Large deletion in 6q associated to A20 haploinsufficiency and thoracoabdominal heterotaxy

Ann Rheum Dis. 2018 Nov;77(11):1697-1698. doi: 10.1136/annrheumdis-2018-213300. Epub 2018 Apr 20.
No abstract available

Keywords: fever syndromes; gene polymorphism; inflammation.

Publication types

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

MeSH terms

  • Autoimmunity / genetics
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 6 / genetics*
  • Haploinsufficiency*
  • Hereditary Autoinflammatory Diseases / genetics
  • Heterotaxy Syndrome / genetics*
  • Humans
  • Male
  • Repressor Proteins / genetics
  • Trans-Activators / genetics
  • Tumor Necrosis Factor alpha-Induced Protein 3 / genetics
  • Young Adult

Substances

  • CITED2 protein, human
  • Repressor Proteins
  • Trans-Activators
  • TNFAIP3 protein, human
  • Tumor Necrosis Factor alpha-Induced Protein 3