New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach

Detalhes bibliográficos
Autor(a) principal: Francisco, Rita
Data de Publicação: 2020
Outros Autores: Pascoal, Carlota, Marques-da-Silva, Dorinda, Brasil, Sandra, Pimentel-Santos, Fernando M, Altassan, Ruqaiah, Jaeken, Jaak, Grosso, Ana Rita, Dos Reis Ferreira, Vanessa, Videira, Paula A
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10362/117131
Resumo: SFRH/BD/124326/2016 SFRH/BD/138647/2018
id RCAP_c4d33772cdc91107c79e2ae0721282e9
oai_identifier_str oai:run.unl.pt:10362/117131
network_acronym_str RCAP
network_name_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository_id_str 7160
spelling New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approachcongenital disorder(s) of glycosylation (CDG)PMM2-CDGimmune responseinfectionsallergiesvaccinationgastrointestinal tract (GI)e-questionnairepeople-centricitySDG 3 - Good Health and Well-beingSFRH/BD/124326/2016 SFRH/BD/138647/2018Congenital disorders of glycosylation (CDG) are rare diseases with variable phenotypes and severity. Immunological involvement remains a largely uncharted topic in CDG, mainly due to lack of robust data. To better characterize immune-related manifestations' prevalence, relevance, and quality-of-life (QoL) impact, we developed electronic questionnaires targeting (1) CDG patients and (2) the general "healthy" population. Two-hundred and nine CDG patients/caregivers and 349 healthy participants were included in this study. PMM2-CDG was the most represented CDG (n = 122/209). About half of these participants (n = 65/122) described relevant infections with a noteworthy prevalence of those affecting the gastrointestinal tract (GI) (63.1%, n = 41/65). Infection burden and QoL impact were shown as infections correlated with more severe clinical phenotypes and with a set of relevant non-immune PMM2-CDG signs. Autoimmune diseases had only a marginal presence in PMM2-CDG (2.5%, n = 3/122), all being GI-related. Allergy prevalence was also low in PMM2-CDG (33%, n = 41/122) except for food allergies (26.8%, n = 11/41, of PMM2-CDG and 10.8%, n = 17/158, of controls). High vaccination compliance with greater perceived ineffectiveness (28.3%, n = 17/60) and more severe adverse reactions were described in PMM2-CDG. This people-centric approach not only confirmed literature findings, but created new insights into immunological involvement in CDG, namely by highlighting the possible link between the immune and GI systems in PMM2-CDG. Finally, our results emphasized the importance of patient/caregiver knowledge and raised several red flags about immunological management.DCV - Departamento de Ciências da VidaUCIBIO - Applied Molecular Biosciences UnitCentro de Estudos de Doenças Crónicas (CEDOC)NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)RUNFrancisco, RitaPascoal, CarlotaMarques-da-Silva, DorindaBrasil, SandraPimentel-Santos, Fernando MAltassan, RuqaiahJaeken, JaakGrosso, Ana RitaDos Reis Ferreira, VanessaVideira, Paula A2021-05-05T23:22:52Z2020-07-032020-07-03T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10362/117131eng2077-0383PURE: 18996701https://doi.org/10.3390/jcm9072092info: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:RCAAP2024-03-11T05:00:10Zoai:run.unl.pt:10362/117131Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T03:43:29.137715Repositório 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 New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach
title New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach
spellingShingle New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach
Francisco, Rita
congenital disorder(s) of glycosylation (CDG)
PMM2-CDG
immune response
infections
allergies
vaccination
gastrointestinal tract (GI)
e-questionnaire
people-centricity
SDG 3 - Good Health and Well-being
title_short New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach
title_full New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach
title_fullStr New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach
title_full_unstemmed New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach
title_sort New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach
author Francisco, Rita
author_facet Francisco, Rita
Pascoal, Carlota
Marques-da-Silva, Dorinda
Brasil, Sandra
Pimentel-Santos, Fernando M
Altassan, Ruqaiah
Jaeken, Jaak
Grosso, Ana Rita
Dos Reis Ferreira, Vanessa
Videira, Paula A
author_role author
author2 Pascoal, Carlota
Marques-da-Silva, Dorinda
Brasil, Sandra
Pimentel-Santos, Fernando M
Altassan, Ruqaiah
Jaeken, Jaak
Grosso, Ana Rita
Dos Reis Ferreira, Vanessa
Videira, Paula A
author2_role author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv DCV - Departamento de Ciências da Vida
UCIBIO - Applied Molecular Biosciences Unit
Centro de Estudos de Doenças Crónicas (CEDOC)
NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)
RUN
dc.contributor.author.fl_str_mv Francisco, Rita
Pascoal, Carlota
Marques-da-Silva, Dorinda
Brasil, Sandra
Pimentel-Santos, Fernando M
Altassan, Ruqaiah
Jaeken, Jaak
Grosso, Ana Rita
Dos Reis Ferreira, Vanessa
Videira, Paula A
dc.subject.por.fl_str_mv congenital disorder(s) of glycosylation (CDG)
PMM2-CDG
immune response
infections
allergies
vaccination
gastrointestinal tract (GI)
e-questionnaire
people-centricity
SDG 3 - Good Health and Well-being
topic congenital disorder(s) of glycosylation (CDG)
PMM2-CDG
immune response
infections
allergies
vaccination
gastrointestinal tract (GI)
e-questionnaire
people-centricity
SDG 3 - Good Health and Well-being
description SFRH/BD/124326/2016 SFRH/BD/138647/2018
publishDate 2020
dc.date.none.fl_str_mv 2020-07-03
2020-07-03T00:00:00Z
2021-05-05T23:22:52Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10362/117131
url http://hdl.handle.net/10362/117131
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 2077-0383
PURE: 18996701
https://doi.org/10.3390/jcm9072092
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 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
_version_ 1799138044542976000

Registros relacionados