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.
Immunological aspects of congenital disorders of glycosylation (CDG): a review / Monticelli, Maria; Ferro, Tiago; Jaeken, Jaak; Dos Reis Ferreira, Vanessa; Videira, Paula A. - In: JOURNAL OF INHERITED METABOLIC DISEASE. - ISSN 1573-2665. - 39:6(2016), pp. 765-780. [10.1007/s10545-016-9954-9]
Immunological aspects of congenital disorders of glycosylation (CDG): a review
Monticelli, MariaPrimo
;
2016
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.File | Dimensione | Formato | |
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