Robertson, N; Joshi, A; Ritchie, F; Schim van der Loeff, I; Royan, D; Duker, AL; Rice, GI; Bober, MB; Mansour, S; Campbell, DI; et al. Robertson, N; Joshi, A; Ritchie, F; Schim van der Loeff, I; Royan, D; Duker, AL; Rice, GI; Bober, MB; Mansour, S; Campbell, DI; Brennan, M; Brown, L; Jones, L; Williams, E; Jackson, AP; Crow, YJ (2025) Mutations in RNU4ATAC Are Associated With Chilblain‐Like Lesions and Enhanced Type I Interferon Signalling. European Journal of Immunology, 55 (5). e202451518. ISSN 0014-2980 https://doi.org/10.1002/eji.202451518
SGUL Authors: Mansour, Sahar

	PDF Published Version Available under License Creative Commons Attribution. Download (2MB)
	PDF (Supporting Information) Supporting information Download (2MB)

Item Type:	Article
Additional Information:	© 2025 The Author(s). European Journal of Immunology published by Wiley-VCH GmbH This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any (http://creativecommons.org/licenses/by/4.0/) medium, provided the original work is properly cited.
Keywords:	interferonopathy, primordial dwarfism, RNU4ATAC-opathy, Roifman syndrome
SGUL Research Institute / Research Centre:	Academic Structure > Cardiovascular & Genomics Research Institute Academic Structure > Cardiovascular & Genomics Research Institute > Genomics
Journal or Publication Title:	European Journal of Immunology
ISSN:	0014-2980
Language:	en
Publisher License:	Creative Commons: Attribution 4.0
Projects:	Project ID Funder Funder ID PCL2307 Scottish Government Chief Scientific Officer UNSPECIFIED PCL2307 NHS Education for Scotland https://doi.org/10.13039/100010525 UNSPECIFIED Potentials Foundation UNSPECIFIED UNSPECIFIED Walking with Giants Foundation UNSPECIFIED 788093 Horizon 2020 https://doi.org/10.13039/501100007601 MC_UU_00007/5 Medical Research Council http://dx.doi.org/10.13039/501100000265 786142 E-T1IFNs European Research Council http://dx.doi.org/10.13039/501100000781 MC_UU_00035/11 Medical Research Council http://dx.doi.org/10.13039/501100000265
URI:	https://openaccess.sgul.ac.uk/id/eprint/117727
Publisher's version:	https://doi.org/10.1002/eji.202451518

Actions (login required)

Edit Item