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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.

This study reports that a novel gain-of-function mutation in TMEM173, combined with polymorphisms in TMEM173 and IFIH1, results in a distinct clinical phenotype with features of SAVI, including alopecia and photosensitivity.

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.

This study found that human TMEM2 does not function as a hyaluronidase but is involved in regulating hyaluronan metabolism.