Page 108 - GPD-4-3

Gene & Protein in Disease Monogenic lupus and interferonopathies

doi: 10.3390/jcm9030712 Rheumatol Online J. 2016;14(1):35.
15. Al-Mayouf SM, Akbar L, Abdwani R, et al. Performance of doi: 10.1186/s12969-016-0094-4
the EULAR/ACR 2019 classification criteria for systemic
lupus erythematous in monogenic lupus. Clin Rheumatol. 24. Rodero MP, Tesser A, Bartok E, et al. Type I interferon-
2022;41(9):2721-2727. mediated autoinflammation due to DNase II deficiency. Nat
Commun. 2017;8(1):2176.
doi: 10.1007/s10067-022-06209-9
doi: 10.1038/s41467-017-01932-3
16. Tusseau M, Khaldi-Plassart S, Cognard J, et al. Mendelian
causes of autoimmunity: The lupus phenotype. J Clin 25. Bai Y, Tong Y, Liu Y, Hu H. Self-dsDNA in the pathogenesis
Immunol. 2024;44(4):99. of systemic lupus erythematosus. Clin Exp Immunol.
2018;191(1):1-10.
doi: 10.1007/s10875-024-01696-8
doi: 10.1111/cei.13041
17. Al-Mayouf SM, Akbar L, AlEnazi A, Al-Mousa H. Autosomal
recessive ISG15 deficiency underlies type I interferonopathy 26. Qin Y, Ma J, Vinuesa CG. Monogenic lupus: Insights into
with systemic lupus erythematosus and inflammatory disease pathogenesis and therapeutic opportunities. Curr
myositis. J Clin Immunol. 2021;41(6):1361-1364. Opin Rheumatol. 2024;36(3):191-200.
doi: 10.1007/s10875-021-01019-1 doi: 10.1097/BOR.0000000000001008.
18. Al-Mayouf SM, Alkhars F, AlSaleem A. Phenotype and 27. Murdaca G, Colombo BM, Puppo F. The role of Th17
disease course differences in monogenic and sporadic lymphocytes in the autoimmune and chronic inflammatory
childhood lupus. Lupus. 2023;32(13):1548-1554. diseases. Intern Emerg Med. 2011;6(6):487-495.
doi: 10.1177/09612033231211065 doi: 10.1007/s11739-011-0517-7
19. Tirosh I, Spielman S, Barel O, et al. Whole exome sequencing 28. Contini P, Murdaca G, Puppo F, Negrini S. HLA-G expressing
in childhood-onset lupus frequently detects single gene immune cells in immune mediated diseases. Front Immunol.
etiologies. Pediatr Rheumatol Online J. 2019;17(1):52. 2020;11:1613.
doi: 10.1186/s12969-019-0349-y doi: 10.3389/fimmu.2020.01613
20. Misztal MC, Liao F, Couse M, et al. Genome-wide 29. Wilkinson C, Henderson RB, Jones-Leone AR, et al. The
sequencing identified rare genetic variants for childhood- role of baseline BLyS levels and type 1 interferon-inducible
onset monogenic lupus. J Rheumatol. 2023;50(5):671-675. gene signature status in determining belimumab response
doi: 10.3899/jrheum.220513 in systemic lupus erythematosus: A post hoc meta-analysis.
Arthritis Res Ther. 2020;22(1):102.
21. Kim H, Sanchez GA, Goldbach-Mansky R. Insights from
Mendelian interferonopathies: Comparison of CANDLE, doi: 10.1186/s13075-020-02177-0
SAVI with AGS, monogenic lupus. J Mol Med (Berl). 30. Mohan S. Targeted treatment of diseases of immune
2016;94(10):1111-1127. dysregulation. Rheum Dis Clin North Am. 2023;49(4):
doi: 10.1007/s00109-016-1465-5 913-929.
22. Gagne S, Sivaraman V, Akoghlanian S. Interferonopathies doi: 10.1016/j.rdc.2023.07.002
masquerading as non-Mendelian autoimmune diseases: 31. Furie RA, Morand EF, Bruce IN, et al. TULIP-1 study
Pattern recognition for early diagnosis. Front Pediatr. investigators. Type I interferon inhibitor anifrolumab
2023;11:1169638. in active systemic lupus erythematosus (TULIP-1):
doi: 10.3389/fped.2023.1169638 A randomised, controlled, phase 3 trial. Lancet Rheumatol.
2019;1(4):e208-e219.
23. Volpi S, Picco P, Caorsi R, Candotti F, Gattorno M. Type I
interferonopathies in pediatric rheumatology. Pediatr doi: 10.1016/S2665-9913(19)30076-1

Volume 4 Issue 3 (2025) 6 doi: 10.36922/GPD025080019