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Article

Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals.

Journal of clinical immunology - 1 May 2016

Felgentreff Kerstin, Baxi Sachin N, Lee Yu Nee, Dobbs Kerry, Henderson Lauren A, Csomos Krisztian, Tsitsikov Erdyni N, Armanios Mary, Walter Jolan E, Notarangelo Luigi D

Abstract excerpt

PURPOSE: DNA Ligase 4 (LIG4) is a key factor in the non-homologous end-joining (NHEJ) DNA double-strand break repair pathway needed for V(D)J recombination and the generation of the T cell receptor and immunoglobulin molecules. Defects in LIG4 result in a variable syndrome of growth retardation, pancytopenia, combined immunodeficiency, cellular radiosensitivity, and developmental delay. METHODS: We diagnosed a...

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

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Source

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Identifiers

PMID: 27063650
DOI: 10.1007/s10875-016-0266-5
PMCID: PMC4842108

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.

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