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

Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV.

European journal of immunology - 1 Jan 2006

Buck Dietke, Moshous Despina, de Chasseval Régina, Ma Yunmei, le Deist Françoise, Cavazzana-Calvo Marina, Fischer Alain, Casanova Jean-Laurent, Lieber Michael R, de Villartay Jean-Pierre

Abstract excerpt

DNA double-strand breaks (dsb) during V(D)J recombination of T and B lymphocyte receptor genes are resolved by the non-homologous DNA end joining pathway (NHEJ) including at least six factors: Ku70, Ku80, DNA-PK(cs), Artemis, Xrcc4, and DNA ligase IV (Lig4). Artemis and Lig4 are the only known V(D)J/NHEJ factors found deficient in human genetic disorders. Null mutations of the Artemis gene result in a complete...

Read the complete abstract on PubMed

Topics

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

Share to DNA Ligase ATP
Share to DNA Ligases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Rearrangement, B-Lymphocyte

Share to Gene Rearrangement, T-Lymphocyte

Share to Immunoglobulin Variable Region

Share to Microcephaly

Share to Radiation Tolerance

Share to Severe Combined Immunodeficiency

Source

Identifiers

PMID: 16358361
DOI: 10.1002/eji.200535401

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

Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV.PMID 16358361Read ↗

An overview of three new disorders associated with genetic instability: LIG4 syndrome, RS-SCID and ATR-Seckel syndrome.Semantic proximity Read ↗

A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation.Semantic proximity Read ↗

Ligase IV syndrome.Semantic proximity Read ↗

Clinical spectrum of LIG4 deficiency is broadened with severe dysmaturity, primordial dwarfism, and neurological abnormalities.Semantic proximity Read ↗

DNA ligase IV syndrome; a review.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 ↗

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

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

XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiency.Semantic proximity Read ↗

Differential role of nonhomologous end joining factors in the generation, DNA damage response, and myeloid differentiation of human induced pluripotent stem cells.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 ↗

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

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