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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