AccScience Publishing / GPD / Online First / DOI: 10.36922/GPD025080019
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SHORT COMMUNICATION

Interferonopathies at the crossroads of monogenic lupus and autoinflammation: A case study

Sulaiman M. Al-Mayouf1,2* ,  Alhanouf Alsaleem1
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1 Department of Pediatric Rheumatology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
2 Department of Pediatrics, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia
GPD, 025080019 https://doi.org/10.36922/GPD025080019
Received: 23 February 2025 | Revised: 5 June 2025 | Accepted: 16 June 2025 | Published online: 17 July 2025
© 2025 by the Author(s). This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution 4.0 International License ( https://creativecommons.org/licenses/by/4.0/ )
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Abstract

Monogenic lupus is a highly complex condition with marked variability, resulting from diverse immune system etiopathogenesis linked to various pathogenic genetic variants. There is substantial overlap with newly described systemic autoinflammatory disorders. We present two cases of monogenic lupus and highlight the intersection between monogenic lupus and autoinflammatory disorders. This report emphasizes the concept of monogenic interferonopathies as an umbrella term for various conditions arising from genetic aberrations in type I interferon (IFN-I) signaling, which are associated with significant IFN-I activation.

Keywords
Monogenic lupus
Systemic lupus erythematosus
Type I interferon
Interferonopathies
Funding
None.
Conflict of interest
The authors declare that they have no competing interests.
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Gene & Protein in Disease, Electronic ISSN: 2811-003X Published by AccScience Publishing
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