Articles with "ligase deficiency" as a keyword



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DNA ligase IV deficiency: Immunoglobulin class deficiency depends on the genotype

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Published in 2017 at "Pediatric Allergy and Immunology"

DOI: 10.1111/pai.12694

Abstract: DNA ligase IV (LIG4) deficiency (LIG4 syndrome, LS, OMIM 606593) is a very rare autosomal-recessive DNA-repair disorder first reported in 2001(1). In LS, genome instability results in a broad range of Onco-Hemato-Immunological disturbances, including progressive… read more here.

Keywords: dna; ligase deficiency; dna ligase; deficiency ... See more keywords
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Case Report: Wide Spectrum of Manifestations of Ligase IV Deficiency: Report of 3 Cases

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Published in 2022 at "Frontiers in Immunology"

DOI: 10.3389/fimmu.2022.869728

Abstract: DNA ligase IV deficiency is a rare autosomal recessive disorder associated with impaired DNA repair mechanisms. Most patients with DNA repair defects present with neurologic deficits, combined immunodeficiency, bone marrow failure, and/or hematologic neoplasia. We… read more here.

Keywords: report wide; wide spectrum; case report; ligase deficiency ... See more keywords