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PTPN2 deficiency: Amping up JAK/STAT.
- Source :
-
The Journal of experimental medicine [J Exp Med] 2024 Sep 02; Vol. 221 (9). Date of Electronic Publication: 2024 Jul 19. - Publication Year :
- 2024
-
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.<br /> (© 2024 Tobin and Cooper.)
- Subjects :
- Humans
Autoimmunity
Germ-Line Mutation
Protein Tyrosine Phosphatase, Non-Receptor Type 2 genetics
Protein Tyrosine Phosphatase, Non-Receptor Type 2 metabolism
Signal Transduction
STAT Transcription Factors metabolism
STAT Transcription Factors genetics
Janus Kinases metabolism
Janus Kinases genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1540-9538
- Volume :
- 221
- Issue :
- 9
- Database :
- MEDLINE
- Journal :
- The Journal of experimental medicine
- Publication Type :
- Academic Journal
- Accession number :
- 39028870
- Full Text :
- https://doi.org/10.1084/jem.20240980