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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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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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. |
format | Online Article Text |
id | pubmed-9111885 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
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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