Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Brief Communication
  • Published:

Enhanced frequency of a PTPRC (CD45) exon A mutation (77C→G) in systemic sclerosis

Genes & Immunity volume 4, pages 168–169 (2003)Cite this article

Abstract

A point mutation in exon A (C to G transversion at position 77) of human PTPRC (CD45) has recently been associated with the development of multiple sclerosis (MS) for at least a subgroup of patients. In the present report, we studied the frequency of the 77C→G transversion in two other autoimmune diseases namely systemic sclerosis (SSc) and systemic lupus erythematosus (SLE). The mutation was found with significantly enhanced frequency in patients suffering from SSc suggesting that PTPRC could play a role as susceptibility gene not only in MS but also in other autoimmune diseases. Further understanding of the mode of interaction of mutant PTPRC with other susceptibility genes may uncover mechanisms common in various autoimmune disorders.

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

Similar content being viewed by others

References

  1. Penninger JM, Irie-Sasaki J, Sasaki T, Oliveira-dos-Santos AJ . CD45: new jobs for an old acquaintance. Nature Immunol 2001; 2: 389–396.

    Article  CAS  Google Scholar 

  2. 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 

  3. 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 

  4. Jacobsen M, Schweer D, Ziegler A et al. A point mutation in PTPRC (CD45) is associated with the development of multiple sclerosis. Nature Gen 2000; 26: 495–499.

    Article  CAS  Google Scholar 

  5. Vorechovsky I, Kralovicova J, Tchilian E et al. Does 77C G in PTPRC modify autoimmune disorders linked to the major histocompatibility locus? Nature Gen 2001; 29: 22–24.

    Article  CAS  Google Scholar 

  6. Barcellos LF, Caillier S, Dragone L et al. PTPRC (CD45) is not associated with the development of multiple sclerosis in US patients. Nature Gen 2001; 29: 23–24.

    Article  CAS  Google Scholar 

  7. Majeti R, Xu Z, Parslow TG et al. An inactivating point mutation in the inhibitory wedge of CD45 causes lymphoproliferation and autoimmunity. Cell 2000; 103: 1059–1070.

    Article  CAS  Google Scholar 

  8. Schwinzer R, Schraven B, Kyas U, Meuer SC, Wonigeit K . Phenotypical and biochemical characterization of a variant CD45R expression pattern in human leukocytes. Eur J Immunol 1992; 22: 1095–1098.

    Article  CAS  Google Scholar 

  9. Tchilian EZ, Wallace DL, Imami N et al. The exon A (C77G) mutation is a common cause of abnormal CD45 splicing in humans. J Immunol 2001; 166: 6144–6148.

    Article  CAS  Google Scholar 

  10. Tchilian EZ, Wallace DL, Dawes R et al. A point mutation in CD45 may be associated with an enhanced risk of HIV-1 infection. AIDS 2001; 15: 1892–1894.

    Article  CAS  Google Scholar 

  11. Wagner R, Morgan G, Strobel S . A prospective study of CD45 isoform expression in haemophagocytic lymphohistiocytosis; an abnormal inherited immunophenotype in one family. Clin Exp Immunol 1995; 99: 216–219.

    Article  CAS  Google Scholar 

  12. Bujan W, Schandene L, Ferster A, De Valck C, Goldman M, Sariban E . Abnormal T cell phenotype in familial erythrophagocytic lymphohistiocytosis. Lancet 1993; 342: 1296.

    Article  CAS  Google Scholar 

  13. Kotzin BL . Systemic lupus erythematosus. Cell 1996; 85: 303–306.

    Article  CAS  Google Scholar 

  14. Tan FK, Arnett FC . Genetic factors in the etiology of systemic sclerosis and Raynaud phenomenon. Curr Opin Rheumatol 2000; 12: 509–511.

    Article  Google Scholar 

Download references

Acknowledgements

This work was supported by the Deutsche Forschungsgemeinschaft (Grant Schw437-2), Deutsche Stiftung Sklerodermie, and Bundesministerium für Bildung und Forschung (Kompetenznetz ”Rheuma”; Grant C2.12).

Author information

Authors and Affiliations

  1. Transplantationslabor, Klinik für Viszeral- und Transplantationschirurgie, Zentrum Chirurgie

    R Schwinzer, J Hundrieser, S Ehlers & K Wonigeit

  2. Abteilung Klinische Immunologie, Zentrum Innere Medizin, Medizinische Hochschule Hannover,

    T Witte, T Momot & R E Schmidt

  3. Abteilung Dermatologie, Universität Köln, Germany

    N Hunzelmann & T Krieg

Authors
  1. R Schwinzer
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. T Witte
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. J Hundrieser
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. S Ehlers
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. T Momot
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. N Hunzelmann
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. T Krieg
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. R E Schmidt
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. K Wonigeit
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to R Schwinzer.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Schwinzer, R., Witte, T., Hundrieser, J. et al. Enhanced frequency of a PTPRC (CD45) exon A mutation (77C→G) in systemic sclerosis. Genes Immun 4, 168–169 (2003). https://doi.org/10.1038/sj.gene.6363894

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/sj.gene.6363894

Keywords

Search

Advanced search

Quick links