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Research Article

The molecular basis for the presence of two autoimmune diseases occurring simultaneously – Preliminary observations based on computer analysis

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Pages 253-263 | Received 15 Jun 2011, Accepted 12 Oct 2011, Published online: 29 Nov 2011

References

  • Ahmed AR, Graham J, Jordon RE, . Pemphigus: current concepts. Ann Intern Med. 1980; 92:396–405.
  • Nousari HC, Anhalt GJ. Pemphigus and bullous pemphigoid. Lancet. 1999; 354:667–672.
  • Lever WF. Pemphigus and pemphigoid. A review of the advances made since 1964. J Am Acad Dermatol. 1979; 1:2–31.
  • Sami N, Bhol KC, Beutner EH, . Simultaneous presence of mucous membrane pemphigoid and pemphigus vulgaris: molecular characterization of both autoantibodies. Clin Immunol. 2001; 100:219–227.
  • Beutner EH, Jordon RE, Chorzelski TP. The immunopathology of pemphigus and bullous pemphigoid. 1968. J Invest Dermatol. 198992–166S; discussion 7S–8S.
  • Fleming TE, Korman NJ. Cicatricial pemphigoid. J Am Acad Dermatol. 2000; 43:571–591; quiz 91–4.
  • Scully C. A review of common mucocutaneous disorders affecting the mouth and lips. Ann Acad Med Singapore. 1999; 28:704–707.
  • Sami N, Ahmed AR. Dual diagnosis of Pemphigus and pemphigoid. Retrospective review of thirty cases in the literature. Dermatology. 2001; 202:293–301.
  • Grando SA. Autoimmunity to keratinocyte acetylcholine receptors in pemphigus. Dermatology. 2000; 201:290–295.
  • Weissman V, Feuerman EJ, Joshua H, . The correlation between the antibody titers in sera of patients with Pemphigus vulgaris and their clinical state. J Invest Dermatol. 1978; 71:107–109.
  • Amagai M, Tsunoda K, Zillikens D, . The clinical phenotype of pemphigus is defined by the anti-desmoglein autoantibody profile. J Am Acad Dermatol. 1999; 40:167–170.
  • Ishii K, Amagai M, Hall RP, . Characterization of autoantibodies in pemphigus using antigen-specific enzyme-linked immunosorbent assays with baculovirus-expressed recombinant desmogleins. J Immunol. 1997; 159:2010–2017.
  • Sami N, Yeh SW, Ahmed AR. Blistering diseases in the elderly: diagnosis and treatment. Dermatol Clin. 2004; 22:73–86.
  • McCuin JB, Hanlon T, Mutasim DF. Autoimmune bullous diseases: diagnosis and management. Dermatol Nurs. 2006; 18:20–25.
  • Scott JE, Ahmed AR. The blistering diseases. Med Clin North Am. 1998; 82:1239–1283.
  • Wojnarowska F, Venning VA, Burge SM. 2008. Immunobullous Diseases. In: Burns T, Breathnach S, Cox N, Griffiths C. editors. Rook's Textbook of Dermatology (Seventh Edition). Malden, MA: Blackwell Science Ltd60.
  • Yunis JJ, Mobini N, Yunis EJ, . Common major histocompatibility complex class II markers in clinical variants of cicatricial pemphigoid. Proc Natl Acad Sci USA. 1994; 91:7747–7751.
  • Malik M, Gurcan HM, Ahmed AR. Coexistence of mucous membrane pemphigoid and connective-tissue disease. Clin Exp Dermatol. 2009; 35:156–159.
  • Hoffman RW, Maldonado ME. Immune pathogenesis of Mixed Connective Tissue Disease: a short analytical review. Clin Immunol. 2008; 128:8–17.
  • Aringer M, Steiner G, Smolen JS. Does mixed connective tissue disease exist? Yes. Rheum Dis Clin North Am. 2005; 31:411–420, v.
  • Swanton J, Isenberg D. Mixed connective tissue disease: still crazy after all these years. Rheum Dis Clin North Am. 2005; 31:421–436, v.
  • Sullivan WD, Hurst DJ, Harmon CE, . A prospective evaluation emphasizing pulmonary involvement in patients with mixed connective tissue disease. Medicine (Baltimore). 1984; 63:92–107.
  • Burdt MA, Hoffman RW, Deutscher SL, . Long-term outcome in mixed connective tissue disease: longitudinal clinical and serologic findings. Arthritis Rheum. 1999; 42:899–909.
