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Journal of Inherited Metabolic Disease

Erschienen in:

08.07.2016 | Review

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

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

Erschienen in: Journal of Inherited Metabolic Disease | Ausgabe 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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Titel: Immunological aspects of congenital disorders of glycosylation (CDG): a review
verfasst von: Maria Monticelli
Tiago Ferro
Jaak Jaeken
Vanessa dos Reis Ferreira
Paula A. Videira
Publikationsdatum: 08.07.2016
Verlag: Springer Netherlands
Erschienen in: Journal of Inherited Metabolic Disease / Ausgabe 6/2016
Print ISSN: 0141-8955
Elektronische ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-016-9954-9

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