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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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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:
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
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author Castro, Ana Costa e
Maia, Raquel
Batalha, Sara
Freixo, João Parente
Martins, Catarina
Neves, Conceição
Cordeiro, Ana Isabel
Neves, João Farela
author_facet Castro, Ana Costa e
Maia, Raquel
Batalha, Sara
Freixo, João Parente
Martins, Catarina
Neves, Conceição
Cordeiro, Ana Isabel
Neves, João Farela
author_sort Castro, Ana Costa e
collection PubMed
description 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 IV deficiency with different clinical presentations. Patient 1 presented at the age of 5 with bone marrow failure, dysmorphic features, and T and B lymphopenia. A compound heterozygous variant L19W/K635fs in the LIG4 gene was identified. Patient 2 presented at the age of 16 with recurrent infections. He had agammaglobulinemia and absent B cells. A homozygous R278H in the LIG4 gene was identified. Patient 3 was referred for vitiligo and B-cell lymphopenia (low class-switched B cells) and hypogammaglobulinemia. Homozygous R278H in LIG4 was also identified. In the last few years, the spectrum of clinical manifestations caused by ligase IV deficiency has widened, making it very difficult to establish an accurate clinical diagnosis. The use of NGS allows a proper diagnosis and provides a better prognosis and adequate family counseling.
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spelling pubmed-91118852022-05-18 Case Report: Wide Spectrum of Manifestations of Ligase IV Deficiency: Report of 3 Cases Castro, Ana Costa e Maia, Raquel Batalha, Sara Freixo, João Parente Martins, Catarina Neves, Conceição Cordeiro, Ana Isabel Neves, João Farela Front Immunol Immunology 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 IV deficiency with different clinical presentations. Patient 1 presented at the age of 5 with bone marrow failure, dysmorphic features, and T and B lymphopenia. A compound heterozygous variant L19W/K635fs in the LIG4 gene was identified. Patient 2 presented at the age of 16 with recurrent infections. He had agammaglobulinemia and absent B cells. A homozygous R278H in the LIG4 gene was identified. Patient 3 was referred for vitiligo and B-cell lymphopenia (low class-switched B cells) and hypogammaglobulinemia. Homozygous R278H in LIG4 was also identified. In the last few years, the spectrum of clinical manifestations caused by ligase IV deficiency has widened, making it very difficult to establish an accurate clinical diagnosis. The use of NGS allows a proper diagnosis and provides a better prognosis and adequate family counseling. Frontiers Media S.A. 2022-05-03 /pmc/articles/PMC9111885/ /pubmed/35592332 http://dx.doi.org/10.3389/fimmu.2022.869728 Text en Copyright © 2022 Castro, Maia, Batalha, Freixo, Martins, Neves, Cordeiro and Neves https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Immunology
Castro, Ana Costa e
Maia, Raquel
Batalha, Sara
Freixo, João Parente
Martins, Catarina
Neves, Conceição
Cordeiro, Ana Isabel
Neves, João Farela
Case Report: Wide Spectrum of Manifestations of Ligase IV Deficiency: Report of 3 Cases
title Case Report: Wide Spectrum of Manifestations of Ligase IV Deficiency: Report of 3 Cases
title_full Case Report: Wide Spectrum of Manifestations of Ligase IV Deficiency: Report of 3 Cases
title_fullStr Case Report: Wide Spectrum of Manifestations of Ligase IV Deficiency: Report of 3 Cases
title_full_unstemmed Case Report: Wide Spectrum of Manifestations of Ligase IV Deficiency: Report of 3 Cases
title_short Case Report: Wide Spectrum of Manifestations of Ligase IV Deficiency: Report of 3 Cases
title_sort case report: wide spectrum of manifestations of ligase iv deficiency: report of 3 cases
topic Immunology
url 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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