Case Report: Wide Spectrum of Manifestations of Ligase IV Deficiency: Report of 3 Cases

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 present 3 unrelated cases of ligase...

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Detalles Bibliográficos
Autores principales: Castro, Ana Costa e, Maia, Raquel, Batalha, Sara, Freixo, João Parente, Martins, Catarina, Neves, Conceição, Cordeiro, Ana Isabel, Neves, João Farela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9111885/
https://www.ncbi.nlm.nih.gov/pubmed/35592332
http://dx.doi.org/10.3389/fimmu.2022.869728

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9111885/
https://www.ncbi.nlm.nih.gov/pubmed/35592332
http://dx.doi.org/10.3389/fimmu.2022.869728

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