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Article

Severe Combined Immunodeficiency from a Homozygous DNA Ligase 1 Mutant with Reduced Catalytic Activity but Increased Ligation Fidelity.

Journal of clinical immunology - 19 Jun 2024

Alajlan Huda, Raducanu Vlad-Stefan, Lopez de Los Santos Yossef, Tehseen Muhammad, Alruwaili Hibah, Al-Mazrou Amer, Mohammad Reem, Al-Alwan Monther, De Biasio Alfredo, Merzaban Jasmeen S, Al-Mousa Hamoud, Hamdan Samir M, Alazami Anas M

Abstract excerpt

A cell's ability to survive and to evade cancer is contingent on its ability to retain genomic integrity, which can be seriously compromised when nucleic acid phosphodiester bonds are disrupted. DNA Ligase 1 (LIG1) plays a key role in genome maintenance by sealing single-stranded nicks that are produced during DNA replication and repair. Autosomal recessive mutations in a limited number of individuals have been...

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Identifiers

PMID: 38896336
DOI: 10.1007/s10875-024-01754-1
PMCID: PMC11186889

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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.

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