PTPN2 deficiency: Amping up JAK/STAT

J Exp Med. 2024 Sep 2;221(9):e20240980. doi: 10.1084/jem.20240980. Epub 2024 Jul 19.

Abstract

Identification of monogenic causes of immune dysregulation provides insight into human immune response and signaling pathways associated with autoimmunity. Here, Jeanpierre et al. (https://doi.org/10.1084/jem.20232337) identify new germline variants in the gene encoding PTPN2 associated with loss of regulatory function, enhanced JAK/STAT signaling, and early-onset autoimmunity.

Publication types

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

MeSH terms

  • Autoimmunity
  • Germ-Line Mutation
  • Humans
  • Janus Kinases* / genetics
  • Janus Kinases* / metabolism
  • Protein Tyrosine Phosphatase, Non-Receptor Type 2* / genetics
  • Protein Tyrosine Phosphatase, Non-Receptor Type 2* / metabolism
  • STAT Transcription Factors* / genetics
  • STAT Transcription Factors* / metabolism
  • Signal Transduction*

Substances

  • Protein Tyrosine Phosphatase, Non-Receptor Type 2
  • PTPN2 protein, human
  • STAT Transcription Factors
  • Janus Kinases