Article
Vulnerability to Meningococcal Disease in Immunodeficiency Due to a Novel Pathogenic Missense Variant in NFKB1.
Frontiers in immunology - 1 Jan 2021
Anim Manfred, Sogkas Georgios, Schmidt Gunnar, Dubrowinskaja Natalia, Witte Torsten, Schmidt Reinhold Ernst, Atschekzei Faranaz
Abstract excerpt
NF-κB1 deficiency is suggested to be the most common cause of common variable immunodeficiency (CVID). NFKB1 encodes for the p105 precursor protein of NF-κB1, which is converted into the active transcriptional subunit p50 through proteasomal processing of its C-terminal half upon stimulation and is implicated in the canonical NF-kB pathway. Rare monoallelic NFKB1 variants have been shown to cause (haplo)...
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