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JAK inhibition in STING-associated interferonopathy
  1. Mathieu P Rodero1,
  2. Marie-Louise Frémond1,
  3. Gillian I Rice2,
  4. Bénédicte Neven3,4,5,
  5. Yanick J Crow1,2
  1. 1Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR1163, Institut Imagine, Paris, France
  2. 2Manchester Centre for Genomic Medicine, University of Manchester, Manchester, UK
  3. 3Pediatric Immunology-Hematology and Rheumatology Unit, Necker-Enfants Malades Hospital, Assistance Publique-H?pitaux de Paris, Paris, France
  4. 4INSERM UMR 1163, Immunogenetics of Pediatric Autoimmunity, Paris, France
  5. 5Paris Descartes-Sorbonne Paris Cite University, Institute Imagine, Paris, France
  1. Correspondence to Institut Imagine, 24 boulevard du Montparnasse, Paris, 75105, France; yanickcrow{at}

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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 …

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  • Competing interests None declared.

  • Provenance and peer review Not commissioned; internally peer reviewed.

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