NFKB2 was first reported in relation to autosomal dominant common variable immunodeficiency 10 in 2013 (Chen et al., PMID: 24140114). Over 18 variants (variant type, e.g. missense, in-frame indel, nonsense, frameshift, splice, etc) that have been reported in 20 probands in 10 publications (PMIDs: 30599236, 25205549, 24888602, 25524009, 28472507, 32813180, 30941118, 24140114, 25237204, 28778864 ) are included in this curation. More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. The mechanism of pathogenicity appears to be GOF, LOF, and DN. This gene-disease association is also supported by animal models, expression studies, in vitro functional assays, and cell culture models (PMIDs: 28778864, 19524538, 12374738, 17254973, 9432973, 26851215, 9432976). In summary, NFKB2 is definitively associated with autosomal dominant common variable immunodeficiency 10. This has been repeatedly demonstrated in both the research and clinical diagnostic settings, and has been upheld over time.
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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