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We read with interest the paper by Konig et al1 describing a novel pathogenic mutation in TMEM173. This report is important in highlighting the stable segregation of a skin-restricted phenotype across four generations, thus expanding the clinical spectrum associated with gain-of-function mutations in stimulator of interferon genes (STING). These authors also report the use of the Janus kinase (JAK)1/3 inhibitor tofacitinib in two of their patients. Unfortunately, since the treatment period was limited to a total of 17 days, it was not possible to draw any conclusions as to therapeutic efficacy. However, we have recently described the use of an alternative JAK(1/2) inhibitor, ruxolitinib, in three STING-mutated patients treated for a period of up to 18 months.2 Importantly, in this study, we observed a marked improvement in all three major …
Competing interests None declared.
Provenance and peer review Not commissioned; internally peer reviewed.
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