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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11259788 | PMC |
| http://dx.doi.org/10.1084/jem.20240980 | DOI Listing |
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