Fig. 3: Dysregulated B cell development in individuals with CBL-LOH.
a, Counts of peripheral B cells in individuals with CBL-LOH over time compared with the healthy range. Data from eight participants are shown. Healthy ranges are from pediatric clinical recommendations. b, IgG levels in individuals with CBL-LOH (P1–P8) over time compared with the healthy range. Data from eight participants are shown. Healthy ranges are from pediatric clinical recommendations. c, Quantification of the indicated B cell subsets in the peripheral cryopreserved mononuclear cell blood of HDs, heterozygous HDs and individuals with CBL-LOH of the indicated ages as determined by mass cytometry; controls 0–3 years old (n = 2), controls 4–15 years old (n = 9), controls 16–100 years old (n = 28), pediatric participants (LOH) (n = 5), adult participants (LOH) (n = 2), heterozygous individuals (n = 3). Data are shown as mean ± s.d. The statistical significance of differences was assessed in multiple two-sided Mann–Whitney tests, with correction for multiple testing; **P < 0.005 and ***P < 0.0005. y.o., years old. d, Frequency of B cell subsets in cryopreserved PBMCs from HDs and individuals with CBL-LOH as determined by flow cytometry; HDs (n = 13), individuals with CBL-LOH (n = 5). Data are shown as mean ± s.d. The statistical significance of differences was assessed using multiple two-sided Mann–Whitney tests, with correction for multiple testing; *P < 0.05 and **P < 0.005. e, CD5, CD9, CD21 and CD38 expression on transitional B cells of HDs (black) and individuals with CBL-LOH (red) as determined by flow cytometry; HDs (n = 19), individuals with CBL-LOH (n = 6). Data are shown as mean ± s.d. The statistical significance of differences was assessed by multiple two-sided Mann–Whitney tests, with correction for multiple testing; *P < 0.05, **P < 0.005 and ****P < 0.00005. f, Percentage of CD21hi cells among transitional B cells of HDs (black) and individuals with CBL-LOH (red) as determined by flow cytometry; HDs (n = 9), individuals with CBL-LOH (n = 5). Data are shown as mean ± s.d. The statistical significance of differences was assessed by Mann–Whitney test; ***P < 0.0005; gMFI, geometric mean fluorescence intensity.
