Characterization of Novel TMEM173 Mutation Causing a Lupus- and SAVI-Like Phenotype, Modified by Polymorphisms in TMEM173 and IFIH1

    September 2019 in “ ˜The œjournal of investigative dermatology/Journal of investigative dermatology ”
    Salla Keskitalo, Elena Haapaniemi, Elisabet Einarsdóttir, Kristiina Rajamäki, Janna Saarela, Juha Kere, Mikko Seppänen, Annamari Ranki, Katariina Hannula-Jouppi, Markku Varjosalo
    TLDR A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
    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.
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