A novel immunodeficiency disorder characterized by genetic amplification of interleukin 25

Green, M R, Camilleri, E, Gandhi, Maher K., Peake, J, & Griffiths, Lyn R. (2011) A novel immunodeficiency disorder characterized by genetic amplification of interleukin 25. Genes and Immunity, 12(8), pp. 663-666.

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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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ID Code: 62537
Item Type: Journal Article
Refereed: Yes
DOI: 10.1038/gene.2011.50
ISSN: 1476-5470
Divisions: Current > Schools > School of Biomedical Sciences
Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: Copyright 2012 Nature Publishing Group
Deposited On: 16 Sep 2013 01:22
Last Modified: 22 Oct 2013 04:45

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