Logo do repositório
 
Publicação

Case Report

2022-05-03Artigo científico Acesso aberto
Ver registo simples
dc.contributor.authorCastro, Ana Costa E
dc.contributor.authorMaia, Raquel
dc.contributor.authorBatalha, Sara
dc.contributor.authorFreixo, João Parente
dc.contributor.authorMartins, Catarina
dc.contributor.authorNeves, Conceição
dc.contributor.authorCordeiro, Ana Isabel
dc.contributor.authorNeves, João Farela
dc.contributor.institutionComprehensive Health Research Centre (CHRC) - pólo NMS
dc.contributor.institutionNOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)
dc.contributor.institutionCentro de Estudos de Doenças Crónicas (CEDOC)
dc.contributor.pblFrontiers
dc.date.accessioned2022-06-03T22:31:22Z
dc.date.available2022-06-03T22:31:22Z
dc.date.issued2022-05-03
dc.descriptionFunding 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.
dc.description.abstractDNA 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.en
dc.description.versionpublishersversion
dc.description.versionpublished
dc.format.extent770564
dc.identifier.doi10.3389/fimmu.2022.869728
dc.identifier.issn1664-3224
dc.identifier.otherPURE: 44221384
dc.identifier.otherPURE UUID: f6d6d7dd-f3bf-4e12-aa92-555823895a1f
dc.identifier.otherPubMed: 35592332
dc.identifier.otherPubMedCentral: PMC9111885
dc.identifier.otherORCID: /0000-0003-0353-0421/work/113992768
dc.identifier.otherScopus: 85130323720
dc.identifier.urihttp://hdl.handle.net/10362/139410
dc.language.isoeng
dc.peerreviewedyes
dc.subjectligase iv
dc.subjectimmunodeficiency
dc.subjectbone marrow failure
dc.subjectcase report
dc.subjecthypopigmentation
dc.subjectlymphopenia
dc.titleCase Reporten
dc.title.subtitleWide Spectrum of Manifestations of Ligase IV Deficiency: Report of 3 Casesen
dc.typejournal article
degois.publication.titleFrontiers in Immunology
degois.publication.volume13
dspace.entity.typePublication
rcaap.rightsopenAccess

Ficheiros

Principais
A mostrar 1 - 1 de 1
Miniatura
Nome:
fimmu_13_869728.pdf
Tamanho:
752.5 KB
Formato:
Adobe Portable Document Format
Ver/Abrir

Coleções

NMS: CHRC - Artigos em revista internacional com arbitragem científica