Gain-of-function STAT1 mutations are associated with PD-L1 overexpression and a defect in B-cell survival

J Allergy Clin Immunol. 2013 Jun;131(6):1691-3. doi: 10.1016/j.jaci.2013.01.004. Epub 2013 Feb 10.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • B-Lymphocytes / immunology*
  • B-Lymphocytes / metabolism*
  • B7-H1 Antigen / genetics*
  • Base Sequence
  • Cell Survival / genetics
  • Female
  • Gene Expression*
  • Heterozygote
  • Humans
  • Middle Aged
  • Mutation*
  • Pedigree
  • STAT1 Transcription Factor / genetics*

Substances

  • B7-H1 Antigen
  • STAT1 Transcription Factor