Revisiting the immunopathology of congenital disorders of glycosylation

Detalhes bibliográficos
Autor(a) principal: Pascoal, Carlota
Data de Publicação: 2024
Outros Autores: Francisco, Rita, Mexia, Patrícia, Pereira, Beatriz Luís, Granjo, Pedro, Coelho, Helena, Barbosa, Mariana, dos Reis Ferreira, Vanessa, Videira, Paula Alexandra
Tipo de documento: Outros
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10362/168993
Resumo: The author(s) declare that financial support was received for the research, authorship, and/or publication of this article. This work received financial support from the European Commission through the GLYCOTwinning project (Grant Pascoal et al. 10.3389/fimmu.2024.1350101 Frontiers in Immunology 16 frontiersin.org Agreement: 101079417). CP thanks FCT for the grant. BP (EJPRD/0001/2020/ B2) thanks EJPRD COFUND-EJP N 825575 for her fellowship through the ProDGNE project (EJPRD/0001/2020). PG thanks the CDG & Allies – Professionals and Patient Associations International Network for the 9th Liliana Scientific Initiation Scholarship. HC thanks FCT for the CEEC the funding project 2023.00074.RESTART. Publisher Copyright: Copyright © 2024 Pascoal, Francisco, Mexia, Pereira, Granjo, Coelho, Barbosa, dos Reis Ferreira and Videira.
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spelling Revisiting the immunopathology of congenital disorders of glycosylationan updated reviewcell adhesion moleculescongenital disorders of glycosylationhost-pathogen interactionsimmune responseinborn errors of immunityPMM2-CDGImmunology and AllergyImmunologyThe author(s) declare that financial support was received for the research, authorship, and/or publication of this article. This work received financial support from the European Commission through the GLYCOTwinning project (Grant Pascoal et al. 10.3389/fimmu.2024.1350101 Frontiers in Immunology 16 frontiersin.org Agreement: 101079417). CP thanks FCT for the grant. BP (EJPRD/0001/2020/ B2) thanks EJPRD COFUND-EJP N 825575 for her fellowship through the ProDGNE project (EJPRD/0001/2020). PG thanks the CDG & Allies – Professionals and Patient Associations International Network for the 9th Liliana Scientific Initiation Scholarship. HC thanks FCT for the CEEC the funding project 2023.00074.RESTART. Publisher Copyright: Copyright © 2024 Pascoal, Francisco, Mexia, Pereira, Granjo, Coelho, Barbosa, dos Reis Ferreira and Videira.Glycosylation is a critical post-translational modification that plays a pivotal role in several biological processes, such as the immune response. Alterations in glycosylation can modulate the course of various pathologies, such as the case of congenital disorders of glycosylation (CDG), a group of more than 160 rare and complex genetic diseases. Although the link between glycosylation and immune dysfunction has already been recognized, the immune involvement in most CDG remains largely unexplored and poorly understood. In this study, we provide an update on the immune dysfunction and clinical manifestations of the 12 CDG with major immune involvement, organized into 6 categories of inborn errors of immunity according to the International Union of Immunological Societies (IUIS). The immune involvement in phosphomannomutase 2 (PMM2)-CDG - the most frequent CDG - was comprehensively reviewed, highlighting a higher prevalence of immune issues during infancy and childhood and in R141H-bearing genotypes. Finally, using PMM2-CDG as a model, we point to links between abnormal glycosylation patterns in host cells and possibly favored interactions with microorganisms that may explain the higher susceptibility to infection. Further characterizing immunopathology and unusual host-pathogen adhesion in CDG can not only improve immunological standards of care but also pave the way for innovative preventive measures and targeted glycan-based therapies that may improve quality of life for people living with CDG.UCIBIO - Applied Molecular Biosciences UnitDCV - Departamento de Ciências da VidaDQ - Departamento de QuímicaRUNPascoal, CarlotaFrancisco, RitaMexia, PatríciaPereira, Beatriz