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Article

X-linked ectodermal dysplasia with immunodeficiency caused by NEMO mutation: early recognition and diagnosis.

Archives of dermatology - 1 Mar 2008

Mancini Anthony J, Lawley Leslie P, Uzel Gulbu

Abstract excerpt

BACKGROUND: X-linked ectodermal dysplasia with immunodeficiency (XL-EDA-ID) is described in patients with hypomorphic mutations in IKBKG (the inhibitory kappaB kinase gamma gene), which encodes nuclear factor kappaB essential modulator (NEMO). Features include hypohidrosis, dental anomalies, alopecia, and immunodeficiency. Boys with NEMO mutations often present with serious infections, but the NEMO mutations are...

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Source

Identifiers

PMID: 18347290
DOI: 10.1001/archderm.144.3.342

Genes

EDA

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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X-linked ectodermal dysplasia with immunodeficiency caused by NEMO mutation: early recognition and diagnosis.PMID 18347290Read ↗

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