title: Congenital disorder of glycosylation (CDG) Ig: report on a patient and review of the literature.
abstract: We report a new patient with CDG Ig and review the five other known patients. From the data on this small number of patients, it seems that the association of psychomotor retardation, male hypogenitalism and decreased serum IgG in a patient with a type 1 pattern of serum sialotransferrins might be a clue to the diagnosis of CDG Ig.
authors.affiliation: II Pediatric Unit, Gaslini Institute, Largo Gaslini 5, 16147 Genoa, Italy. majadirocco@ospedale-gaslini.ge.it
authors.forename: M
authors.initials: M
authors.lastname: Di Rocco
authors.forename: T
authors.initials: T
authors.lastname: Hennet
authors.forename: C E
authors.initials: CE
authors.lastname: Grubenmann
authors.forename: S
authors.initials: S
authors.lastname: Pagliardini
authors.forename: A E M
authors.initials: AE
authors.lastname: Allegri
authors.forename: C G
authors.initials: CG
authors.lastname: Frank
authors.forename: M
authors.initials: M
authors.lastname: Aebi
authors.forename: S
authors.initials: S
authors.lastname: Vignola
authors.forename: J
authors.initials: J
authors.lastname: Jaeken
mesh_terms: D001921:Brain / Q000473:pathology; D002239:Carbohydrate Metabolism, Inborn Errors / Q000097:blood / Q000175:diagnosis* / Q000473:pathology*; D002675:Child, Preschool; D005260:Female; D006720:Homozygote; D006801:Humans; D007074:Immunoglobulin G / Q000097:blood; D008279:Magnetic Resonance Imaging; D008297:Male; D008364:Mannosyltransferases / Q000172:deficiency*; D011596:Psychomotor Disorders / Q000175:diagnosis; D012795:Sialoglycoproteins / Q000097:blood; D014168:Transferrin / Q000096:biosynthesis; D014564:Urogenital Abnormalities / Q000175:diagnosis
chemical_list: D007074:Immunoglobulin G; D012795:Sialoglycoproteins; D014168:Transferrin; D008364:Mannosyltransferases; C474311:dolichyl-phosphate mannose Man(7)GlcNAc(2)-PP-dolichyl mannosyltransferase