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An additional site mutation in MITA/STING gain-of-function mutants abolishes the autoimmune SAVI phenotypes and directs a therapeutic strategy

2026-01-04

Abstract excerpt

STING-associated vasculopathy with onset in infancy (SAVI) is an autoimmune disease caused by gain-of-function mutations (GOFs) of MITA/STING and the most frequent GOFs for SAVI are MITA N154S and MITA V155M . However, how MITA GOFs are spontaneously activated remains incompletely understood. Here, we show that the activity of MITA hinge-region GOFs is compromised by an additional mutation at Lys150 and that the...

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Literature Corpus work
7b4d437e-29a5-59e4-83b6-31ec3b6c6cff
DOI
10.64898/2026.01.03.697515
Open publication

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An additional site mutation in MITA/STING gain-of-function mutants abolishes the autoimmune SAVI phenotypes and directs a therapeutic strategyDOI 10.64898/2026.01.03.697515
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