title: Immunological aspects of congenital disorders of glycosylation (CDG): a review.
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.
authors.affiliation: Centro de Estudos de Doenças Crónicas, CEDOC, NOVA Medical School / Faculdade de Ciências Médicas, Universidade NOVA de Lisboa, Lisbon, Portugal.|Dipartimento di Biologia, Università degli Studi di Napoli "Federico II", Naples, Italy.
authors.forename: Maria
authors.initials: M
authors.lastname: Monticelli
authors.affiliation: Centro de Estudos de Doenças Crónicas, CEDOC, NOVA Medical School / Faculdade de Ciências Médicas, Universidade NOVA de Lisboa, Lisbon, Portugal.|UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Portugal.
authors.forename: Tiago
authors.initials: T
authors.lastname: Ferro
authors.affiliation: CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies - PPAIN), Caparica, Portugal.|Center for Metabolic Disease, KU Leuven, Leuven, Belgium.
authors.forename: Jaak
authors.initials: J
authors.lastname: Jaeken
authors.affiliation: Portuguese Association for Congenital Disorders of Glycosylation (CDG), Lisbon, Portugal. sindromecdg@gmail.com.|CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies - PPAIN), Caparica, Portugal. sindromecdg@gmail.com.
authors.forename: Vanessa
authors.initials: V
authors.lastname: Dos Reis Ferreira
authors.affiliation: Centro de Estudos de Doenças Crónicas, CEDOC, NOVA Medical School / Faculdade de Ciências Médicas, Universidade NOVA de Lisboa, Lisbon, Portugal. p.videira@fct.unl.pt.|UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Portugal. p.videira@fct.unl.pt.|CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies - PPAIN), Caparica, Portugal. p.videira@fct.unl.pt.
authors.forename: Paula A
authors.initials: PA
authors.lastname: Videira
mesh_terms: D018981:Congenital Disorders of Glycosylation / Q000235:genetics* / Q000276:immunology*; D006801:Humans; D007249:Inflammation / Q000235:genetics / Q000276:immunology; D010641:Phenotype