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

Specific NEMO mutations impair CD40-mediated c-Rel activation and B cell terminal differentiation.

The Journal of clinical investigation - 1 Dec 2004

Jain Ashish, Ma Chi A, Lopez-Granados Eduardo, Means Gary, Brady William, Orange Jordan S, Liu Shuying, Holland Steven, Derry Jonathan M J

Abstract excerpt

Hypomorphic mutations in the zinc finger domain of NF-kappaB essential modulator (NEMO) cause X-linked hyper-IgM syndrome with ectodermal dysplasia (XHM-ED). Here we report that patient B cells are characterized by an absence of Ig somatic hypermutation (SHM) and defective class switch recombination (CSR) despite normal induction of activation-induced cytidine deaminase (AID) and Iepsilon-Cepsilon transcripts....

Read the complete abstract on PubMed

Topics

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

Share to AICDA (Activation-Induced Cytidine Deaminase)
Share to CD40 Antigens

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cytosine Deaminase

Share to Hypergammaglobulinemia

Share to I-kappa B Kinase

Share to Immunoglobulin Class Switching

Share to Proto-Oncogene Proteins c-rel

Share to Somatic Hypermutation, Immunoglobulin

Source

Open in PubMed Open full text

Identifiers

PMID: 15578091
DOI: 10.1172/JCI21345
PMCID: PMC529497

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Specific NEMO mutations impair CD40-mediated c-Rel activation and B cell terminal differentiation.PMID 15578091Read ↗

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 ↗

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

Recruitment of A20 by the C-terminal domain of NEMO suppresses NF-κB activation and autoinflammatory disease.Semantic proximity Read ↗

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

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

Genetically programmed alternative splicing of NEMO mediates an autoinflammatory disease phenotype.Semantic proximity Read ↗

Impaired dendritic-cell function in ectodermal dysplasia with immune deficiency is linked to defective NEMO ubiquitination.Semantic proximity Read ↗

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

Transplantation from a symptomatic carrier sister restores host defenses but does not prevent colitis in NEMO deficiency.Semantic proximity Read ↗

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

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

T Cell Impairment Is Predictive for a Severe Clinical Course in NEMO Deficiency.Semantic proximity Read ↗

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