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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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Extended Data Fig. 1 — (a) Pedigrees of the patients heterozygous for rare variants of NFKB2. Generations are indicated by Roman numerals (I–II), and each symptomatic carrier included in the study, represented by a black symbol, is indicated as P followed by an Arabic numeral (P1–P73). Grey symbols represent relatives who are symptomatic carriers but for whom no material was available for this study. A vertical bar, within a white or grey symbol, indicates an asymptomatic carrier included or not included (due to a lack of available material), respectively in the study; an arrow indicates the index case; a black diagonal line indicates that the individual is deceased. “E?” indicates individuals of unknown genotype. (b) CADD-MAF (combined annotation-dependent depletion-minor allele frequency) graph of the rare or private NFKB2 variants (n = 28) from the 73 patients recruited. The red and white dots represent pLOF and missense heterozygous NFKB2 variants, respectively. Each score was calculated with CADD version 1.6. The dashed line represents the mutation significance (MSC) cutoff threshold of 33 for NFKB2. (C) CoNeS score of the NFKB2 gene.