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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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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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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