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

POLD3 deficiency is associated with severe combined immunodeficiency, neurodevelopmental delay, and hearing impairment.

Clinical immunology (Orlando, Fla.) - 1 Jun 2023

Mehawej Cybel, Chouery Eliane, Azar-Atallah Shirine, Shebaby Wassim, Delague Valerie, Mansour Issam, Mustapha Mirna, Lefranc Gerard, Megarbane Andre

Abstract excerpt

Combined immunodeficiency diseases (CID) represent the most severe forms of inborn errors of immunity. Defective T cell development and/or function, leading to an impairment in adaptive immunity are responsible for these diseases. The DNA polymerase δ complex is important for genome duplication and maintenance and consists of the catalytic subunit POLD1, and the accessory subunits POLD2 and POLD3 which stabilizes...

Read the complete abstract on PubMed

Topics

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

Share to DNA Polymerase III
Share to Hearing Loss

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homozygote

Share to Mutation

Share to Pedigree

Share to Severe Combined Immunodeficiency

Source

Identifiers

PMID: 37030525
DOI: 10.1016/j.clim.2023.109326

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

POLD3 deficiency is associated with severe combined immunodeficiency, neurodevelopmental delay, and hearing impairment.PMID 37030525Read ↗

RNA Polymerase III Subunit Mutations in Genetic DiseasesSemantic proximity Read ↗

POLD1: Central mediator of DNA replication and repair, and implication in cancer and other pathologies.Semantic proximity Read ↗

Variable Syndromic Immunodeficiency in Patients with Biallelic PRIM1 Mutations.Semantic proximity Read ↗

Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections.Semantic proximity Read ↗

Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency.Semantic proximity Read ↗

Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy.Semantic proximity Read ↗

An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy.Semantic proximity Read ↗

Inherited human TFIIIA deficiency disrupts T cell developmentSemantic proximity Read ↗

Novel mutations of the POLR3A gene caused POLR3-related leukodystrophy in a Chinese family: a case reportSemantic proximity Read ↗

Novel mutations of the POLR3A gene caused POLR3-related leukodystrophy in a Chinese family: a case reportSemantic proximity Read ↗

POLD1 variants leading to reduced polymerase activity can cause hearing loss without syndromic features.Semantic proximity Read ↗

Molecular basis of neurodegeneration in a mouse model of <i>Polr3</i> -related diseaseSemantic proximity Read ↗

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