Skip to main content
. 2016 Oct 17;126(11):4219–4236. doi: 10.1172/JCI85647

Figure 4. Homozygous NEIL3 mutation, B cell activation, and serum autoantibodies in an asymptomatic healthy unrelated individual.

Figure 4

(A) Sanger sequencing chromatogram depicting the c.395_396AC>TG homozygous mutation in NEIL3 in a healthy unrelated adult asymptomatic subject (NEIL3D132V/D132V) compared with a control subject. (B and C) B cell proliferation (B) and Ig secretion (C) following stimulation of PBMC with anti-CD40+IL-4 or anti-CD40+IL-21. Columns and bars represent mean ± SEM of 5 controls and the NEIL3D132V/D132V subject. (D) Heat map display of IgM and IgG autoantibody reactivity in the sera of the NEIL3D132V/D132V subject compared with 2 healthy controls. Only autoantibodies, the levels of which were more than 2.5-fold higher in the NEIL3D132V/D132V subject than the mean of the controls, are shown. Values between brackets represent the fold increase in autoantibody levels in the subject with the NEIL3D132V/D132V mutation compared with the mean of the 2 controls.