Somatic NOD2 mosaicism in Blau syndrome

J Allergy Clin Immunol. 2015 Aug;136(2):484-7.e2. doi: 10.1016/j.jaci.2014.12.1941. Epub 2015 Feb 25.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Arthritis
  • Cranial Nerve Diseases / diagnosis
  • Cranial Nerve Diseases / genetics*
  • Cranial Nerve Diseases / pathology
  • Exons
  • Female
  • Gene Expression
  • Humans
  • Mosaicism*
  • Mutation*
  • Nod2 Signaling Adaptor Protein / genetics*
  • Pedigree
  • Sarcoidosis
  • Synovitis / diagnosis
  • Synovitis / genetics*
  • Synovitis / pathology
  • Uveitis / diagnosis
  • Uveitis / genetics*
  • Uveitis / pathology

Substances

  • NOD2 protein, human
  • Nod2 Signaling Adaptor Protein

Supplementary concepts

  • Blau syndrome