Vibratory Urticaria Associated with a Missense Variant in ADGRE2

N Engl J Med. 2016 Feb 18;374(7):656-63. doi: 10.1056/NEJMoa1500611. Epub 2016 Feb 3.

Abstract

Patients with autosomal dominant vibratory urticaria have localized hives and systemic manifestations in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum. We identified a previously unknown missense substitution in ADGRE2 (also known as EMR2), which was predicted to result in the replacement of cysteine with tyrosine at amino acid position 492 (p.C492Y), as the only nonsynonymous variant cosegregating with vibratory urticaria in two large kindreds. The ADGRE2 receptor undergoes autocatalytic cleavage, producing an extracellular subunit that noncovalently binds a transmembrane subunit. We showed that the variant probably destabilizes an autoinhibitory subunit interaction, sensitizing mast cells to IgE-independent vibration-induced degranulation. (Funded by the National Institutes of Health.).

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, N.I.H., Intramural

MeSH terms

  • Biopsy
  • Cell Degranulation / genetics
  • Female
  • Histamine / blood
  • Humans
  • Lebanon
  • Male
  • Mast Cells / physiology
  • Middle Aged
  • Mutation, Missense*
  • Pedigree
  • Receptors, G-Protein-Coupled / genetics*
  • Receptors, G-Protein-Coupled / metabolism
  • Skin / pathology
  • Urticaria / blood
  • Urticaria / etiology
  • Urticaria / genetics*
  • Vibration / adverse effects*

Substances

  • ADGRE2 protein, human
  • Receptors, G-Protein-Coupled
  • Histamine