期刊
JOURNAL OF INHERITED METABOLIC DISEASE
卷 39, 期 6, 页码 765-780出版社
WILEY
DOI: 10.1007/s10545-016-9954-9
关键词
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资金
- CDG-Professionals and Patients Association International Network (CDG-PPAIN)
- Liliana Fellowship
- Fundacao para a Ciencia e Tecnologia [PD/BD/52472/2014]
- Fundação para a Ciência e a Tecnologia [PD/BD/52472/2014] Funding Source: FCT
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 monoorgan/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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