  • Sharp GC, Irvin WS, May CM, . Association of antibodies to ribonucleoprotein and Sm antigens with mixed connective-tissue disease, systematic lupus erythematosus and other rheumatic diseases. N Engl J Med. 1976; 295:1149–1154.
  • Lundberg I, Hedfors E. Clinical course of patients with anti-RNP antibodies. A prospective study of 32 patients. J Rheumatol. 1991; 18:1511–1519.
  • Kotajima L, Aotsuka S, Sumiya M, . Clinical features of patients with juvenile onset mixed connective tissue disease: analysis of data collected in a nationwide collaborative study in Japan. J Rheumatol. 1996; 23:1088–1094.
  • Frandsen PB, Kriegbaum NJ, Ullman S, . Follow-up of 151 patients with high-titer U1RNP antibodies. Clin Rheumatol. 1996; 15:254–260.
  • Nimelstein SH, Brody S, McShane D, . Mixed connective tissue disease: a subsequent evaluation of the original 25 patients. Medicine (Baltimore). 1980; 59:239–248.
  • Ginsburg WW, Conn DL, Bunch TW, . Comparison of clinical and serologic markers in systemic lupus erythematosus and overlap syndrome: a review of 247 patients. J Rheumatol. 1983; 10:235–241.
  • Sanders DY, Huntley CC, Sharp GC. Mixed connective tissue disease in a child. J Pediatr. 1973; 83:642–645.
  • Singsen BH, Swanson VL, Bernstein BH, . A histologic evaluation of mixed connective tissue disease in childhood. Am J Med. 1980; 68:710–717.
  • Hoffman RW, Cassidy JT, Takeda Y, . U1-70-kd autoantibody-positive mixed connective tissue disease in children. A longitudinal clinical and serologic analysis. Arthritis Rheum. 1993; 36:1599–1602.
  • Kramer A. The structure and function of proteins involved in mammalian pre-mRNA splicing. Annu Rev Biochem. 1996; 65:367–409.
  • Pettersson I, Hinterberger M, Mimori T, . The structure of mammalian small nuclear ribonucleoproteins. Identification of multiple protein components reactive with anti-(U1)ribonucleoprotein and anti-Sm autoantibodies. J Biol Chem. 1984; 259:5907–5914.
  • Combe B, Rucheton M, Graafland H, . Clinical significance of anti-RNP and anti-Sm autoantibodies as determined by immunoblotting and immunoprecipitation in sera from patients with connective tissue diseases. Clin Exp Immunol. 1989; 75:18–24.
  • Netter HJ, Guldner HH, Szostecki C, . A recombinant autoantigen derived from the human (U1) small nuclear RNP-specific 68-kd protein. Expression in Escherichia coli and serodiagnostic application. Arthritis Rheum. 1988; 31:616–622.
  • O'Brien RM, Cram DS, Coppel RL, . T-cell epitopes on the 70-kDa protein of the (U1)RNP complex in autoimmune rheumatologic disorders. J Autoimmun. 1990; 3:747–757.
  • Batista FD, Harwood NE. The who, how and where of antigen presentation to B cells. Nat Rev Immunol. 2009; 9:15–27.
  • Shlomchik MJ, Craft JE, Mamula MJ. From T to B and back again: positive feedback in systemic autoimmune disease. Nat Rev Immunol. 2001; 1:147–153.
  • Malik M, Ahmed AR. Dual diagnosis of pemphigus vulgaris and connective tissue disease. J Am Acad Dermatol. 2006; 55:699–704.
  • Valeyrie-Allanore L, Sassolas B, Roujeau JC. Drug-induced skin, nail and hair disorders. Drug Saf. 2007; 30:1011–1030.
  • Nigen S, Knowles SR, Shear NH. Drug eruptions: approaching the diagnosis of drug-induced skin diseases. J Drugs Dermatol. 2003; 2:278–299.
  • Vassileva S. Drug-induced pemphigoid: bullous and cicatricial. Clin Dermatol. 1998; 16:379–387.
  • Marzano AV, Vezzoli P, Crosti C. Drug-induced lupus: an update on its dermatologic aspects. Lupus. 2009; 18:935–940.
  • Katz U, Zandman-Goddard G. Drug-induced lupus: an update. Autoimmun Rev. 2010; 10:46–50.
  • Alarcon-Segovia D. Mixed connective tissue disease: some statements. Clin Rheumatol. 1982; 1:81–83.
  • Alarcon-Segovia D, Cardiel MH. Comparison between 3 diagnostic criteria for mixed connective tissue disease. Study of 593 patients. J Rheumatol. 1989; 16:328–334.
