Page 107 - GPD-4-3

Gene & Protein in Disease Monogenic lupus and interferonopathies

Acknowledgments 2021;17(10):585-595.

None. doi: 10.1038/s41584-021-00652-9
4. Manthiram K, Zhou Q, Aksentijevich I, Kastner DL. The
Funding monogenic autoinflammatory diseases define new pathways
None. in human innate immunity and inflammation. Nat Immunol.
2017;18(8):832-842.
Conflict of interest doi: 10.1038/ni.3777

The authors declare that they have no competing interests. 5. Lucherini OM, Rigante D, Sota J, et al. Updated overview
of molecular pathways involved in the most common
Author contributions monogenic autoinflammatory diseases. Clin Exp Rheumatol.
Conceptualization: All authors 2018 Jan-Feb;36 Suppl 110(1):3-9.
Investigation: All authors 6. Başaran Ö, Bilginer Y, Özen S. Rare autoinflammatory
Methodology: Sulaiman M. Al-Mayouf diseases. Turk Arch Pediatr. 2022;57(1):18-25.
Writing – original draft: Sulaiman M. Al-Mayouf doi: 10.5152/Turk Arch Pediatr.2022.21303
Writing – review & editing: All authors
7. Mendonça LO, Frémond ML. Interferonopathies: From
Ethics approval and consent to participate concept to clinical practice. Best Pract Res Clin Rheumatol.
2024;38:101975.
This study adheres to the ethical principles outlined in doi: 10.1016/j.berh.2024.101975
the Declaration of Helsinki (2000); the Research Advisory
Council guidelines of King Faisal Specialist Hospital and 8. Lo MS. Concepts in lupus pathophysiology: Lessons
Research Center, Riyadh; and the Saudi Arabian legislation. learned from disease across the spectrum. Clin Immunol.
This work was conducted as part of a previously approved 2022;238:109021.
study (study number 2221105). All clinical and laboratory doi: 10.1016/j.clim.2022.109021
assessments were performed as part of the standard 9. Catalina MD, Owen KA, Labonte AC, Grammer AC,
medical care. Informed consent for genetic testing was Lipsky PE. The pathogenesis of systemic lupus erythematosus:
obtained from the parents during blood extraction, as part Harnessing big data to understand the molecular basis of
of patient care. All collected data were examined under lupus. J Autoimmun. 2020;110:102359.
confidentiality practices, ensuring no personal information doi: 10.1016/j.jaut.2019.102359
was disclosed.
10. Adams DE, Shao WH. Epigenetic alterations in immune
Consent for publication cells of systemic lupus erythematosus and therapeutic
implications. Cells. 2022;11(3):506.
Verbal consent was obtained from each patient’s parents
for publication of their data and/or images. doi: 10.3390/cells11030506
11. Araki Y, Mimura T. Epigenetic dysregulation in the
Availability of data pathogenesis of systemic lupus erythematosus. Int J Mol Sci.

Data are available from the corresponding author upon 2024;25(2):1019.
reasonable request. doi: 10.3390/ijms25021019

References 12. Alperin JM, Ortiz-Fernández L, Sawalha AH. Monogenic
lupus: A developing paradigm of disease. Front Immunol.
1. Hedrich CM. Shaping the spectrum-from autoinflammation 2018;9:2496.
to autoimmunity. Clin Immunol. 2016;165:21-28.
doi: 10.3389/fimmu.2018.02496
doi: 10.1016/j.clim.2016.03.002
13. Omarjee O, Picard C, Frachette C, et al. Monogenic
2. Arakelyan A, Nersisyan L, Poghosyan D, et al. Autoimmunity lupus: Dissecting heterogeneity. Autoimmun Rev.
and autoinflammation: A systems view on signaling pathway 2019;18(10):102361.
dysregulation profiles. PLoS One. 2017;12(11):e0187572.
doi: 10.1016/j.autrev.2019.102361
doi: 10.1371/journal.pone.0187572
14. Demirkaya E, Sahin S, Romano M, Zhou Q, Aksentijevich I.
3. Szekanecz Z, McInnes IB, Schett G, Szamosi S, Benkő S, New horizons in the genetic etiology of systemic lupus
Szűcs G. Autoinflammation and autoimmunity across erythematosus and lupus-like disease: Monogenic lupus and
rheumatic and musculoskeletal diseases. Nat Rev Rheumatol. beyond. J Clin Med. 2020;9(3):712.

Volume 4 Issue 3 (2025) 5 doi: 10.36922/GPD025080019