Logo do repositório
 
Publicação

Precision medicine

2022-12-08Recensão Acesso aberto
Ver registo simples
dc.contributor.authorPinto, Marta Valente
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.pblFrontiers
dc.date.accessioned2023-01-09T22:16:29Z
dc.date.available2023-01-09T22:16:29Z
dc.date.issued2022-12-08
dc.descriptionFunding Information: This work was supported by the National Key Research and Development Program (2020YFA0707900, 2018YFE0201100, 2019YFA0110800 to W.L., 2018YFA0108400, 2019YFA0903800 to Q.Z.), the Strategic Priority Research Program of the Chinese Academy of Sciences (XDA16030403 to W.L.), the National Natural Science Foundation of China (31621004 to Q.Z. and W.L.), and the CAS Project for Young Scientists in Basic Research (YSBR-012 to W.L.). We thank Xia Yang and Jinxin Yang for their help with fluorescence activated cell sorting and cell culture. Publisher Copyright: Copyright © 2022 Pinto and Neves.
dc.description.abstractPrimary immunodeficiencies (PID) are rare, complex diseases that can be characterised by a spectrum of phenotypes, from increased susceptibility to infections to autoimmunity, allergy, auto-inflammatory diseases and predisposition to malignancy. With the introduction of genetic testing in these patients and wider use of next-Generation sequencing techniques, a higher number of pathogenic genetic variants and conditions have been identified, allowing the development of new, targeted treatments in PID. The concept of precision medicine, that aims to tailor the medical interventions to each patient, allows to perform more precise diagnosis and more importantly the use of treatments directed to a specific defect, with the objective to cure or achieve long-term remission, minimising the number and type of side effects. This approach takes particular importance in PID, considering the nature of causative defects, disease severity, short- and long-term complications of disease but also of the available treatments, with impact in life-expectancy and quality of life. In this review we revisit how this approach can or is already being implemented in PID and provide a summary of the most relevant treatments applied to specific diseases.en
dc.description.versionpublishersversion
dc.description.versionpublished
dc.format.extent2363968
dc.identifier.doi10.3389/fimmu.2022.1029560
dc.identifier.issn1664-3224
dc.identifier.otherPURE: 49451917
dc.identifier.otherPURE UUID: 9b14b08f-c754-4ed1-b655-b32c753479f7
dc.identifier.otherScopus: 85144529572
dc.identifier.otherPubMed: 36569887
dc.identifier.otherWOS: 000900116000001
dc.identifier.urihttp://hdl.handle.net/10362/147235
dc.identifier.urlhttps://www.scopus.com/pages/publications/85144529572
dc.language.isoeng
dc.peerreviewedyes
dc.subjectNGS
dc.subjectPIRD
dc.subjectprecision medicine
dc.subjectprimary immunodeficiencies
dc.subjecttarget therapies
dc.subjectImmunology and Allergy
dc.subjectImmunology
dc.subjectSDG 3 - Good Health and Well-being
dc.titlePrecision medicineen
dc.title.subtitleThe use of tailored therapy in primary immunodeficienciesen
dc.typereview
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_1029560.pdf
Tamanho:
2.25 MB
Formato:
Adobe Portable Document Format
Ver/Abrir

Coleções

NMS: CHRC - Artigos em revista internacional com arbitragem científica