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Immunological aspects of congenital disorders of glycosylation (CDG): a review
Author(s) -
Monticelli Maria,
Ferro Tiago,
Jaeken Jaak,
Reis Ferreira Vanessa,
Videira Paula A.
Publication year - 2016
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-016-9954-9
Subject(s) - phenotype , glycosylation , biology , immunology , clinical phenotype , human genetics , bioinformatics , medicine , genetics , gene
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.