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Additionally, hypermethylation of the Foxp3 gene promoter in T cells results in reduced Foxp3 expression, impairing Treg cell function and disrupting immune homeostasis, thereby exacerbating MS progression (83, 85)

For the result of PCD prevalence estimation by the Bayesian framework in other gnomAD populations, the prevalence is 1:1,134,461 (95% confidence interval: 1:2,300,3251:650,711) in African American (AFR) population, 1:148,320 (95% confidence interval: 1:314,1551:82,852) in admixed American (AMR) population, 1:921,025 (95% confidence interval: 1:28,837,5931:211,888) in ASJ population, 1:1,964,440 (95% confidence interval: 1:13,880,6671:645,273) in Finnish in Finland (FIN) population, 1:282,613 (95% confidence interval: 1:413,7091:202,688) in NFE population, 1:84,707 (95% confidence interval: 1:404,3291:31,975) in South Asian (SAS) population, and 1:16,375 (95% confidence interval: 1:41,4101:8,272) in East Asian (EAS) population (Figure 3B)

We acknowledge Dr Annie Castonguay for her advice and assistance regarding use of CLP257, Sylvain Ct for assistance in graphical design and advices, Manon St-Louis and Johanne Ouellette for technical assistance with electron microscopy