Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus

Rheumatology (Oxford). 2013 Feb;52(2):406-8. doi: 10.1093/rheumatology/kes181. Epub 2012 Jul 23.
No abstract available

Publication types

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

MeSH terms

  • Autoimmune Diseases of the Nervous System / diagnosis
  • Autoimmune Diseases of the Nervous System / etiology
  • Autoimmune Diseases of the Nervous System / genetics*
  • Chilblains / complications
  • Chilblains / genetics*
  • Child
  • Exodeoxyribonucleases / genetics*
  • Female
  • Humans
  • Lupus Erythematosus, Cutaneous / complications
  • Lupus Erythematosus, Cutaneous / genetics*
  • Mutation / genetics
  • Nervous System Malformations / diagnosis
  • Nervous System Malformations / etiology
  • Nervous System Malformations / genetics*
  • Pedigree
  • Phosphoproteins / genetics*
  • Tomography, X-Ray Computed

Substances

  • Phosphoproteins
  • Exodeoxyribonucleases
  • three prime repair exonuclease 1

Supplementary concepts

  • Aicardi-Goutieres syndrome
  • Chilblain lupus 1