Article
De novo NFKBIA variants within the N-terminal hotspot: consistent immunophenotype and divergent clinical presentations.
Frontiers in immunology - 1 Jan 2026
Gan Rui, Li Guangzhao, Zhou Lina, Wang Li, Dai Rongxin, Tang Xuemei, Wu Junfeng, Jia Yanjun, Zhou Qing, Zhao Xiaodong, An Yunfei
Abstract excerpt
Background: Germline monoallelic gain-of-function (GOF) variants in NFKBIA, encoding IκBα, cause a rare immunodeficiency syndrome classically described as autosomal-dominant anhidrotic ectodermal dysplasia with immunodeficiency. However, the pathogenic spectrum of variants within the N-terminal hotspot and the extent to which distinct alleles converge on shared immunologic phenotypes are not fully defined....
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