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

Impaired B-cell function in ERCC2 deficiency.

Frontiers in immunology - 1 Jan 2024

Rossmanith Raphael, Sauerwein Kai, Geier Christoph B, Leiss-Piller Alexander, Stemberger Roman F, Sharapova Svetlana, Gruber Robert W, Bergler Helmut, Verbsky James W, Csomos Krisztian, Walter Jolan E, Wolf Hermann M

Abstract excerpt

Background: Trichothiodystrophy-1 (TTD1) is an autosomal-recessive disease and caused by mutations in ERCC2, a gene coding for a subunit of the TFIIH transcription and nucleotide-excision repair (NER) factor. In almost half of these patients infectious susceptibility has been reported but the underlying molecular mechanism leading to immunodeficiency is largely unknown. Objective: The aim of this study was to...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to B-Lymphocytes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to DNA Repair

Share to Lymphocyte Activation

Share to Mutation

Share to Xeroderma Pigmentosum Group D Protein

Source

Open in PubMed Open full text

Identifiers

PMID: 39055713
DOI: 10.3389/fimmu.2024.1423141
PMCID: PMC11269123

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

Impaired B-cell function in ERCC2 deficiency.PMID 39055713Read ↗

Immune dysfunction in nucleotide excision repair disorders: an underrecognized clinical phenotype with relevance for inborn errors of immunity.Semantic proximity Read ↗

Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy.Semantic proximity Read ↗

A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.Semantic proximity Read ↗

Trichothiodystrophy: from basic mechanisms to clinical implications.Semantic proximity Read ↗

Correction by the ERCC2 gene of UV sensitivity and repair deficiency phenotype in a subset of trichothiodystrophy cells.Semantic proximity Read ↗

ERCC2 mutations in two siblings with a severe trichothiodystrophy phenotype.Semantic proximity Read ↗

Clinical and Molecular Heterogeneity of RTEL1 DeficiencySemantic proximity Read ↗

A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines.Semantic proximity Read ↗

Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene.Semantic proximity Read ↗

Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum.Semantic proximity Read ↗

Mouse model for the DNA repair/basal transcription disorder trichothiodystrophy reveals cancer predisposition.Semantic proximity Read ↗

Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum.Semantic proximity Read ↗

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