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Article

Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency.

Journal of clinical immunology - 1 Jul 2017

Boisson Bertrand, Puel Anne, Picard Capucine, Casanova Jean-Laurent

Abstract excerpt

Germline heterozygous gain-of-function (GOF) mutations of NFKBIA, encoding IκBα, cause an autosomal dominant (AD) form of anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID). Fourteen unrelated patients have been reported since the identification of the first case in 2003. All mutations enhanced the inhibitory activity of IκBα, by preventing its phosphorylation on serine 32 or 36 and its subsequent...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 28597146
DOI: 10.1007/s10875-017-0400-z
PMCID: PMC5563390

Genes

EDA
BCR
NFKBIA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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