Immunological aspects of congenital disorders of glycosylation (CDG): a review.
J Inherit Metab Dis
; 39(6): 765-780, 2016 11.
Article
en En
| MEDLINE
| ID: mdl-27393411
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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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Trastornos Congénitos de Glicosilación
Límite:
Humans
Idioma:
En
Revista:
J Inherit Metab Dis
Año:
2016
Tipo del documento:
Article
País de afiliación:
Portugal