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Article

Nuclear factor kappaB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia.

The Journal of allergy and clinical immunology - 1 Dec 2004

Niehues Tim, Reichenbach Janine, Neubert Jennifer, Gudowius Sonja, Puel Anne, Horneff Gerd, Lainka Elke, Dirksen Uta, Schroten Horst, Döffinger Rainer, Casanova Jean Laurent, Wahn Volker

Abstract excerpt

BACKGROUND: Amorphic mutations in the X-linked nuclear factor kappaB essential modulator ( NEMO ) gene cause Incontinentia pigmenti, which is lethal in hemizygous male patients. Hypomorphic NEMO mutations in male patients lead to anhidrotic ectodermal dysplasia (EDA) with immunodeficiency. OBJECT...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15577852
DOI: 10.1016/j.jaci.2004.08.047

Genes

EDA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15577852-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Nuclear factor kappaB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia.PMID 15577852Read ↗

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