Mutations in <i>RNU4ATAC</i> Are Associated With Chilblain‐Like Lesions and Enhanced Type I Interferon Signalling
Mutations in the non-coding RNA gene RNU4ATAC are associated with growth restriction and complications related to antibody deficiency. Here, we report that innate immune dysfunction is a previously unrecognised feature of this disorder. In particular, painful chilblain-like lesions are common in RNU4ATAC patients and are linked to dysregulated type I interferon signalling.
Authors
- Nic Robertson (ORCID: https://orcid.org/0000-0002-2941-7526)
- Yanick Joseph Crow (ORCID: https://orcid.org/0000-0001-7211-7564)
- Ina Schim van der Loeff (ORCID: https://orcid.org/0000-0003-1196-6196)
- David I. Campbell (ORCID: https://orcid.org/0000-0003-3432-4372)
- Michael B. Bober (ORCID: https://orcid.org/0000-0002-6178-1264)
- Laura Jones (ORCID: https://orcid.org/0000-0002-6387-7542)
- Sahar Mansour (ORCID: https://orcid.org/0000-0001-6629-4118)
- Lindsay Brown (ORCID: https://orcid.org/0000-0002-2790-5112)
- Andrew P. Jackson (ORCID: https://orcid.org/0000-0002-8739-2646)
- Eleri Williams (ORCID: https://orcid.org/0000-0001-5898-993X)
- Mary Brennan (ORCID: https://orcid.org/0000-0002-1775-9959)
- Gillian Rice (ORCID: https://orcid.org/0000-0002-4223-0571)
- Angela L. Duker (ORCID: https://orcid.org/0000-0002-2204-4659)
- David Royan
- Francesca Ritchie
- A. J. Joshi (ORCID: https://orcid.org/0009-0006-3114-6442)
Institutions
- Inserm (FR)
- St George's, University of London (GB)
- Université Paris Cité (FR)
- Manchester Academic Health Science Centre (GB)
- Royal Hospital for Children (GB)
- Epsom and St Helier University Hospitals NHS Trust (GB)
- University of Manchester (GB)
- Great North Children's Hospital (GB)
- Genomics (United Kingdom) (GB)
- Institute of Genetics and Cancer (GB)
- Institut des Maladies Génétiques Imagine (FR)
- City St George's, University of London (GB)
- University of Edinburgh (GB)
Publication Details
- Journal
- European Journal of Immunology
- Published
- 2025-05-01
- DOI
- https://doi.org/10.1002/eji.202451518
- Citations
- 2
- Primary Topic
- Dermatological and COVID-19 studies
- Type
- article
- Field-Weighted Citation Impact
- 4.01
Funders
- NHS Education for Scotland
- Chief Scientist Office
- Medical Research Council
- European Research Council