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

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• 作者：Maria Monticelli ; Tiago Ferro ; Jaak Jaeken…
• 刊名：Journal of Inherited Metabolic Disease
• 出版年：2016
• 出版时间：November 2016
• 年：2016
• 卷：39
• 期：6
• 页码：765-780
• 全文大小：1,541 KB
• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Internal Medicine
  Metabolic Diseases
  Human Genetics
  Biochemistry
  Pediatrics
  
• 出版者：Springer Netherlands
• ISSN：1573-2665
• 卷排序：39

文摘

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.