Case Report
| Autor(a) principal: | |
|---|---|
| Data de Publicação: | 2022 |
| Outros Autores: | , , , , , , |
| Tipo de documento: | Artigo |
| Idioma: | eng |
| Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
| Texto Completo: | http://hdl.handle.net/10362/139410 |
Resumo: | Funding Information: The present publication was funded by Fundação Ciência e Tecnologia, IP national support through CHRC (UIDP/04923/2020). Funding Information: We thank our colleagues at “Centro de Genética Preditiva e Preventiva, Instituto de Biologia Molecular e Celular, Instituto de Investigacão e Inovacaão em Saúde, Porto” and Laboratory of Immunology, NOVA Medical School, Lisboa. The present publication was funded by Fundação Ciência e Tecnologia, IP national support through CHRC (UIDP/04923/2020). Publisher Copyright: Copyright © 2022 Castro, Maia, Batalha, Freixo, Martins, Neves, Cordeiro and Neves. |
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Case ReportWide Spectrum of Manifestations of Ligase IV Deficiency: Report of 3 Casesligase ivimmunodeficiencybone marrow failurecase reporthypopigmentationlymphopeniaFunding Information: The present publication was funded by Fundação Ciência e Tecnologia, IP national support through CHRC (UIDP/04923/2020). Funding Information: We thank our colleagues at “Centro de Genética Preditiva e Preventiva, Instituto de Biologia Molecular e Celular, Instituto de Investigacão e Inovacaão em Saúde, Porto” and Laboratory of Immunology, NOVA Medical School, Lisboa. The present publication was funded by Fundação Ciência e Tecnologia, IP national support through CHRC (UIDP/04923/2020). Publisher Copyright: Copyright © 2022 Castro, Maia, Batalha, Freixo, Martins, Neves, Cordeiro and Neves.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.Comprehensive Health Research Centre (CHRC) - pólo NMSNOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)Centro de Estudos de Doenças Crónicas (CEDOC)RUNCastro, Ana Costa EMaia, RaquelBatalha, SaraFreixo, João ParenteMartins, CatarinaNeves, ConceiçãoCordeiro, Ana IsabelNeves, João Farela2022-06-03T22:31:22Z2022-05-032022-05-03T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10362/139410eng1664-3224PURE: 44221384https://doi.org/10.3389/fimmu.2022.869728info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2024-03-11T05:16:46Zoai:run.unl.pt:10362/139410Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T03:49:26.455048Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
| dc.title.none.fl_str_mv |
Case Report Wide Spectrum of Manifestations of Ligase IV Deficiency: Report of 3 Cases |
| title |
Case Report |
| spellingShingle |
Case Report Castro, Ana Costa E ligase iv immunodeficiency bone marrow failure case report hypopigmentation lymphopenia |
| title_short |
Case Report |
| title_full |
Case Report |
| title_fullStr |
Case Report |
| title_full_unstemmed |
Case Report |
| title_sort |
Case Report |
| author |
Castro, Ana Costa E |
| author_facet |
Castro, Ana Costa E Maia, Raquel Batalha, Sara Freixo, João Parente Martins, Catarina Neves, Conceição Cordeiro, Ana Isabel Neves, João Farela |
| author_role |
author |
| author2 |
Maia, Raquel Batalha, Sara Freixo, João Parente Martins, Catarina Neves, Conceição Cordeiro, Ana Isabel Neves, João Farela |
| author2_role |
author author author author author author author |
| dc.contributor.none.fl_str_mv |
Comprehensive Health Research Centre (CHRC) - pólo NMS NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM) Centro de Estudos de Doenças Crónicas (CEDOC) RUN |
| dc.contributor.author.fl_str_mv |
Castro, Ana Costa E Maia, Raquel Batalha, Sara Freixo, João Parente Martins, Catarina Neves, Conceição Cordeiro, Ana Isabel Neves, João Farela |
| dc.subject.por.fl_str_mv |
ligase iv immunodeficiency bone marrow failure case report hypopigmentation lymphopenia |
| topic |
ligase iv immunodeficiency bone marrow failure case report hypopigmentation lymphopenia |
| description |
Funding Information: The present publication was funded by Fundação Ciência e Tecnologia, IP national support through CHRC (UIDP/04923/2020). Funding Information: We thank our colleagues at “Centro de Genética Preditiva e Preventiva, Instituto de Biologia Molecular e Celular, Instituto de Investigacão e Inovacaão em Saúde, Porto” and Laboratory of Immunology, NOVA Medical School, Lisboa. The present publication was funded by Fundação Ciência e Tecnologia, IP national support through CHRC (UIDP/04923/2020). Publisher Copyright: Copyright © 2022 Castro, Maia, Batalha, Freixo, Martins, Neves, Cordeiro and Neves. |
| publishDate |
2022 |
| dc.date.none.fl_str_mv |
2022-06-03T22:31:22Z 2022-05-03 2022-05-03T00:00:00Z |
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info:eu-repo/semantics/publishedVersion |
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info:eu-repo/semantics/article |
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article |
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publishedVersion |
| dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10362/139410 |
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http://hdl.handle.net/10362/139410 |
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eng |
| language |
eng |
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1664-3224 PURE: 44221384 https://doi.org/10.3389/fimmu.2022.869728 |
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info:eu-repo/semantics/openAccess |
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openAccess |
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application/pdf |
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reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
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RCAAP |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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