Figure 6. C9orf72^−/− mice show increased serum autoantibodies and increased T follicular helper cells reminiscent of human SLE.

(A) Serum ELISAs from the same cohort of mice assayed at 8 and 24 weeks of age demonstrate elevated levels of circulation ANA and SLE-specific autoantibodies, anti-Sm, and anti-cardiolipin as early as 8 weeks in C9orf72^−/−mice. At 24 week timepoint, all three autoantibodies are significantly increased in null mice with fold increases observed in comparison to WT. Heterozygous mice display values comparable to WT consistent with the absence of an observed phenotype. (B) Tfh cells (CD4⁺CXCR5⁺CD44⁺ICOS⁺PD-1⁺Bcl-6⁺) are significantly increased by percent and total cell count in C9orf72^−/− spleen and cervical LN (A) Graphs represent mean ± s.e.m. (***P ≤ 0.001 and ****P ≤ 0.0001 by one-way ANOVA), 8 and 24 week females, n ≥ 12 per genotype. (B) Graphs represent mean ± s.e.m. (*P ≤ 0.05, **P ≤ 0.01 by unpaired Students t-test), 26 week females, n = 5 per genotype.