Discover Community Create You

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

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. OBJECTIVE: To report the clinical features of a child bearing a NEMO mutation who displayed an immunodeficiency without EDA....

Read the complete abstract on PubMed

Topics

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

Share to Carrier Proteins
Share to Child

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Ectodermal Dysplasia

Share to I-kappa B Kinase

Share to Immunoglobulin M

Share to Immunologic Deficiency Syndromes

Share to Interferon-gamma

Share to Mutation

Source

Identifiers

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

Genes

EDA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

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

The range of defects associated with nuclear factor kappaB essential modulator.Semantic proximity Read ↗

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

A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID).Semantic proximity Read ↗

Anhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO.Semantic proximity Read ↗

The presentation and natural history of immunodeficiency caused by nuclear factor kappaB essential modulator mutation.Semantic proximity Read ↗

Case Report: X-linked recessive anhidrotic ectodermal dysplasia with immunodeficiency and an unusual Aspergillus infectionSemantic 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 ↗

Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia.Semantic proximity Read ↗

Immune deficiency caused by impaired expression of nuclear factor-kappaB essential modifier (NEMO) because of a mutation in the 5' untranslated region of the NEMO gene.Semantic proximity Read ↗

Diagnosis and Treatment in Anhidrotic Ectodermal Dysplasia with ImmunodeficiencySemantic proximity Read ↗

NEMO syndrome (incontinentia pigmenti) and systemic lupus erythematosus: a new disease association.Semantic proximity Read ↗

Transient hemophagocytosis with deficient cellular cytotoxicity, monoclonal immunoglobulin M gammopathy, increased T-cell numbers, and hypomorphic NEMO mutation.Semantic proximity Read ↗

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