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.

  • Research Highlight
  • Published:

Immunodeficiency

Modelling Omenn syndrome

Nature Reviews Immunology volume 7, pages 416–417 (2007)Cite this article

Most patients with Omenn syndrome have hypomorphic mutations in one of their two recombination-activating genes (RAG1 or RAG2) and they develop severe combined immunodeficiency, alopecia, erythroderma, hepatosplenomegaly and other features of autoimmunity. In addition, the syndrome is associated with eosinophilia, low numbers of B cells, elevated serum IgE levels and normal to increased numbers of activated T cells.

Several patients with Omenn syndrome carry a mutation (Arg229Gln) in RAG2, so Marrella et al. generated knock-in mice bearing this mutation. Khiong et al. identified a spontaneous mutation (Arg972Gln) in mouse RAG1, which is identical to a mutation in a patient with Omenn syndrome. So, both groups studied these mice to determine whether they could be used as models of Omenn syndrome.

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

References

ORIGINAL RESEARCH PAPERS

  1. Marrella, V. et al. A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome. J. Clin. Invest. 117, 1260–1269 (2007)

    Article  CAS  Google Scholar 

  2. Khiong, K. et al. Homeostatically proliferating CD4+ T cells are involved in the pathogenesis of an Omenn syndrome murine model. J. Clin. Invest. 117, 1270–1281 (2007)

    Article  CAS  Google Scholar 

FURTHER READING

  1. Wong, S.-Y. & Roth, D. B. Murine models of Omenn syndrome. J. Clin. Invest. 117, 1213–1216 (2007)

    Article  CAS  Google Scholar 

Download references

Authors
  1. Olive Leavy
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Leavy, O. Modelling Omenn syndrome. Nat Rev Immunol 7, 416–417 (2007). https://doi.org/10.1038/nri2106

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1038/nri2106

Search

Advanced search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing