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

2020-07-03Journal article Open access
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datacite.subject.fosCiências Médicas::Medicina Básica
datacite.subject.sdg03:Saúde de Qualidade
dc.contributor.authorFrancisco, Rita
dc.contributor.authorPascoal, Carlota
dc.contributor.authorMarques da Silva, Dorinda
dc.contributor.authorBrasil, Sandra
dc.contributor.authorPimentel-Santos, Fernando M.
dc.contributor.authorAltassan, Ruqaiah
dc.contributor.authorJaeken, Jaak
dc.contributor.authorGrosso, Ana Rita
dc.contributor.authorFerreira, Vanessa dos Reis
dc.contributor.authorVideira, Paula A.
dc.date.accessioned2025-09-03T16:37:12Z
dc.date.available2025-09-03T16:37:12Z
dc.date.issued2020-07-03
dc.description.abstractCongenital 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.eng
dc.description.sponsorshipFunding: Rita Francisco (SFRH/BD/124326/2016) and Carlota Pascoal (SFRH/BD/138647/2018) acknowledge the funding from the Fundação para a Ciência e Tecnologia (FCT), Portugal. Acknowledgments: The authors would like to acknowledge assistance provided by The European reference network for rare metabolic diseases (MetabERN) and the advisory committees—both scientific (David Cassiman and Eva Morava) and family-based (Barbara Vulso, Meral Omurtag, Merell Liddle, Rana Atwi and Tatiana Rijooff)—who assisted in the development, refinement and distribution of the ImmunoCDGQ. Lastly, a special thank you goes out to all worldwide CDG patient associations, clinicians, as well as to UCIBIO and CEDOC communication offices for their assistance in the dissemination of the ImmunoCDGQ and ImmunoHealthyQ.
dc.identifier.citationFrancisco, R., Pascoal, C., Marques-da-Silva, D., Brasil, S., Pimentel-Santos, F. M., Altassan, R., Jaeken, J., Grosso, A. R., dos Reis Ferreira, V., & Videira, P. A. (2020). New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach. Journal of Clinical Medicine, 9(7), 2092. https://doi.org/10.3390/jcm9072092.
dc.identifier.doi10.3390/jcm9072092
dc.identifier.eissn2077-0383
dc.identifier.urihttp://hdl.handle.net/10400.8/13969
dc.language.isoeng
dc.peerreviewedyes
dc.publisherMDPI
dc.relation.hasversionhttps://www.mdpi.com/2077-0383/9/7/2092
dc.relation.ispartofJournal of Clinical Medicine
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subjectcongenital disorder(s) of glycosylation (CDG)
dc.subjectPMM2-CDG
dc.subjectimmune response
dc.subjectinfections
dc.subjectallergies
dc.subjectvaccination
dc.subjectgastrointestinal tract (GI) e-questionnaire
dc.subjectpeople-centricity
dc.titleNew Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approacheng
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage30
oaire.citation.issue7
oaire.citation.startPage1
oaire.citation.titleJournal of Clinical Medicine
oaire.citation.volume9
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85
person.familyNameMarques da Silva
person.givenNameDorinda
person.identifier.orcid0000-0003-0460-5421
relation.isAuthorOfPublication475787c4-cf46-4b3b-96ec-a5278d5cc6f5
relation.isAuthorOfPublication.latestForDiscovery475787c4-cf46-4b3b-96ec-a5278d5cc6f5

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Congenital 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.
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