PTPN2 deficiency: Amping up JAK/STAT.
Joshua M TobinMegan Anne CooperPublished in: The Journal of experimental medicine (2024)
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.
Keyphrases
- induced pluripotent stem cells
- early onset
- immune response
- copy number
- late onset
- signaling pathway
- celiac disease
- genome wide
- transcription factor
- dendritic cells
- toll like receptor
- epithelial mesenchymal transition
- gene expression
- endothelial cells
- bioinformatics analysis
- cell proliferation
- pluripotent stem cells