Article
STAT3 gain-of-function mutations connect leukemia with autoimmune disease by pathological NKG2Dhi CD8+ T cell dysregulation and accumulation.
Immunity - 13 Dec 2022
Masle-Farquhar Etienne, Jackson Katherine J L, Peters Timothy J, Al-Eryani Ghamdan, Singh Mandeep, Payne Kathryn J, Rao Geetha, Avery Danielle T, Apps Gabrielle, Kingham Jennifer, Jara Christopher J, Skvortsova Ksenia, Swarbrick Alexander, Ma Cindy S, Suan Daniel, Uzel Gulbu, Chua Ignatius, Leiding Jennifer W, Heiskanen Kaarina, Preece Kahn, Kainulainen Leena, O'Sullivan Michael, Cooper Megan A, Seppänen Mikko R J, Mustjoki Satu, Brothers Shannon, Vogel Tiphanie P, Brink Robert, Tangye Stuart G, Reed Joanne H, Goodnow Christopher C
Abstract excerpt
The association between cancer and autoimmune disease is unexplained, exemplified by T cell large granular lymphocytic leukemia (T-LGL) where gain-of-function (GOF) somatic STAT3 mutations correlate with co-existing autoimmunity. To investigate whether these mutations are the cause or consequence of CD8+ T cell clonal expansions and autoimmunity, we analyzed patients and mice with germline STAT3 GOF mutations....
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