New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach
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...
Main Authors: | , , , , , , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
MDPI AG
2020-07-01
|
Series: | Journal of Clinical Medicine |
Subjects: | |
Online Access: | https://www.mdpi.com/2077-0383/9/7/2092 |
id |
doaj-5e0b72249e28451599ef822d07b22190 |
---|---|
record_format |
Article |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Rita Francisco Carlota Pascoal Dorinda Marques-da-Silva Sandra Brasil Fernando M. Pimentel-Santos Ruqaiah Altassan Jaak Jaeken Ana Rita Grosso Vanessa dos Reis Ferreira Paula A. Videira |
spellingShingle |
Rita Francisco Carlota Pascoal Dorinda Marques-da-Silva Sandra Brasil Fernando M. Pimentel-Santos Ruqaiah Altassan Jaak Jaeken Ana Rita Grosso Vanessa dos Reis Ferreira Paula A. Videira New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach Journal of Clinical Medicine congenital disorder(s) of glycosylation (CDG) PMM2-CDG immune response infections allergies vaccination |
author_facet |
Rita Francisco Carlota Pascoal Dorinda Marques-da-Silva Sandra Brasil Fernando M. Pimentel-Santos Ruqaiah Altassan Jaak Jaeken Ana Rita Grosso Vanessa dos Reis Ferreira Paula A. Videira |
author_sort |
Rita Francisco |
title |
New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach |
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 |
publisher |
MDPI AG |
series |
Journal of Clinical Medicine |
issn |
2077-0383 |
publishDate |
2020-07-01 |
description |
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 (<i>n</i> = 122/209). About half of these participants (<i>n</i> = 65/122) described relevant infections with a noteworthy prevalence of those affecting the gastrointestinal tract (GI) (63.1%, <i>n</i> = 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%, <i>n</i> = 3/122), all being GI-related. Allergy prevalence was also low in PMM2-CDG (33%, <i>n</i> = 41/122) except for food allergies (26.8%, <i>n</i> = 11/41, of PMM2-CDG and 10.8%, <i>n</i> = 17/158, of controls). High vaccination compliance with greater perceived ineffectiveness (28.3%, <i>n</i> = 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. |
topic |
congenital disorder(s) of glycosylation (CDG) PMM2-CDG immune response infections allergies vaccination |
url |
https://www.mdpi.com/2077-0383/9/7/2092 |
work_keys_str_mv |
AT ritafrancisco newinsightsintoimmunologicalinvolvementincongenitaldisordersofglycosylationcdgfromapeoplecentricapproach AT carlotapascoal newinsightsintoimmunologicalinvolvementincongenitaldisordersofglycosylationcdgfromapeoplecentricapproach AT dorindamarquesdasilva newinsightsintoimmunologicalinvolvementincongenitaldisordersofglycosylationcdgfromapeoplecentricapproach AT sandrabrasil newinsightsintoimmunologicalinvolvementincongenitaldisordersofglycosylationcdgfromapeoplecentricapproach AT fernandompimentelsantos newinsightsintoimmunologicalinvolvementincongenitaldisordersofglycosylationcdgfromapeoplecentricapproach AT ruqaiahaltassan newinsightsintoimmunologicalinvolvementincongenitaldisordersofglycosylationcdgfromapeoplecentricapproach AT jaakjaeken newinsightsintoimmunologicalinvolvementincongenitaldisordersofglycosylationcdgfromapeoplecentricapproach AT anaritagrosso newinsightsintoimmunologicalinvolvementincongenitaldisordersofglycosylationcdgfromapeoplecentricapproach AT vanessadosreisferreira newinsightsintoimmunologicalinvolvementincongenitaldisordersofglycosylationcdgfromapeoplecentricapproach AT paulaavideira newinsightsintoimmunologicalinvolvementincongenitaldisordersofglycosylationcdgfromapeoplecentricapproach |
_version_ |
1724487945289728000 |
spelling |
doaj-5e0b72249e28451599ef822d07b221902020-11-25T03:51:25ZengMDPI AGJournal of Clinical Medicine2077-03832020-07-0192092209210.3390/jcm9072092New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric ApproachRita Francisco0Carlota Pascoal1Dorinda Marques-da-Silva2Sandra Brasil3Fernando M. Pimentel-Santos4Ruqaiah Altassan5Jaak Jaeken6Ana Rita Grosso7Vanessa dos Reis Ferreira8Paula A. Videira9CDG & 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, PortugalCDG & 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, PortugalCDG & 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, PortugalCDG & 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, PortugalCDG & 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, PortugalDepartment of Medical Genetic, King Faisal Specialist Hospital and Research Center, Riyadh 12713, Saudi Arabia <email>ruqaiah.altassan@mail.mcgill.ca</email>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, PortugalUCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa Caparica, Caparica, 2825-149 Lisbon, PortugalCDG & 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, PortugalCDG & 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, PortugalCongenital 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 (<i>n</i> = 122/209). About half of these participants (<i>n</i> = 65/122) described relevant infections with a noteworthy prevalence of those affecting the gastrointestinal tract (GI) (63.1%, <i>n</i> = 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%, <i>n</i> = 3/122), all being GI-related. Allergy prevalence was also low in PMM2-CDG (33%, <i>n</i> = 41/122) except for food allergies (26.8%, <i>n</i> = 11/41, of PMM2-CDG and 10.8%, <i>n</i> = 17/158, of controls). High vaccination compliance with greater perceived ineffectiveness (28.3%, <i>n</i> = 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.https://www.mdpi.com/2077-0383/9/7/2092congenital disorder(s) of glycosylation (CDG)PMM2-CDGimmune responseinfectionsallergiesvaccination |