77 C/G mutation in the tyrosine phosphatase CD45 gene and autoimmune hepatitis: evidence for a genetic link (original) (raw)

• Manns MP, Strassburg CP . Autoimmune hepatitis: clinical challenges. Gastroenterology 2001; 120: 1502–1517.
  Article CAS Google Scholar
• Czaja AJ, Strettell MD, Thomson LJ et al. Associations between alleles of the major histocompatibility complex and type 1 autoimmune hepatitis. Hepatology 1997; 25: 317–323.
  Article CAS Google Scholar
• Agarwal K, Czaja AJ, Jones DE, Donaldson PT . Cytotoxic T lymphocyteantigen-4 (CTLA-4) gene polymorphisms and susceptibility to type 1 autoimmune hepatitis. Hepatology 2000; 31: 49–53.
  Article CAS Google Scholar
• Vogel A, Strassburg CP, Manns MP . Genetic association of vitamin D receptor polymorphisms with primary biliary cirrhosis and autoimmune hepatitis. Hepatology 2002; 35: 126–131.
  Article CAS Google Scholar
• Vogel A, Strassburg CP, Obermayer-Straub P, Brabant G, Manns MP . The Genetic background of autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy and its Autoimmune Disease Components. J Mol Med 2002; 80: 201–210.
  Article CAS Google Scholar
• Kishihara K, Penninger J, Wallace VA et al. Normal B lymphocyte development but impaired T cell maturation in CD45-exon6 protein tyrosine phosphatase-deficient mice. Cell 1993; 74: 143–156.
  Article CAS Google Scholar
• Byth KF, Conroy LA, Howlett S et al. CD45-null transgenic mice reveal a positive regulatory role for CD45 in early thymocyte development, in the selection of CD4+CD8+ thymocytes, and B cell maturation. J Exp Med 1996; 183: 1707–1718.
  Article CAS Google Scholar
• Eck MJ, Atwell SK, Shoelson SE, Harrison SC . Structure of the regulatory domains of the Src-family tyrosine kinase Lck. Nature 1994; 368: 764–769.
  Article CAS Google Scholar
• Irie-Sasaki J, Sasaki T, Matsumoto W et al. CD45 is a JAK phosphatase and negatively regulates cytokine receptor signalling. Nature 2001; 409: 349–354.
  Article CAS Google Scholar
• Thomas ML, Lefrancois L . Differential expression of the leucocyte-common antigen family. Immunol Today 1988; 9: 320–326.
  Article CAS Google Scholar
• Bell EB, Sparshott SM . Interconversion of CD45R subsets of CD4 T cells in vivo. Nature 1990; 348: 163–166.
  Article CAS Google Scholar
• Schwinzer R, Wonigeit K . Genetically determined lack of CD45R− T cells in healthy individuals. Evidence for a regulatory polymorphism of CD45R antigen expression. J Exp Med 1990; 171: 1803–1808.
  Article CAS Google Scholar
• Jacobsen M, Schweer D, Ziegler A et al. A point mutation in PTPRC is associated with the development of multiple sclerosis. Nat Genet 2000; 26: 495–499.
  Article CAS Google Scholar
• Thude H, Hundrieser J, Wonigeit K, Schwinzer R . A point mutation in the human CD45 gene associated with defective splicing of exon A. Eur J Immunol 1995; 25: 2101–2106.
  Article CAS Google Scholar
• Lynch KW, Weiss A . A CD45 polymorphism associated with multiple sclerosis disrupts an exonic splicing silencer. J Biol Chem 2001; 276: 24 341–24 347.
  Article CAS Google Scholar
• Vorechovsky I, Kralovicova J, Tchilian E et al. Does 77C→G in PTPRC modify autoimmune disorders linked to the major histocompatibility locus? Nat Genet 2001; 29: 22–23.
  Article CAS Google Scholar
• Tchilian EZ, Dawes R, Ramaley PA et al. A CD45 polymorphism associated with abnormal splicing is absent in African populations. Immunogenetics 2002; 53: 980–983.
  Article CAS Google Scholar
• Vogel A, Liermann H, Harms A, Strassburg CP, Manns MP, Obermayer-Straub P . Autoimmune regulator AIRE: evidence for genetic differences between autoimmune hepatitis and hepatitis as part of the autoimmune polyglandular syndrome type 1. Hepatology 2001; 33: 1047–1052.
  Article CAS Google Scholar
• Ramsey C, Winqvist O, Puhakka L et al. Aire deficient mice develop multiple features of APECED phenotype and show altered immune response. Hum Mol Genet 2002; 11: 397–409.
  Article CAS Google Scholar
• Renno T, Zeine R, Girard JM, Gillani S, Dodelet V, Owens T . Selective enrichment of Th1 CD45RBlow CD4+ T cells in autoimmune infiltrates in experimental allergic encephalomyelitis. Int Immunol 1994; 6: 347–354.
  Article CAS Google Scholar
• Sempe P, Ezine S, Marvel J et al. Role of CD4+CD45RA+ T cells in the development of autoimmune diabetes in the non-obese diabetic (NOD) mouse. Int Immunol 1993; 5: 479–489.
  Article CAS Google Scholar
• Cohen PL, Eisenberg RA . Lpr and gld: single gene models of systemic autoimmunity and lymphoproliferative disease. Annu Rev Immunol 1991; 9: 243–269.
  Article CAS Google Scholar