dc.contributor.author | Green, Michael | |
dc.contributor.author | Camilleri, Emily | |
dc.contributor.author | Gandhi, Maher | |
dc.contributor.author | Peake, J | |
dc.contributor.author | Griffiths, Lyn | |
dc.date.accessioned | 2019-02-15T12:32:07Z | |
dc.date.available | 2019-02-15T12:32:07Z | |
dc.date.issued | 2011 | |
dc.date.modified | 2012-04-01T22:43:51Z | |
dc.identifier.issn | 14664879 | |
dc.identifier.doi | 10.1038/gene.2011.50 | |
dc.identifier.uri | http://hdl.handle.net/10072/44119 | |
dc.description.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. | |
dc.description.peerreviewed | Yes | |
dc.description.publicationstatus | Yes | |
dc.language | English | |
dc.publisher | Nature Publishing Group | |
dc.publisher.place | United Kingdom | |
dc.relation.ispartofstudentpublication | N | |
dc.relation.ispartofpagefrom | 663 | |
dc.relation.ispartofpageto | 666 | |
dc.relation.ispartofissue | 8 | |
dc.relation.ispartofjournal | Genes and Immunity | |
dc.relation.ispartofvolume | 12 | |
dc.rights.retention | Y | |
dc.subject.fieldofresearch | Immunology not elsewhere classified | |
dc.subject.fieldofresearch | Immunology | |
dc.subject.fieldofresearchcode | 110799 | |
dc.subject.fieldofresearchcode | 1107 | |
dc.title | A novel immunodeficiency disorder characterized by genetic amplification of interleukin 25 | |
dc.type | Journal article | |
dc.type.description | C1 - Articles | |
dc.type.code | C - Journal Articles | |
gro.faculty | Griffith Health, School of Medical Science | |
gro.date.issued | 2011 | |
gro.hasfulltext | No Full Text | |
gro.griffith.author | Griffiths, Lyn | |
gro.griffith.author | Camilleri, Emily T. | |
gro.griffith.author | Green, Michael R. | |
gro.griffith.author | Gandhi, Maher K. | |