Bullous pemphigoid and herpes gestationis autoantibodies recognize a common non-collagenous site on the BP180 ectodomain. J Immunol 1993; 151: 5742-50.
40. Giudice GJ, Wilske KC, Anhalt GJ, Fairley JA, Taylor AF, Emery DJ, Hoffman RG, Diaz LA. Development of an Elisa to detect anti-BP180 autoantibodies in bullous pemphigoid and herpes gestationis. J Invest Dermatol 1994; 102: 878-81.
41. Zillikens D, Rose PA, Bolding SD, Liu Z, Olague-Marchan M, Diaz LA, Giudice GJ. Tight clustering of extracellular BP180 epitopes recognized by bullous pemphigoid autoantibodies. J Invest Dermatol 1997; 109: 573-9.
42. Nakatani C, Muramatsu T, Shirai T. Immunoreactivity of bullous pemphigoid (BP) autoantibodies against the NC16A and C-terminal domains of the 180 kDa BP antigen (BP180): immunoblot analysis and enzyme-linked immunosorbent assay using BP180 recombinant proteins. Br J Dermatol 1998; 139: 365-70.
43. Perriard J, Jaunin F, Fauvre B, Budinger L, Hertl M, Saurat JH, Borradori L IgG autoantibodies from bullous pemphigoid (BP) patients bind antigenic sites on both the extracellular and the intracellular domains of the BP antigen 180. J Invest Dermatol 1999; 112: 141-7.
44. Vanderlugt CJ, Miller SD. Epitope spreading. Curr Opin Immunol 1996; 8: 831-6.
45. Chan LS, Vanderlugt CJ, Hashimoto T, Nishikawa T, Zone JJ, Black MM, Wojnarowska F, Stevens SR, Chen M, Fairley JA, Woodley DT, Miller SD, Gordon KB. Epitope spreading: lessons from autoimmune skin diseases. J Invest Dermatol 1998; 110: 103-9.
46. Liu Z, Diaz LA, Troy JL, Taylor AF, Emery DJ, Fairley JA, Giudice GJ. A passive transfer model of the organ-specific autoimmune disease, bullous pemphigoid, using antibodies generated against the hemidesmosomal antigen, BP180. J Clin Invest 1993; 92: 2480-8.
47. Liu Z, Diaz LA, Swartz SJ, Troy JL, Fairley JA, Giudice GJ. Molecular mapping of a pathogenically relevant BP180 epitope associated with experimentally induced murine bullous pemphigoid. J Immunol 1995; 155: 5449-54.
48. Liu Z, Giudice GJ, Swartz SJ, Fairley JA, Till GO, Troy JL, Diaz LA. The role of complement in experimental bullous pemphigoid. J Clin Invest 1995; 95: 1539-44.
49. Liu Z, Giudica GJ, Zhou X, Swartz SJ, Troy JL, Fairley JA, Till GO, Diaz LA. A major role for neutrophils in experimental bullous pemphigoid. J Clin Invest 1997; 100: 1256-63.
50. Liu Z, Shipley JM, Vu TH, Zhou X, Diaz LA, Werb Z, Senior RM. Gelatinase B-deficient mice are resistant to experimental bullous pemphigoid. J Exp Med 1998, 188: 475-82.
51. Borrego L, Maynard B, Peterson EA, George T, Iglesias L, Peters MS, Newman W, Gleich GJ, Leiferman KM. Deposition of eosinophil granule proteins precedes blister formation in bullous pemphigoid. Comparison with neutrophil and mast cell granule proteins. Am J Pathol 1996; 148: 897-909.
52. Brocke S, Brautbar C, Steinman L. In vitro proliferative responses and antibody titers specific to human acetylcholine receptor synthetic peptides in patients with myasthenia gravis and relation to MHC class II genes. J Clin invest 1988; 82: 1894-900.
53. Hertl M, Amagai M, Sundaram H, Stanley JR, Ishii K, Katz SI. Recognition of desmoglein 3 by autoreactive T cells in pemphigus vulgaris patients and normals. J Invest Dermatol 1998; 110: 62-6.
54. Lin MS, Swartz SJ, Lopez A, Ding X, Fernandez-Vina MA, Stastny P, Fairley JA, Diaz LA. Development and characterization of desmoglein-3-specific T cells from patients with pemphigus vulgaris. J Clin Invest 1997; 99: 31-40.
55. Budinger L, Borradori L, Yee C, Eming R, Ferencik S, Grosse-Wilde H, Merk HF, Yancey K, Hertl M. Identification and characterization of autoreactive T cell responses to bullous pemphigoid antigen 2 in patients and healthy controls. J Clin Invest 1998; 102: 2082-9.
56. Delgado JC, Turbay D, Yunis EJ, Morton ED, Bhol K, Norman R, Alper CA, Good RA, Ahmed AR. A common major histocompatibility complex class II allele HLA-DQβ1*0301 is present in clinical variants of pemphigoid. Proc Natl Acad Sci USA 1996; 93: 8569-71.
