Characterization of Novel TMEM173 Mutation Causing a Lupus- and SAVI-Like Phenotype, Modified by Polymorphisms in TMEM173 and IFIH1
September 2019
in “
The journal of investigative dermatology/Journal of investigative dermatology
”
New to Baricitinib? There is a guide in the encyclopedia. Read the guide → Studysummary This study identified a novel G207E STING mutation causing a distinct phenotype involving alopecia, photosensitivity, and thyroid dysfunction, and suggests that common polymorphisms in TMEM173 and IFIH1 may influence disease presentation.
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Researchers identified a novel G207E mutation in the TMEM173 gene, which caused a unique phenotype with symptoms such as alopecia, photosensitivity, thyroid dysfunction, and features of STING-associated vasculopathy with onset in infancy (SAVI). This mutation led to constitutive activation of inflammation-related pathways and aberrant interferon signature in patient cells. The study also found that common polymorphisms in TMEM173 and IFIH1 genes modified the disease presentation. The index patient showed clinical improvement with the JAK inhibitor baricitinib, highlighting the potential for targeted therapy.
