TY - JOUR
T1 - Immunological aspects of congenital disorders of glycosylation (CDG)
T2 - a review
AU - Monticelli, Maria
AU - Ferro, Tiago
AU - Jaeken, Jaak
AU - dos Reis Ferreira, Vanessa
AU - Videira, Paula A.
N1 - Sem pdf conforme despacho.
Fundacao para a Ciencia e Tecnologia (PD/BD/52472/2014)
PY - 2016/11
Y1 - 2016/11
N2 - 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.
AB - 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.
KW - DEFICIENT GLYCOPROTEIN-SYNDROME
KW - LEUKOCYTE-ADHESION-DEFICIENCY
KW - SYNDROME TYPE-I
KW - GDP-FUCOSE TRANSPORTER
KW - SKELETAL DYSPLASIA
KW - PHOSPHOMANNOMUTASE DEFICIENCY
UR - http://www.scopus.com/inward/record.url?scp=84978113399&partnerID=8YFLogxK
U2 - 10.1007/s10545-016-9954-9
DO - 10.1007/s10545-016-9954-9
M3 - Article
C2 - 27393411
AN - SCOPUS:84978113399
SN - 0141-8955
VL - 39
SP - 765
EP - 780
JO - Journal of Inherited Metabolic Disease
JF - Journal of Inherited Metabolic Disease
IS - 6
ER -