Novel TMEM173 Mutation and the Role of Disease-Modifying Alleles
December 2019
in “
Frontiers in immunology
”
alopecia photosensitivity thyroid dysfunction STING protein TMEM173 IFIH1 G207E mutation inflammatory pathways interferon signature inflammasome activation peripheral blood mononuclear cells JAK1/2 inhibitor baricitinib hair regrowth vasculitic ulcer hair loss immune response inflammation PBMCs Jakafi
Studysummary This study identified a novel G207E STING mutation associated with severe inflammatory symptoms and suggested that common polymorphisms in TMEM173 and IFIH1 may modify the phenotype in affected individuals.
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