A novel immunodeficiency disorder characterized by genetic amplification of interleukin 25

Green, M. R., Camilleri, E., Gandhi, M. K., Peake, J. and Griffiths, L. R. (2011) A novel immunodeficiency disorder characterized by genetic amplification of interleukin 25. Genes and Immunity, 12 8: 663-666. doi:10.1038/gene.2011.50

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Author Green, M. R.
Camilleri, E.
Gandhi, M. K.
Peake, J.
Griffiths, L. R.
Title A novel immunodeficiency disorder characterized by genetic amplification of interleukin 25
Journal name Genes and Immunity   Check publisher's open access policy
ISSN 1476-5470
1466-4879
Publication date 2011-12
Sub-type Article (original research)
DOI 10.1038/gene.2011.50
Volume 12
Issue 8
Start page 663
End page 666
Total pages 4
Place of publication London, United Kingdom
Publisher Nature Publishing Group
Collection year 2012
Language eng
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.
Keyword Immunodeficiency
IL25
T-cell
Th1
Th2
Copy number variation
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2012 Collection
School of Medicine Publications
 
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Created: Wed, 14 Mar 2012, 10:19:41 EST by Melanie Thomas on behalf of Queensland Institute of Medical Research