Practical challenges for functional validation of STAT1 gain of function genetic variants

Clin Exp Immunol. 2023 Apr 25;212(2):166-169. doi: 10.1093/cei/uxad008.
No abstract available

Keywords: STAT1; chronic mucocutaneous candidiasis; flow cytometry; gain of function; primary immunodeficiency; variants of unknown significance.

Publication types

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

MeSH terms

  • Candidiasis, Chronic Mucocutaneous* / genetics
  • Gain of Function Mutation*
  • Humans
  • Mutation
  • STAT1 Transcription Factor / genetics
  • STAT1 Transcription Factor / metabolism

Substances

  • STAT1 Transcription Factor
  • STAT1 protein, human