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dc.contributor.authorGreen, Michael
dc.contributor.authorCamilleri, Emily
dc.contributor.authorGandhi, Maher
dc.contributor.authorPeake, J
dc.contributor.authorGriffiths, Lyn
dc.date.accessioned2019-02-15T12:32:07Z
dc.date.available2019-02-15T12:32:07Z
dc.date.issued2011
dc.date.modified2012-04-01T22:43:51Z
dc.identifier.issn14664879
dc.identifier.doi10.1038/gene.2011.50
dc.identifier.urihttp://hdl.handle.net/10072/44119
dc.description.abstractMany 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.
dc.description.peerreviewedYes
dc.description.publicationstatusYes
dc.languageEnglish
dc.publisherNature Publishing Group
dc.publisher.placeUnited Kingdom
dc.relation.ispartofstudentpublicationN
dc.relation.ispartofpagefrom663
dc.relation.ispartofpageto666
dc.relation.ispartofissue8
dc.relation.ispartofjournalGenes and Immunity
dc.relation.ispartofvolume12
dc.rights.retentionY
dc.subject.fieldofresearchImmunology not elsewhere classified
dc.subject.fieldofresearchImmunology
dc.subject.fieldofresearchcode110799
dc.subject.fieldofresearchcode1107
dc.titleA novel immunodeficiency disorder characterized by genetic amplification of interleukin 25
dc.typeJournal article
dc.type.descriptionC1 - Articles
dc.type.codeC - Journal Articles
gro.facultyGriffith Health, School of Medical Science
gro.date.issued2011
gro.hasfulltextNo Full Text
gro.griffith.authorGriffiths, Lyn
gro.griffith.authorCamilleri, Emily T.
gro.griffith.authorGreen, Michael R.
gro.griffith.authorGandhi, Maher K.


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    Contains articles published by Griffith authors in scholarly journals.

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