Journal of Inherited Metabolic Disease

, Volume 39, Issue 6, pp 765–780 | Cite as

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

  • Maria Monticelli
  • Tiago Ferro
  • Jaak Jaeken
  • Vanessa dos Reis FerreiraEmail author
  • Paula A. VideiraEmail author


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.


Sialic Acid GlcNAc Galactosemia Chronic Recurrent Multifocal Osteomyelitis Leukocyte Adhesion Deficiency 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.





Congenital disorder(s) of glycosylation


Cluster of differentiation


Epstein-Barr virus


Endoplasmic reticulum




Guanosine diphosphate








Hematopoietic stem cell transplantation


Isoelectric focusing








Natural killer


Natural killer activating receptor group 2, member D


Sialyl-Lewis X




T cell receptor




Toll like receptor


Uridine diphosphate


X-linked immunodeficiency with magnesium defect and EBV infection and neoplasia



This work was supported by the CDG-Professionals and Patients Association International Network (CDG- PPAIN) and Liliana Fellowship awarded to M. Monticelli. T. Ferro acknowledges Fundação para a Ciência e Tecnologia for the grant PD/BD/52472/2014 awarded to him.

Compliance with ethics guidelines

Conflict of interests

Vanessa dos Reis Ferreira is President and founder of the Portuguese Association for CDG and other Rare Metabolic Diseases (APCDG-DMR). All other authors declare no competing financial interests.


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© SSIEM 2016

Authors and Affiliations

  • Maria Monticelli
    • 1
    • 2
  • Tiago Ferro
    • 1
    • 3
  • Jaak Jaeken
    • 5
    • 6
  • Vanessa dos Reis Ferreira
    • 4
    • 5
    Email author
  • Paula A. Videira
    • 1
    • 3
    • 5
    Email author
  1. 1.Centro de Estudos de Doenças Crónicas, CEDOC, NOVA Medical School / Faculdade de Ciências MédicasUniversidade NOVA de LisboaLisbonPortugal
  2. 2.Dipartimento di BiologiaUniversità degli Studi di Napoli “Federico II”NaplesItaly
  3. 3.UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e TecnologiaUniversidade NOVA de LisboaCaparicaPortugal
  4. 4.Portuguese Association for Congenital Disorders of Glycosylation (CDG)LisbonPortugal
  5. 5.CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies - PPAIN)CaparicaPortugal
  6. 6.Center for Metabolic DiseaseKU LeuvenLeuvenBelgium

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