  • Barnadas MA, Rubiales MV, Gonzalez MJ, . Enzyme-linked immunosorbent assay (ELISA) and indirect immunofluorescence testing in a bullous pemphigoid and pemphigoid gestationis. Int J Dermatol. 2008; 47:1245–1249.
  • Kobayashi M, Amagai M, Kuroda-Kinoshita K, . BP180 ELISA using bacterial recombinant NC16a protein as a diagnostic and monitoring tool for bullous pemphigoid. J Dermatol Sci. 2002; 30:224–232.
  • Amagai M, Komai A, Hashimoto T, . Usefulness of enzyme-linked immunosorbent assay using recombinant desmogleins 1 and 3 for serodiagnosis of pemphigus. Br J Dermatol. 1999; 140:351–357.
  • Rashid KA, Gurcan HM, Ahmed AR. Antigen specificity in subsets of mucous membrane pemphigoid. J Invest Dermatol. 2006; 126:2631–2636.
  • Bunce M, Welsh K. 2000. PCR-SSP typing of HLA class I and class II alleles. In: AB Hahn, GA Land, RM Strothman. editors. ASHI Laboratory Manual. Mt. Laurel, NJ: ASHI Publications19.
  • Lafuente EM, Reche PA. Prediction of MHC-peptide binding: a systematic and comprehensive overview. Curr Pharm Des. 2009; 15:3209–3220.
  • Reche PA, Glutting JP, Reinherz EL. Prediction of MHC class I binding peptides using profile motifs. Hum Immunol. 2002; 63:701–709.
  • Reche PA, Glutting JP, Zhang H, . Enhancement to the RANKPEP resource for the prediction of peptide binding to MHC molecules using profiles. Immunogenetics. 2004; 56:405–419.
  • Reche PA, Keskin DB, Hussey RE, . Elicitation from virus-naive individuals of cytotoxic T lymphocytes directed against conserved HIV-1 epitopes. Med Immunol. 2006; 5:1.
  • Thoma-Uszynski S, Uter W, Schwietzke S, . 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.
  • Lin MS, Fu CL, Giudice GJ, . 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.
  • Hacker-Foegen MK, Zillikens D, Giudice GJ, . T cell receptor gene usage of BP180-specific T lymphocytes from patients with bullous pemphigoid and pemphigoid gestationis. Clin Immunol. 2004; 113:179–186.
  • Budinger L, Borradori L, Yee C, . 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.
  • Lin MS, Swartz SJ, Lopez A, . Development and characterization of desmoglein-3 specific T cells from patients with pemphigus vulgaris. J Clin Invest. 1997; 99:31–40.
  • Wucherpfennig KW, Yu B, Bhol K, . Structural basis for major histocompatibility complex (MHC)-linked susceptibility to autoimmunity: charged residues of a single MHC binding pocket confer selective presentation of self-peptides in pemphigus vulgaris. Proc Natl Acad Sci USA. 1995; 92:11935–11939.
  • Riechers R, Grotzinger J, Hertl M. HLA class II restriction of autoreactive T cell responses in pemphigus vulgaris: review of the literature and potential applications for the development of a specific immunotherapy. Autoimmunity. 1999; 30:183–196.
  • Ahmed AR, Park MS, Tiwari JL, . Association of DR4 with pemphigus. Exp Clin Immunogenet. 1987; 4:8–16.
  • Lombardi ML, Mercuro O, Ruocco V, . Common human leukocyte antigen alleles in pemphigus vulgaris and pemphigus foliaceus Italian patients. J Invest Dermatol. 1999; 113:107–110.
  • Tong JC, Bramson J, Kanduc D, . Modeling the bound conformation of Pemphigus vulgaris-associated peptides to MHC Class II DR and DQ alleles. Immunome Res. 2006; 2:1.
  • Delgado JC, Hameed A, Yunis JJ, . Pemphigus vulgaris autoantibody response is linked to HLA-DQB1*0503 in Pakistani patients. Hum Immunol. 1997; 57:110–119.
  • Loiseau P, Lecleach L, Prost C, . HLA class II polymorphism contributes to specify desmoglein derived peptides in pemphigus vulgaris and pemphigus foliaceus. J Autoimmun. 2000; 15:67–73.
  • Miyagawa S, Higashimine I, Iida T, . HLA-DRB1*04 and DRB1*14 alleles are associated with susceptibility to pemphigus among Japanese. J Invest Dermatol. 1997; 109:615–618.
