A novel mutation in NCF2 associated with autoimmune disease and a solitary late-onset infection

Clin Immunol. 2015 Dec;161(2):128-30. doi: 10.1016/j.clim.2015.08.003. Epub 2015 Aug 10.

Abstract

Chronic granulomatous disease (CGD) is typically characterized by recurrent infections, granulomatous disease, and an increased susceptibility to autoimmune disease. We report a novel homozygous mutation in NCF2 that permits residual expression of an alternatively spliced variant in a patient with duodenitis and systemic lupus erythematosus (SLE), followed by a late-onset, single pulmonary infection in the setting of immunosuppressive medications. This report highlights the importance of considering CGD in patients who present initially exclusively with autoimmune disease.

Keywords: Chronic granulomatous disease; NCF2; Systemic lupus erythematosus; Whole exome sequencing.

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Autoimmune Diseases / genetics*
  • Child
  • Female
  • Granulomatous Disease, Chronic / genetics
  • Homozygote
  • Humans
  • Lung Diseases / genetics
  • Lupus Erythematosus, Systemic / genetics
  • Mutation / genetics*
  • NADPH Oxidases / genetics*

Substances

  • NADPH Oxidases
  • NCF2 protein, human