De novo NFKBIA variants within the N-terminal hotspot: consistent immunophenotype and divergent clinical presentations
BackgroundGermline 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 s…