A Nonsense N –Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency
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DOI: 10.1007/s10875-020-00842-2
Abstract: The noncanonical NF-κB pathway is implicated in diverse biological and immunological processes. Monoallelic C-terminus loss-of-function and gain-of-function mutations of NFKB2 have been recently identified as a cause of immunodeficiency manifesting with common variable immunodeficiency (CVID)… read more here.
Keywords: immunodeficiency; nfkb2 mutation; haploinsufficiency; nonsense terminus ... See more keywords