CDG and immune response: From bedside to bench and back

Carlota Pascoal, Rita Francisco, Tiago Ferro, Vanessa dos Reis Ferreira, Jaak Jaeken, Paula A. Videira

Research output: Contribution to journalReview article

14 Citations (Scopus)
6 Downloads (Pure)


Glycosylation is an essential biological process that adds structural and functional diversity to cells and molecules, participating in physiological processes such as immunity. The immune response is driven and modulated by protein-attached glycans that mediate cell-cell interactions, pathogen recognition and cell activation. Therefore, abnormal glycosylation can be associated with deranged immune responses. Within human diseases presenting immunological defects are congenital disorders of glycosylation (CDG), a family of around 130 rare and complex genetic diseases. In this review, we have identified 23 CDG with immunological involvement, characterized by an increased propensity to—often life-threatening—infection. Inflammatory and autoimmune complications were found in 7 CDG types. CDG natural history(ies) and the mechanisms behind the immunological anomalies are still poorly understood. However, in some cases, alterations in pathogen recognition and intracellular signaling (eg, TGF-β1, NFAT, and NF-κB) have been suggested. Targeted therapies to restore immune defects are only available for PGM3-CDG and SLC35C1-CDG. Fostering research on glycoimmunology may elucidate the involved pathophysiological mechanisms and open new therapeutic avenues, thus improving CDG patients' quality of life.

Original languageEnglish
JournalJournal of Inherited Metabolic Disease
Publication statusPublished - 1 Jan 2019


  • autoimmune disease
  • congenital disorders of glycosylation
  • immune system
  • immunodeficiency
  • infection
  • inflammation

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