LINE-1-Mediated AluYa5 Insertion Underlying Complete Autosomal Recessive IFN-γR1 Deficiency

J Clin Immunol. 2019 Oct;39(7):739-742. doi: 10.1007/s10875-019-00667-8. Epub 2019 Aug 3.
No abstract available

Publication types

  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alu Elements*
  • Base Sequence
  • DNA Transposable Elements*
  • Exons
  • Female
  • Genes, Recessive*
  • Homozygote
  • Humans
  • Long Interspersed Nucleotide Elements*
  • Male
  • Pedigree
  • Receptors, Interferon / deficiency*

Substances

  • DNA Transposable Elements
  • Receptors, Interferon
  • interferon gamma receptor