Rare and Novel <scp> <i>RELA</i> </scp> Variants Contribute to Systemic Autoimmunity
We expand upon the clinical syndromes linked to RELA dysfunction and uncover rare/novel variants that have distinct functional effects on gene transcription downstream of NF-κB and IFNβ promoter elements. These findings reinforce an important role for RELA in a range of autoimmune and autoinflammatory diseases.
Authors
- Sonia B. Nambadan
- Morgan B. Downes (ORCID: https://orcid.org/0009-0001-3784-6814)
- Carolyn Hawkins (ORCID: https://orcid.org/0000-0002-6300-3773)
- Giles Walters (ORCID: https://orcid.org/0000-0003-4854-9353)
- Vicki Athanasopoulos (ORCID: https://orcid.org/0000-0002-5764-5948)
- A. Richard Kitching (ORCID: https://orcid.org/0000-0002-2713-2391)
- Simon Jiang (ORCID: https://orcid.org/0000-0002-3973-5114)
- Ted Tsai
- Ainsley R. Davies (ORCID: https://orcid.org/0000-0003-3352-5578)
- T. Daniel Andrews (ORCID: https://orcid.org/0000-0003-3922-6376)
- Gemma Hart
- Chandima Perera
- Nicole Lehmann
- Isabella Bales
- Alamelu Vengatasalam
- Joanne Chow
Institutions
- Australian National University (AU)
- Monash Medical Centre (AU)
- Canberra Hospital (AU)
- Monash University (AU)
Publication Details
- Journal
- Arthritis & Rheumatology
- Published
- 2025-12-26
- DOI
- https://doi.org/10.1002/art.70046
- Primary Topic
- Systemic Lupus Erythematosus Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Australian Cancer Research Foundation
- National Health and Medical Research Council