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

DNA ligase IV syndrome; a review.

Orphanet journal of rare diseases - 7 Oct 2016

Altmann Thomas, Gennery Andrew R

Abstract excerpt

DNA ligase IV deficiency is a rare primary immunodeficiency, LIG4 syndrome, often associated with other systemic features. DNA ligase IV is part of the non-homologous end joining mechanism, required to repair DNA double stranded breaks. Ubiquitously expressed, it is required to prevent mutagenesis and apoptosis, which can result from DNA double strand breakage caused by intracellular events such as DNA...

Read the complete abstract on PubMed

Topics

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

Share to DNA Breaks, Double-Stranded
Share to DNA Ligase ATP
Share to DNA Repair

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

Share to Gene Expression Regulation, Enzymologic

Share to LIG4 gene

Share to Immunodeficiency and Autoimmune Disorders

Share to Immunologic Deficiency Syndromes

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 27717373
DOI: 10.1186/s13023-016-0520-1
PMCID: PMC5055698

Genes

LIG4

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

DNA ligase IV syndrome; a review.PMID 27717373Read ↗

Ligase IV syndrome.Semantic proximity Read ↗

Ligase IV syndrome can present with microcephaly and radial ray anomalies similar to Fanconi anaemia plus fatal kidney malformations.Semantic proximity Read ↗

Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the LiteratureSemantic proximity Read ↗

DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.Semantic proximity Read ↗

Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals.Semantic proximity Read ↗

Case Report: Hypomorphic Ligase 4 deficiency - a paradigm of immunodysregulation.Semantic proximity Read ↗

Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndromeSemantic proximity Read ↗

A severe form of human combined immunodeficiency due to mutations in DNA ligase IV.Semantic proximity Read ↗

A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome.Semantic proximity Read ↗

Next generation sequencing revealed DNA ligase IV deficiency in a "developmentally normal" patient with massive brain Epstein-Barr virus-positive diffuse large B-cell lymphoma.Semantic proximity Read ↗

Molecular and immunological characterization of DNA ligase IV deficiency.Semantic proximity Read ↗

Altered DNA ligase activity in human diseaseSemantic proximity Read ↗

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