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

NEMO mutations in 2 unrelated boys with severe infections and conical teeth.

Pediatrics - 1 May 2005

Ku Cheng-Lung, Dupuis-Girod Sophie, Dittrich Anna-Maria, Bustamante Jacinta, Santos Orchidée Filipe, Schulze Ilka, Bertrand Yves, Couly Gérard, Bodemer Christine, Bossuyt Xavier, Picard Capucine, Casanova Jean-Laurent

Abstract excerpt

X-linked recessive anhidrotic ectodermal dysplasia with immunodeficiency is a developmental and immunologic disorder caused by mutations in nuclear factor-kappaB essential modulator (NEMO), which is essential for nuclear factor-kappaB activation. Early in life, affected boys present a typical appearance, with hypotrichosis or atrichosis, hypohidrosis or anhidrosis, and hypodontia or anodontia with conical...

Read the complete abstract on PubMed

Topics

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

Share to Anodontia
Share to Bacterial Infections

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

Share to Ectodermal Dysplasia

Share to Genetic Diseases, X-Linked

Share to I-kappa B Kinase

Share to Immunoglobulins

Share to Immunologic Deficiency Syndromes

Share to Tooth Abnormalities

Source

Identifiers

PMID: 15833888
DOI: 10.1542/peds.2004-1754

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

NEMO mutations in 2 unrelated boys with severe infections and conical teeth.PMID 15833888Read ↗

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

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

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

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

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

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

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

Infectious diseases in patients with IRAK-4, MyD88, NEMO, or IκBα deficiency.Semantic proximity Read ↗

Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother.Semantic proximity Read ↗

IKBKG (nuclear factor-kappa B essential modulator) mutation can be associated with opportunistic infection without impairing Toll-like receptor function.Semantic proximity Read ↗

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

Congenital alterations of NEMO glutamic acid 223 result in hypohidrotic ectodermal dysplasia and immunodeficiency with normal serum IgG levels.Semantic proximity Read ↗

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