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. 2023 Nov 8;623(7988):803–813. doi: 10.1038/s41586-023-06717-x

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© The Author(s) 2023

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, 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 changes were made. 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/4.0/.

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Fig. 2 — a, FFT-accelerated interpolation-based (FI) t-distributed stochastic neighbour embedding (t-SNE) analysis of concatenated whole-blood samples from ten patients with p52^LOF/IκBδ^GOF variants, and ten age-matched healthy control individuals (HC), based on cytometry by time of flight (CyTOF) data. t-SNE analysis is not shown for the patients with p52^LOF/IκBδ^LOF variants (n = 4) or APS-1 (n = 6) owing to their lower number. NK, natural killer cells; mDCs and pDCs, myeloid and plasmacytoid dendritic cells, respectively. b, Uniform manifold approximation and projection (UMAP)-based unsupervised clustering analysis of CD19⁺ B cells from a concatenated group of 10 patients with p52^LOF/IκBδ^GOF variants and 31 age-matched controls (HC), with a heat map showing the mean levels of the surface markers included in the clustering defining 19 distinct metaclusters, CD27 marker expression and the metacluster distribution in healthy control individuals and patients with p52^LOF/IκBδ^GOF variants. c, The number of B cells and the proportions of memory B cells, T_reg cells and circulating T_FH (cT_FH) cells in patients with a p52^LOF/IκBδ^GOF variant (n = 10, red dots, except for the B cell numbers, showing only patients above 6 years of age, n = 9), age-matched controls (n = 27, black dots), patients with a p52^LOF/IκBδ^LOF variant (n = 4, orange dots) and patients with APS-1 (n = 6, green dots). Statistical comparisons were performed using two-tailed Mann–Whitney U-tests. AD, autosomal dominant. d, The proportion and number of patients with p52^LOF/IκBδ^GOF (n = 57), p52^GOF/IκBδ^LOF (n = 6) or p52^LOF/IκBδ^LOF (n = 7, including 4 reported here and 3 previously reported⁵⁶) NF-κB2 variants with their corresponding clinical manifestations. e, The proportion and number of patients with severe/recurrent (red shape) or no/non-severe (grey shape) viral diseases among the 57 patients with p52^LOF/IκBδ^GOF NF-κB2 variants. f, COVID-19 severity scale for unvaccinated patients with a p52^LOF/IκBδ^GOF (red dots, n = 9), p52^LOF/IκBδ^LOF (orange dots, n = 2), p52^GOF/IκBδ^LOF (blue dots, n = 2) or neutral (grey dots, n = 2) NF-κB2 variant. Statistical comparisons were performed using two-tailed Mann–Whitney U-tests. g, Age at the COVID-19 episode in unvaccinated patients with a p52^LOF/IκBδ^GOF (red dots, n = 9), p52^LOF/IκBδ^LOF (orange dots, n = 2), p52^GOF/IκBδ^LOF (blue dots, n = 2) or neutral (grey dots, n = 2) NF-κB2 variant, as a function of COVID-19 severity. Statistical comparisons were performed using two-tailed Mann–Whitney U-tests.