57. Fredrikson S, Sun JB, Huang WH, Li BL, Olsson T, Link H. Cord blood contains high number of autoimmune T cells recognizing multiple myelin proteins and acetylcholine receptor J Immunol 1993; 151: 2217-24.
58. Delaporte E, Dubost-Brama A, Ghohestani R, Nicolas J, Neyrinck JL, Bergoend H, Janin A, Capron M. IgE autoantibodies directed against the major bullous pemphigoid antigen in patients with a severe form of pemphigoid. J Immunol 1996; 157: 3642-7.
59. Bedane C, McMillan JR, Balding SD, Bernard SD, Bernard P, Prost C, Bonnetblanc JM, Diaz LA, Eady RAJ, Giudice GJ. Bullous pemphigoid and cicatricial pemphigoid autoantibodies react with ultrastructurally separable epitopes on the BP180 ectodomain: evidence that BP180 spans the lamina lucida. J Invest Dermatol 1997; 108: 901-7.
60. Murakami H, Nishioka S, Setterfield J, Bhogal BS, Black MM, Zillikens D, Yancey KB, Balding SD, Giudice GJ, Diaz LA, Nishikawa T, Kiyokawa C, Hashimoto T. Analysis of antigens targeted by circulating IgG and IgA autoantibodies in 50 patients with cicatricial pemphigoid. J Dermatol Sci 1998; 17: 39-44.
61. Domloge-Hultsch N, Gammon WR, Briggaman RA, Gil SG, Carter WG, Yancey KB. Epiligrin, the major human keratinocyte integrin ligand, is a target in both an acquired autoimmune and an inherited subepidermal blistering skin disease. J Clin Invest 1992; 90: 1628-33.
62. Lazarova Z, Hsu R, Yee C, Yancey KB. Antiepiligrin cicatricial pemphigoid represents an autoimmune response to subunits present in laminin 5. Br J Dermatol 1998; 139: 791-7.
63. Rousselle P, Lunstrum GP, Keene DR, Burgeson RE. Kalinin: an epithelium-specific basement membrane adhesion molecule that is a component of anchoring filaments. J Cell Biol 1991; 114: 567-76.
64. Lazarova Z, Yee C, Darling T, Briggaman RA, Yancey KB. Passive transfer of anti-laminin 5 antibodies induces subepidermal blisters in neonatal mice. J Clin Invest 1996; 98: 1509-18.
65. Tyagi S, Bhol K, Nataraian K, Livir-Rallatos C, Foster CS, Ahmed AR. Ocular cicatricial pemphigoid antigen: partial sequence and biochemical characterization. Proc Nat Acad Sci USA 1996; 93: 14714-9.
66. Ghohestani RF, Nicolas JF, Rousselle P, Claudy AL. Identification of a 168-kDa mucosal antigen in a subset of patients with cicatricial pemphigoid. J Invest Dermatol 1996; 107: 136-9.
67. Kawahara Y, Amagai M, Ohata Y, Ishii K, Hasegawa Y, Hsu R, Yee C, Yancey KB, Nishikawa T. A case of cicatricial pemphigoid with simultaneous IgG autoantibodies against the 180 kd bullous pemphigoid antigen and laminin 5. J Am Acad Dermatol 1998; 38: 624-7.
68. Woodley DT, Chen M, O'Toole E, Chan L. Epidermolysis bullosa acquisita. In: Diagnostic immunohistrochemistry of the skin. Kanitakis J, Vassileva S, Woodley D, eds. Chapman & Hall, London, 1998: 114-24.
69. Woodley DT, Briggaman RA, O'Keefe EJ, Inman AO, Queen LL, Gammon WR. Identification of the skin basement-membrane autoantigen in epidermolysis bullosa acquisita. N Engl J Med 1994; 310: 1007-13.
70. Lapiere JC, Woodley DT, Parente MG, Iwasaki T, Wynn KC, Christiano AM, Ditto J. Epitope mapping of type VII collagen. J Clin Invest 1993; 92: 1831-9.
71. Tanaka H, Ishida-Yamamoto A, Hashimoto T, Hiramoto K, Harada T, Kawachi Y, Shimizu H, Tanaka T, Kishiyama K, Hopfner B. Takahashi H, Iizuka H, Bruckner-Tuderman L. A novel variant of acquired epidermolysis bullosa with autoantibodies against the central triple-helical domain of type VII collagen. Lab Invest 1997; 77: 623-32.
72. Borradori L, Caldwell JB, Briggaman RA, Burr CE, Gammon WR, James WD, Yancey KB. 1995. Passive transfer of autoantibodies from a patient with multilating epidermolysis bullosa acquisita induces specific alterations in the skin of neonatal mice. Arch Dermatol 1995; 131: 590-5.