Severe chilblain lupus is associated with heterozygous missense mutations of catalytic amino acids or their adjacent mutations in the exonuclease domains of 3'-repair exonuclease 1

J Invest Dermatol. 2012 Dec;132(12):2855-7. doi: 10.1038/jid.2012.210. Epub 2012 Jun 21.
No abstract available

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Amino Acids / genetics
  • Chilblains / genetics*
  • Chilblains / pathology
  • Exodeoxyribonucleases / chemistry
  • Exodeoxyribonucleases / genetics*
  • Female
  • Heterozygote
  • Humans
  • Lupus Erythematosus, Cutaneous / genetics*
  • Lupus Erythematosus, Cutaneous / pathology
  • Middle Aged
  • Molecular Sequence Data
  • Mutation, Missense / genetics*
  • Phosphoproteins / chemistry
  • Phosphoproteins / genetics*
  • Protein Structure, Tertiary / genetics
  • Severity of Illness Index

Substances

  • Amino Acids
  • Phosphoproteins
  • Exodeoxyribonucleases
  • three prime repair exonuclease 1

Supplementary concepts

  • Chilblain lupus 1