Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO).

American journal of human genetics - 1 Dec 2000

Zonana J, Elder M E, Schneider L C, Orlow S J, Moss C, Golabi M, Shapira S K, Farndon P A, Wara D W, Emmal S A, Ferguson B M

Abstract excerpt

Hypohidrotic ectodermal dysplasia (HED), a congenital disorder of teeth, hair, and eccrine sweat glands, is usually inherited as an X-linked recessive trait, although rarer autosomal dominant and recessive forms exist. We have studied males from four families with HED and immunodeficiency (HED-ID...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Ectodermal Dysplasia
Share to Genes, Recessive

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to I-kappa B Kinase

Share to Immunologic Deficiency Syndromes

Share to Incontinentia Pigmenti

Share to NF-kappa B

Share to Protein Serine-Threonine Kinases

Share to X Chromosome

Source

Open in PubMed Open full text

Identifiers

PMID: 11047757
DOI: 10.1086/316914
PMCID: PMC1287930

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11047757-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO).PMID 11047757Read ↗

X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.Semantic proximity Read ↗

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

Non-Skewed X-inactivation Results in NF-κB Essential Modulator (NEMO) Δ-exon 5-autoinflammatory Syndrome (NEMO-NDAS) in a Female with Incontinentia Pigmenti.Semantic proximity Read ↗

Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology.Semantic proximity Read ↗

EDA-ID and IP, two faces of the same coin: how the same IKBKG/NEMO mutation affecting the NF-κB pathway can cause immunodeficiency and/or inflammation.Semantic proximity Read ↗

Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations.Semantic proximity Read ↗

Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma).Semantic proximity Read ↗

A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency.Semantic proximity Read ↗

Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.Semantic proximity Read ↗

Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti.Semantic proximity Read ↗

A Novel Mutation in IKBKG/NEMO Leads to Ectodermal Dysplasia with Severe Immunodeficiency (EDA-ID).Semantic proximity Read ↗

A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.