A novel immunodeficiency disorder characterized by genetic amplification of interleukin 25

M. R. Green, E. Camilleri, M. K. Gandhi, J. Peake, L. R. Griffiths

Research output: Contribution to journalArticlepeer-review

5 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)663-666
Number of pages4
JournalGenes and Immunity
Issue number8
StatePublished - Dec 2011
Externally publishedYes


  • IL25
  • T-cell
  • Th1
  • Th2
  • copy number variation
  • immunodeficiency

ASJC Scopus subject areas

  • Immunology
  • Genetics
  • Genetics(clinical)


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