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Open AccessArticle

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

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CDG & Allies—Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, 2825-149 Lisbon, Portugal
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UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa Caparica, Caparica, 2825-149 Lisbon, Portugal
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Portuguese Association for Congenital Disorders of Glycosylation (CDG), Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, 2825-149 Lisbon, Portugal
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School of Technology and Management, Polytechnic Institute of Leiria, 2411-901 Leiria, Portugal
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CEDOC, Faculdade de Medicina, Universidade NOVA de Lisboa, Campus Hospital Egas Moniz, 1349-019 Lisbon, Portugal
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Department of Medical Genetic, King Faisal Specialist Hospital and Research Center, Riyadh 12713, Saudi Arabia
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Center for Metabolic Diseases, Department of Pediatrics, KU Leuven, 3000 Leuven, Belgium
*
Author to whom correspondence should be addressed.
J. Clin. Med. 2020, 9(7), 2092; https://doi.org/10.3390/jcm9072092
Received: 28 May 2020 / Revised: 27 June 2020 / Accepted: 28 June 2020 / Published: 3 July 2020
(This article belongs to the Special Issue Glycosylation Modification in Immune Diseases)
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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Keywords: congenital disorder(s) of glycosylation (CDG); PMM2-CDG; immune response; infections; allergies; vaccination; gastrointestinal tract (GI), e-questionnaire; people-centricity congenital disorder(s) of glycosylation (CDG); PMM2-CDG; immune response; infections; allergies; vaccination; gastrointestinal tract (GI), e-questionnaire; people-centricity
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Francisco, 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. New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach. J. Clin. Med. 2020, 9, 2092.

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