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A novel immunodeficiency disorder characterized by genetic amplification of interleukin 25

Genes & Immunity volume 12, pages 663–666 (2011)Cite this article

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Abstract

Many primary immunodeficiency disorders of differing etiologies have been well characterized, and much understanding of immunological processes has been gained by investigating the mechanisms of disease. Here, we have used a whole-genome approach, employing single-nucleotide polymorphism and gene expression microarrays, to provide insight into the molecular etiology of a novel immunodeficiency disorder. Using DNA copy number profiling, we define a hyperploid region on 14q11.2 in the immunodeficiency case associated with the interleukin (IL)-25 locus. This alteration was associated with significantly heightened expression of IL25 following T-cell activation. An associated dominant type 2 helper T cell bias in the immunodeficiency case provides a mechanistic explanation for recurrence of infections by pathogens met by Th1-driven responses. Furthermore, this highlights the capacity of IL25 to alter normal human immune responses.

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Acknowledgements

We acknowledge the contribution of clinical immunologists that have provided their findings, including Prof Rebecca Buckley (Duke University Medical Centre, NC, USA), Dr Alison Jones (Great Ormond Street Hospital for Children, London, England) and Dr Alain Fischer (Necker University Hospital, Paris, France). Also, Michael R Green was supported by the Herbert Family Philanthropic Scholarship.

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Authors and Affiliations

  1. Genomics Research Centre, Griffith Institute for Health and Medical Research, Griffith University, Gold Coast, Queensland, Australia

    M R Green, E Camilleri & L R Griffiths

  2. Griffith Medical Research College, A Joint Program of Griffith University and the Queensland Institute of Medical Research, QIMR, Herston, Queensland, Australia

    M R Green, M K Gandhi & L R Griffiths

  3. Clinical Immunohaematology Laboratory, Queensland Institute of Medical Research, Herston, Queensland, Australia

    M K Gandhi

  4. Queensland Pediatric Immunology and Allergy Service, Royal Children's Hospital, Herston, Queensland, Australia

    J Peake

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  1. M R Green
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  2. E Camilleri
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  3. M K Gandhi
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  4. J Peake
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  5. L R Griffiths
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Corresponding author

Correspondence to L R Griffiths.

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Green, M., Camilleri, E., Gandhi, M. et al. A novel immunodeficiency disorder characterized by genetic amplification of interleukin 25. Genes Immun 12, 663–666 (2011). https://doi.org/10.1038/gene.2011.50

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