Article
A patient-based murine model recapitulates human STAT3 gain-of-function syndrome.
Clinical immunology (Orlando, Fla.) - 1 Sept 2024
Meesilpavikkai Kornvalee, Zhou Zijun, Kaikaew Kasiphak, Phakham Suphattra, van der Spek Peter J, Swagemakers Sigrid, Venter Deon J, de Bie Maaike, Schrijver Benjamin, Schliehe Christopher, Kaiser Fabian, Dalm Virgil A S H, van Hagen P Martin, Hirankarn Nattiya, IJspeert Hanna, Dik Willem A
Abstract excerpt
STAT3 gain-of-function (GOF) variants results in a heterogeneous clinical syndrome characterized by early onset immunodeficiency, multi-organ autoimmunity, and lymphoproliferation. While 191 documented cases with STAT3 GOF variants have been reported, the impact of individual variants on immune regulation and the broad clinical spectrum remains unclear. We developed a Stat3p.L387R mouse model, mirroring a variant...
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