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Journal of Inherited Metabolic Disease
Published in: Journal of Inherited Metabolic Disease 6/2016

01-11-2016 | Review

Immunological aspects of congenital disorders of glycosylation (CDG): a review

Authors: Maria Monticelli, Tiago Ferro, Jaak Jaeken, Vanessa dos Reis Ferreira, Paula A. Videira

Published in: Journal of Inherited Metabolic Disease | Issue 6/2016

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Abstract

Congenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases comprising more than 85 known distinct disorders. They show a great phenotypic variability ranging from multi-organ/system to mono-organ/system involvement with very mild to extremely severe expression. Immunological dysfunction has a significant impact on the phenotype in a minority of CDG. CDG with major immunological involvement are ALG12-CDG, MAGT1-CDG, MOGS-CDG, SLC35C1-CDG and PGM3-CDG. This review discusses the variety of immunological abnormalities reported in human CDG. Understanding the immunological aspects of CDG may contribute to a better management/treatment of these pathologies and possibly of more common diseases, such as inflammatory diseases.
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Metadata
Title
Immunological aspects of congenital disorders of glycosylation (CDG): a review
Authors
Maria Monticelli
Tiago Ferro
Jaak Jaeken
Vanessa dos Reis Ferreira
Paula A. Videira
Publication date
01-11-2016
Publisher
Springer Netherlands
Published in
Journal of Inherited Metabolic Disease / Issue 6/2016
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI
https://doi.org/10.1007/s10545-016-9954-9

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