LuísGranjo, PedroCoelho, HelenaBarbosa, Marianados Reis Ferreira, VanessaVideira, Paula Alexandra2024-06-24T22:29:07Z20242024-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/other22application/pdfhttp://hdl.handle.net/10362/168993eng1664-3224PURE: 87716313https://doi.org/10.3389/fimmu.2024.1350101info: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:RCAAP2024-07-08T01:33:47Zoai:run.unl.pt:10362/168993Portal AgregadorONGhttps://www.rcaap.pt/oai/openairemluisa.alvim@gmail.comopendoar:71602024-07-08T01:33:47Repositório 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 Revisiting the immunopathology of congenital disorders of glycosylation
an updated review
title Revisiting the immunopathology of congenital disorders of glycosylation
spellingShingle Revisiting the immunopathology of congenital disorders of glycosylation
Pascoal, Carlota
cell adhesion molecules
congenital disorders of glycosylation
host-pathogen interactions
immune response
inborn errors of immunity
PMM2-CDG
Immunology and Allergy
Immunology
title_short Revisiting the immunopathology of congenital disorders of glycosylation
title_full Revisiting the immunopathology of congenital disorders of glycosylation
title_fullStr Revisiting the immunopathology of congenital disorders of glycosylation
title_full_unstemmed Revisiting the immunopathology of congenital disorders of glycosylation
title_sort Revisiting the immunopathology of congenital disorders of glycosylation
author Pascoal, Carlota
author_facet Pascoal, Carlota
Francisco, Rita
Mexia, Patrícia
Pereira, Beatriz Luís
Granjo, Pedro
Coelho, Helena
Barbosa, Mariana
dos Reis Ferreira, Vanessa
Videira, Paula Alexandra
author_role author
author2 Francisco, Rita
Mexia, Patrícia
Pereira, Beatriz Luís
Granjo, Pedro
Coelho, Helena
Barbosa, Mariana
dos Reis Ferreira, Vanessa
Videira, Paula Alexandra
author2_role author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv UCIBIO - Applied Molecular Biosciences Unit
DCV - Departamento de Ciências da Vida
DQ - Departamento de Química
RUN
dc.contributor.author.fl_str_mv Pascoal, Carlota
Francisco, Rita
Mexia, Patrícia
Pereira, Beatriz Luís
Granjo, Pedro
Coelho, Helena
Barbosa, Mariana
dos Reis Ferreira, Vanessa
Videira, Paula Alexandra
dc.subject.por.fl_str_mv cell adhesion molecules
congenital disorders of glycosylation
host-pathogen interactions
immune response
inborn errors of immunity
PMM2-CDG
Immunology and Allergy
Immunology
topic cell adhesion molecules
congenital disorders of glycosylation
host-pathogen interactions
immune response
inborn errors of immunity
PMM2-CDG
Immunology and Allergy
Immunology
description The author(s) declare that financial support was received for the research, authorship, and/or publication of this article. This work received financial support from the European Commission through the GLYCOTwinning project (Grant Pascoal et al. 10.3389/fimmu.2024.1350101 Frontiers in Immunology 16 frontiersin.org Agreement: 101079417). CP thanks FCT for the grant. BP (EJPRD/0001/2020/ B2) thanks EJPRD COFUND-EJP N 825575 for her fellowship through the ProDGNE project (EJPRD/0001/2020). PG thanks the CDG & Allies – Professionals and Patient Associations International Network for the 9th Liliana Scientific Initiation Scholarship. HC thanks FCT for the CEEC the funding project 2023.00074.RESTART. Publisher Copyright: Copyright © 2024 Pascoal, Francisco, Mexia, Pereira, Granjo, Coelho, Barbosa, dos Reis Ferreira and Videira.
publishDate 2024
dc.date.none.fl_str_mv 2024-06-24T22:29:07Z
2024
2024-01-01T00:00:00Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/other
format other
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10362/168993
url http://hdl.handle.net/10362/168993
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 1664-3224
PURE: 87716313
https://doi.org/10.3389/fimmu.2024.1350101
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 22
application/pdf
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
repository.mail.fl_str_mv mluisa.alvim@gmail.com
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