  • Lee E, Lendas KA, Chow S, . Disease relevant HLA class II alleles isolated by genotypic, haplotypic, and sequence analysis in North American Caucasians with pemphigus vulgaris. Hum Immunol. 2006; 67:125–139.
  • Tron F, Gilbert D, Mouquet H, . Genetic factors in pemphigus. J Autoimmun. 2005; 24:319–328.
  • Gazit E, Loewenthal R. The immunogenetics of pemphigus vulgaris. Autoimmun Rev. 2005; 4:16–20.
  • Ahmed AR, Wagner R, Khatri K, . Major histocompatibility complex haplotypes and class II genes in non-Jewish patients with pemphigus vulgaris. Proc Natl Acad Sci USA. 1991; 88:5056–5060.
  • Sinha AA, Brautbar C, Szafer F, . A newly characterized HLA DQ beta allele associated with pemphigus vulgaris. Science. 1988; 239:1026–1029.
  • Loewenthal R, Slomov Y, Gonzalez-Escribano MF, . Common ancestral origin of pemphigus vulgaris in Jews and Spaniards: a study using microsatellite markers. Tissue Antigens. 2004; 63:326–334.
  • Glorio R, Rodriguez Costa G, Haas R, . HLA haplotypes and class II molecular alleles in Argentinian patients with pemphigus vulgaris. J Cutan Med Surg. 2002; 6:422–426.
  • Brick C, Belgnaoui FZ, Atouf O, . Pemphigus and HLA in Morocco. Transfus Clin Biol. 2007; 14:402–406.
  • Delgado JC, Yunis DE, Bozon MV, . MHC class II alleles and haplotypes in patients with pemphigus vulgaris from India. Tissue Antigens. 1996; 48:668–672.
  • Carcassi C, Cottoni F, Floris L, . HLA haplotypes and class II molecular alleles in Sardinian and Italian patients with pemphigus vulgaris. Tissue Antigens. 1996; 48:662–667.
  • Gonzalez-Escribano MF, Jimenez G, Walter K, . Distribution of HLA class II alleles among Spanish patients with pemphigus vulgaris. Tissue Antigens. 1998; 52:275–278.
  • Hoffman RW, Rettenmaier LJ, Takeda Y, . Human autoantibodies against the 70-kd polypeptide of U1 small nuclear RNP are associated with HLA-DR4 among connective tissue disease patients. Arthritis Rheum. 1990; 33:666–673.
  • Genth E, Zarnowski H, Mierau R, . HLA-DR4 and Gm(1,3;5,21) are associated with U1-nRNP antibody positive connective tissue disease. Ann Rheum Dis. 1987; 46:189–196.
  • Kaneoka H, Hsu KC, Takeda Y, . Molecular genetic analysis of HLA-DR and HLA-DQ genes among anti-U1-70-kd autoantibody positive connective tissue disease patients. Arthritis Rheum. 1992; 35:83–94.
  • Smolen JS, Steiner G. Mixed connective tissue disease: to be or not to be?. Arthritis Rheum. 1998; 41:768–777.
  • Black CM, Maddison PJ, Welsh KI, . HLA and immunoglobulin allotypes in mixed connective tissue disease. Arthritis Rheum. 1988; 31:131–134.
  • Hoffman RW, Sharp GC, Deutscher SL. Analysis of anti-U1 RNA antibodies in patients with connective tissue disease. Association with HLA and clinical manifestations of disease. Arthritis Rheum. 1995; 38:1837–1844.
  • Smolen JS, Klippel JH, Penner E, . HLA-DR antigens in systemic lupus erythematosus: association with specificity of autoantibody responses to nuclear antigens. Ann Rheum Dis. 1987; 46:457–462.
  • Ruuska P, Hameenkorpi R, Forsberg S, . Differences in HLA antigens between patients with mixed connective tissue disease and systemic lupus erythematosus. Ann Rheum Dis. 1992; 51:52–55.
  • Delgado JC, Turbay D, Yunis EJ, . A common major histocompatibility complex class II allele HLA-DQB1* 0301 is present in clinical variants of pemphigoid. Proc Natl Acad Sci USA. 1996; 93:8569–8571.
  • Setterfield J, Theron J, Vaughan RW, . 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.
  • Carrozzo M, Fasano ME, Broccoletti R, . HLA-DQB1 alleles in Italian patients with mucous membrane pemphigoid predominantly affecting the oral cavity. Br J Dermatol. 2001; 145:805–808.
  • Oyama N, Setterfield JF, Powell AM, . Bullous pemphigoid antigen II (BP180) and its soluble extracellular domains are major autoantigens in mucous membrane pemphigoid: the pathogenic relevance to HLA class II alleles and disease severity. Br J Dermatol. 2006; 154:90–98.
