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

Maria Monticelli, Tiago Ferro, Jaak Jaeken, Vanessa Dos Reis Ferreira, Paula Alexandra Videira

Research output: Contribution to journalArticle

21 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)765-780
Number of pages16
JournalJournal of Inherited Metabolic Disease
Volume39
Issue number6
DOIs
Publication statusAccepted/In press - 8 Jul 2016

Keywords

  • DEFICIENT GLYCOPROTEIN-SYNDROME
  • LEUKOCYTE-ADHESION-DEFICIENCY
  • SYNDROME TYPE-I
  • GDP-FUCOSE TRANSPORTER
  • SKELETAL DYSPLASIA
  • PHOSPHOMANNOMUTASE DEFICIENCY

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