Details

Autor(en) / Beteiligte

• Monticelli, Maria
• Ferro, Tiago
• Jaeken, Jaak
• dos Reis Ferreira, Vanessa
• Videira, Paula A.

Titel

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

Ist Teil von

• Journal of Inherited Metabolic Disease, 2016-11, Vol.39 (6), p.765-780

Ort / Verlag

Dordrecht: Springer Netherlands

Erscheinungsjahr

2016

Quelle

Wiley-Blackwell Journals

Beschreibungen/Notizen

• 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.