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. 2024 Nov 16;15:9944. doi: 10.1038/s41467-024-54345-4

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© The Author(s) 2024

Open Access This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License, which permits any non-commercial use, sharing, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if you modified the licensed material. You do not have permission under this licence to share adapted material derived from this article or parts of it. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by-nc-nd/4.0/.

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Fig. 5 — A–C Number of unique clonotypes, d50 diversity index (number of clonotypes occupying 50% of the repertoires), and complementarity-determining region 3 (CDR3) amino acid length of the BCR IgM (B cell receptor μ heavy chain) repertoire in healthy controls (n = 3) and patients (n = 3). Although the d50 diversity index did not reach statistical significance, possibly due to the sample size, there was a trend of limited BCR IgM diversity (p = 0.08). D BCR IgM (B cell receptor μ heavy chain) gene usage comparison between patients and healthy controls. Red bars indicate healthy controls (n = 3), and blue bars indicate IKKα^G167R patients (n = 3). Two-tailed, non-paired t-test was used for statistical analysis. Data are presented as mean values and SD. E Somatic hypermutation (SHM) rate was calculated in rearranged variable regions of the IgM heavy chain (IGHV) genes and given as the percentage of insertions and/or deletions in total number of sequences in patients and healthy controls. Two-tailed, non-paired t-test was used for statistical analysis, p < 0.0001. F Downsampled d50 diversity index (number of clonotypes occupying the 50% of repertoires) and complementary-determining region 3 (CDR3) amino acid length of BCR IgG (B cell receptor γ heavy chain) repertoire of healthy controls and patients. Normalization was performed by downsampling the data to the smallest number of clones. Two-tailed, non-paired t-test was used for statistical analysis, p = 0.0057. G Somatic hypermutation (SHM) rate was calculated in rearranged variable regions of the IgG heavy chain (IGHV) genes and given as the percentage of insertions and/or deletions in total number of sequences in patients and healthy controls. Two-tailed, non-paired t-test was used for statistical analysis, p = 0.0084. H Auto-antibodies against interferon alfa (IFNα) 2a were tested by enzyme-linked immunosorbent assay (ELISA) using plasma samples from 4 healthy controls and 2 patients (P1 and P3). OD measurements at 450 nm were shown from 1/100 diluted plasma samples.