  • Redman RS, Thorne EG. Cicatricial pemphigoid in a patient with systemic lupus erythematosus. Arch Dermatol. 1981; 117:109–110.
  • Spigel GT, Winkelmann RK. Cicatricial pemphigoid and rheumatoid arthritis. Arch Dermatol. 1978; 114:415–417.
  • Peyri J, Servitje O, Ribera M, . Cicatricial pemphigoid in a patient with rheumatoid arthritis treated with D-penicillamine. J Am Acad Dermatol. 1986; 14:681.
  • Spigel GT. Association of cicatricial pemphigoid and rheumatoid arthritis. Arch Dermatol. 1979; 115:108–109.
  • Malik M, Ahmed AR. Concurrence of systemic lupus erythematosus and pemphigus: coincidence or correlation?. Dermatology. 2007; 214:231–239.
  • Chan HL. Pemphigus vulgaris associated with systemic lupus erythematosus. Int J Dermatol. 1999; 38:948.
  • Kuchabal DS, Kuchabal SD, Pandit AM, . Pemphigus vulgaris associated with systemic lupus erythematosus. Int J Dermatol. 1998; 37:636–638.
  • Fong PH, Chan HL. Systemic lupus erythematosus with pemphigus vulgaris. Arch Dermatol. 1985; 121:26–27.
  • Russell JG. Pemphigus, Sjogren's syndrome and mucosal pigmentation. Acta Stomatol Int. 1987; 8:25–29.
  • Shapiro M, Jimenez S, Werth VP. Pemphigus vulgaris induced by D-penicillamine therapy in a patient with systemic sclerosis. J Am Acad Dermatol. 2000; 42:297–299.
  • Nanda A, Kapoor MM, Dvorak R, . Coexistence of pemphigus vulgaris with systemic lupus erythematosus. Int J Dermatol. 2004; 43:393–394.
  • Somorin AO, Agbakwu SN, Nwaefuna A. Systemic lupus erythematosus and pemphigus vulgaris preceded by depressive psychosis. Cent Afr J Med. 1981; 27:12–14.
  • Hidalgo-Tenorio C, Sabio-Sanchez JM, Tercedor-Sanchez J, . Pemphigus vulgaris and systemic lupus erythematosus in a 46-y-old man. Lupus. 2001; 10:824–826.
  • Hertl M, Karr RW, Amagai M, . Heterogeneous MHC II restriction pattern of autoreactive desmoglein 3 specific T cell responses in pemphigus vulgaris patients and normals. J Invest Dermatol. 1998; 110:388–392.
  • McCluskey J, Farris AD, Keech CL, . Determinant spreading: lessons from animal models and human disease. Immunol Rev. 1998; 164:209–229.
  • Mitchison NA. The carrier effect in the secondary response to hapten-protein conjugates. II. Cellular cooperation. Eur J Immunol. 1971; 1:18–27.
  • Lake P, Mitchison NA. Regulatory mechanisms in the immune response to cell-surface antigens. Cold Spring Harb Symp Quant Biol. 1977; 41 Pt 2:589–595.
  • Mamula MJ. Lupus autoimmunity: from peptides to particles. Immunol Rev. 1995; 144:301–314.
  • Mamula MJ, Janeway CAJr. Do B cells drive the diversification of immune responses?. Immunol Today. 1993; 14:151–152; discussion 3–4.
  • Roth R, Gee RJ, Mamula MJ. B lymphocytes as autoantigen-presenting cells in the amplification of autoimmunity. Ann NY Acad Sci. 1997; 815:88–104.
  • Lehmann PV, Forsthuber T, Miller A, . Spreading of T-cell autoimmunity to cryptic determinants of an autoantigen. Nature. 1992; 358:155–157.
  • Chan LS, Vanderlugt CJ, Hashimoto T, . Epitope spreading: lessons from autoimmune skin diseases. J Invest Dermatol. 1998; 110:103–109.
  • Chan LS, Soong HK, Foster CS, . Ocular cicatricial pemphigoid occurring as a sequela of Stevens-Johnson syndrome. JAMA. 1991; 266:1543–1546.
  • Paisansinsup T, Deshmukh US, Chowdhary VR, . HLA class II influences the immune response and antibody diversification to Ro60/Sjogren's syndrome-A: heightened antibody responses and epitope spreading in mice expressing HLA-DR molecules. J Immunol. 2002; 168:5876–5884.

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