Mutations in pyrin masquerading as a primary immunodeficiency

Clin Immunol. 2016 Oct:171:65-66. doi: 10.1016/j.clim.2016.08.016. Epub 2016 Aug 15.

Abstract

Whole exome sequencing is increasingly used in the diagnosis of primary immunodeficiencies due to the overlapping and atypical presentations of these disorders. We report two patients who presented with recurrent infections and early onset colitis. They were investigated by whole exome sequencing due to suspicion of primary immunodeficiency and found to have mutations in pyrin known to cause familial Mediterranean fever.

Keywords: Familial Mediterranean fever; Primary immunodeficiency; Pyrin; Whole exome sequencing.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child, Preschool
  • Colitis / diagnosis
  • Colitis / genetics*
  • Consanguinity
  • Diagnosis, Differential
  • Familial Mediterranean Fever / diagnosis
  • Familial Mediterranean Fever / genetics*
  • Female
  • Humans
  • Immunologic Deficiency Syndromes / diagnosis
  • Immunologic Deficiency Syndromes / genetics*
  • Infant
  • Male
  • Mutation
  • Pyrin / genetics*

Substances

  • Pyrin