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Journal of Clinical Immunology

, Volume 39, Issue 6, pp 620–622 | Cite as

RNASEH2B Related Adult-Onset Interferonopathy

  • Tracy A. BriggsEmail author
  • Anindita Paul
  • Gillian Rice
  • Ariane L. Herrick
Letter to Editor
  • 33 Downloads

To the Editor,

At least 18 different single-gene disorders have been described associated with elevated levels of type I interferon. These “type I interferonopathies” typically result in severe pediatric disorders, including STING-associated vasculopathy of infancy (SAVI) caused by gain of function mutations in TMEM173, spondyloenchondropdysplasia (SPENCD) caused by biallelic ACP5 mutations, and Aicardi-Goutières syndrome (AGS) caused by mutations in one of seven different genes: TREX1, RNASEH2A, RNASEH2B, RNASEH2C, ADAR1, SAMHD1, or IFIH1 [1]. AGS is the most commonly recognized interferonopathy and in over 90% of cases presents within the first year of life with neurological impairment associated with intracranial calcification and leukodystrophy, and in around a third of cases acral chilblains develop [2]. The type I interferonopathies occur due to aberrant metabolism of nucleic acids/dysregulation of the interferon pathway, resulting in induction of type I interferon and...

Notes

Funding

This report presents independent research funded by the National Institute for Health Research (NIHR) (NIHR Transitional Research Fellowship, Dr. Tracy Briggs, TRF-2016-09-002) and supported by the NIHR Manchester Biomedical Research Centre.

Compliance with Ethical Standards

With research consent (REC reference 17/SC/0026). The views expressed are those of the authors and not necessarily those of the NHS, the NIHR, or the Department of Health.

Key message

Type I interferonopathies, including RNASEH2B mutations, should be considered in adults with severe digital ischemia.

Conflict of Interest

The authors declare that they have no conflict of interest.

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  • Tracy A. Briggs
    • 1
    • 2
    Email author
  • Anindita Paul
    • 3
  • Gillian Rice
    • 1
  • Ariane L. Herrick
    • 4
    • 5
  1. 1.Division of Evolution and Genomic Sciences, School of Biological SciencesUniversity of ManchesterManchesterUK
  2. 2.Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester Academic Health Sciences CentreManchester University Hospitals NHS Foundation TrustManchesterUK
  3. 3.Department of RheumatologyBolton NHS Foundation TrustBoltonUK
  4. 4.Division of Musculoskeletal and Dermatological Sciences, Faculty of Biology, Medicine and HealthThe University of ManchesterManchesterUK
  5. 5.Salford Royal NHS Foundation TrustManchester Academic Health Science CentreManchesterUK

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