Inherited or de novo mutation affecting aspartate 18 of TREX1 results in either familial chilblain lupus or Aicardi-Goutières syndrome

Br J Dermatol. 2012 Jul;167(1):212-4. doi: 10.1111/j.1365-2133.2012.10813.x.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Aspartic Acid / genetics
  • Autoimmune Diseases of the Nervous System / genetics*
  • Chilblains / genetics*
  • Exodeoxyribonucleases / genetics*
  • Heterozygote
  • Humans
  • Lupus Erythematosus, Cutaneous / genetics*
  • Male
  • Mutation / genetics*
  • Nervous System Malformations / genetics*
  • Phosphoproteins / genetics*
  • Syndrome

Substances

  • Phosphoproteins
  • Aspartic Acid
  • Exodeoxyribonucleases
  • three prime repair exonuclease 1

Supplementary concepts

  • Aicardi-Goutieres syndrome
  • Chilblain lupus 1