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1
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…
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Keywords:
dna;
ligase deficiency;
dna ligase;
deficiency ... See more keywords
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2
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…
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Keywords:
report wide;
wide spectrum;
case report;
ligase deficiency ... See more keywords