Limited role of interferon-kappa (IFNK) truncating mutations in common variable immunodeficiency

Cytokine. 2017 Aug;96:71-74. doi: 10.1016/j.cyto.2017.03.005. Epub 2017 Mar 19.


We used whole exome sequencing to determine the genetic background of CVID in two non-consanguineous German families. We identified IFNK (interferon-kappa) as the only candidate gene that harbored truncating mutations in affected members from both families. One family segregated c.30_31insTGTT, a known frameshift variant, while the other family segregated the novel IFNK mutation p.K199X that creates a premature stop codon. We sequenced the whole coding region of IFNK in a further series of 167 CVID patients and 192 healthy controls. Frameshift mutation c.30_31insTGTT was identified in 12 cases and 17 controls (OR 0.79, 95% CI 0.33-1.81, p=0.79), whereas the p.K199X mutation remained restricted to the original family. No additional truncating variants were found. We conclude that, given their frequent occurrence in non-diseased family members and controls, it is unlikely that truncating variants in IFNK constitute a major factor in the development of CVID.

Keywords: Common variable immunodeficiency (CVID); Interferon kappa gene (IFNK); Whole exome sequencing.

MeSH terms

  • Adult
  • Aged
  • Common Variable Immunodeficiency / congenital
  • Common Variable Immunodeficiency / genetics*
  • Common Variable Immunodeficiency / immunology*
  • Female
  • Frameshift Mutation*
  • Genome, Human
  • Germany
  • Humans
  • Interferon Type I / genetics*
  • Male
  • Middle Aged
  • Mutation
  • Sequence Analysis, DNA
  • Whole Exome Sequencing


  • Interferon Type I
  • interferon kappa