A germline IκBα mutation outside the signal reception domain blocks nuclear translocation of NFκB1 and associates with autoinflammation-like features
NFKBIA variants not localising to the signal reception domain can affect IκBα function and consequently restrict the canonical activation of NFκB. In contrast to the phenotype of N-terminal variants, which is dominated by combined immunodeficiency, the here-reported C-terminal deletion of IκBα was identified in patients with autoinflammatory arthritis and psoriasis.
Authors
- Natalia Dubrowinskaja
- Ulrich Baumann (ORCID: https://orcid.org/0000-0002-0162-0266)
- Faranaz Atschekzei
- Fabian Hauck (ORCID: https://orcid.org/0000-0001-9644-2003)
- Manfred Anim (ORCID: https://orcid.org/0000-0003-4745-8505)
- Georgios Sogkas (ORCID: https://orcid.org/0000-0003-0855-2945)
- Ignatius Ryan Adriawan
- Abdulwahab Elsayed
- Torsten Witte
Institutions
- Medizinische Hochschule Hannover (DE)
- Ludwig-Maximilians-Universität München (DE)
Publication Details
- Journal
- Annals of the Rheumatic Diseases
- Published
- 2025-09-01
- DOI
- https://doi.org/10.1016/j.ard.2025.08.010
- Primary Topic
- NF-κB Signaling Pathways
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Deutsches Zentrum für Infektionsforschung
- Deutsche Forschungsgemeinschaft