Page 72 - GPD-4-2

Gene & Protein in Disease X chromosome in sex-biased autoimmunity

Demethylation of CD40LG on the inactive X in T cells from and MDA5 in interferon-positive and interferon-negative
women with lupus. J Immunol. 2007;179(9):6352-6358. patients with primary Sjogren’s syndrome. Ann Rheum Dis.
2017;76(4):721-730.
doi: 10.4049/jimmunol.179.9.6352
doi: 10.1136/annrheumdis-2016-209589
94. Lambert NC. Nonendocrine mechanisms of sex bias in
rheumatic diseases. Nat Rev Rheumatol. 2019;15(11):673-686. 105. Cancro MP. Age-associated B cells. Annu Rev Immunol.
2020;38:315-340.
doi: 10.1038/s41584-019-0307-6
doi: 10.1146/annurev-immunol-092419-031130
95. Diebold SS, Kaisho T, Hemmi H, Akira S, Reis e
Sousa C. Innate antiviral responses by means of TLR7- 106. Alexopoulou L. Nucleic acid-sensing toll-like receptors:
mediated recognition of single-stranded RNA. Science. Important players in Sjogren’s syndrome. Front Immunol.
2004;303(5663):1529-1531. 2022;13:980400.
doi: 10.1126/science.1093616 doi: 10.3389/fimmu.2022.980400
96. Pisitkun P, Deane JA, Difilippantonio MJ, Tarasenko T, 107. Odhams CA, Roberts AL, Vester SK, et al. Interferon
Satterthwaite AB, Bolland S. Autoreactive B cell responses inducible X-linked gene CXorf21 may contribute to sexual
to RNA-related antigens due to TLR7 gene duplication. dimorphism in systemic lupus erythematosus. Nat Commun.
Science. 2006;312(5780):1669-1672. 2019;10(1):2164.
doi: 10.1126/science.1124978 doi: 10.1038/s41467-019-10106-2
97. Deane JA, Pisitkun P, Barrett RS, et al. Control of toll-like 108. Bentham J, Morris DL, Graham DSC, et al. Genetic
receptor 7 expression is essential to restrict autoimmunity and association analyses implicate aberrant regulation of innate
dendritic cell proliferation. Immunity. 2007;27(5):801-810. and adaptive immunity genes in the pathogenesis of systemic
lupus erythematosus. Nat Genet. 2015;47(12):1457-1464.
doi: 10.1016/j.immuni.2007.09.009
doi: 10.1038/ng.3434
98. Brown GJ, Canete PF, Wang H, et al. TLR7 gain-of-
function genetic variation causes human lupus. Nature. 109. Mackay M, Oswald M, Sanchez-Guerrero J, et al. Molecular
2022;605(7909):349-356. signatures in systemic lupus erythematosus: Distinction
between disease flare and infection. Lupus Sci Med.
doi: 10.1038/s41586-022-04642-z
2016;3(1):e000159.
99. Mishra H, Schlack-Leigers C, Lim EL, et al. Disrupted
degradative sorting of TLR7 is associated with human lupus. doi: 10.1136/lupus-2016-000159
Sci Immunol. 2024;9(92):eadi9575. 110. Harris VM, Koelsch KA, Kurien BT, et al. Characterization
of cxorf21 provides molecular insight into female-bias
doi: 10.1126/sciimmunol.adi9575
immune response in SLE pathogenesis. Front Immunol.
100. Souyris M, Cenac C, Azar P, et al. TLR7 escapes X 2019;10:2160.
chromosome inactivation in immune cells. Sci Immunol.
2018;3(19):eaap8855. doi: 10.3389/fimmu.2019.02160
111. Song Y, Zhou W. Role of TLR7 in the pathogenesis of
doi: 10.1126/sciimmunol.aap8855
primary Sjogren’s syndrome. Clin Exp Rheumatol. 2024;
101. Wang Y, Roussel-Queval A, Chasson L, et al. TLR7 signaling 42(12):2513-2519.
drives the development of Sjogren’s syndrome. Front
Immunol. 2021;12:676010. doi: 10.55563/clinexprheumatol/cmmkod
112. Harris VM, Scofield RH, Sivils KL. Genetics in Sjogren’s
doi: 10.3389/fimmu.2021.676010
syndrome: Where we are and where we go. Clin Exp
102. Karlsen M, Jakobsen K, Jonsson R, Hammenfors D, Rheumatol. 2019;118(3, 37 Suppl):234-239.
Hansen T, Appel S. Expression of toll-like receptors in
peripheral blood mononuclear cells of patients with primary 113. Martin MU, Wesche H. Summary and comparison of the
Sjogren’s syndrome. Scand J Immunol. 2017;85(3):220-226. signaling mechanisms of the toll/interleukin-1 receptor
family. Biochim Biophys Acta. 2002;1592(3):265-280.
doi: 10.1111/sji.12520
doi: 10.1016/s0167-4889(02)00320-8
103. Zheng L, Zhang Z, Yu C, Yang C. Expression of toll-like
receptors 7, 8, and 9 in primary Sjogren’s syndrome. Oral Surg 114. Gottipati S, Rao NL, Fung-Leung WP. IRAK1: A critical
Oral Med Oral Pathol Oral Radiol Endod. 2010;109(6):844-850. signaling mediator of innate immunity. Cell Signal.
2008;20(2):269-276.
doi: 10.1016/j.tripleo.2010.01.006
doi: 10.1016/j.cellsig.2007.08.009
104. Maria NI, Steenwijk EC, IJpma AS, et al. Contrasting
expression pattern of RNA-sensing receptors TLR7, RIG-I 115. Jacob CO, Zhu J, Armstrong DL, et al. Identification of
IRAK1 as a risk gene with critical role in the pathogenesis

Volume 4 Issue 2 (2025) 12 doi: 10.36922/gpd.8321