Title |
Immunological aspects of congenital disorders of glycosylation (CDG): a review
|
---|---|
Published in |
Journal of Inherited Metabolic Disease, July 2016
|
DOI | 10.1007/s10545-016-9954-9 |
Pubmed ID | |
Authors |
Maria Monticelli, Tiago Ferro, Jaak Jaeken, Vanessa dos Reis Ferreira, Paula A. Videira |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Poland | 2 | 40% |
Italy | 1 | 20% |
Unknown | 2 | 40% |
Demographic breakdown
Type | Count | As % |
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Scientists | 4 | 80% |
Members of the public | 1 | 20% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 69 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Master | 13 | 19% |
Student > Ph. D. Student | 10 | 14% |
Student > Bachelor | 8 | 12% |
Researcher | 7 | 10% |
Student > Postgraduate | 6 | 9% |
Other | 15 | 22% |
Unknown | 10 | 14% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 18 | 26% |
Medicine and Dentistry | 11 | 16% |
Agricultural and Biological Sciences | 6 | 9% |
Immunology and Microbiology | 6 | 9% |
Unspecified | 4 | 6% |
Other | 12 | 17% |
Unknown | 12 | 17% |