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 earlyonset autoimmunity.
Original language | English |
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Article number | e20240980 |
Journal | Journal of Experimental Medicine |
Volume | 221 |
Issue number | 9 |
DOIs | |
State | Published - Sep 2 2024 |