title: Leukocyte adhesion deficiency II syndrome, a generalized defect in fucose metabolism.
abstract: Leukocyte adhesion deficiency II has been described in only 2 patients; herein we report extensive investigation of another patient. The physical stigmata were detected during prenatal ultrasonographic investigation. Sialyl-Lewis X (sLex) was absent from the surface of polymorphonuclear neutrophils, and cell binding to E- and P-selectin was severely impaired, causing an immunodeficiency. The elevation of peripheral neutrophil counts occurred within several days after birth. A severe hypofucosylation of glycoconjugates bearing fucose in different glycosidic links was present in all cell types investigated, demonstrating that leukocyte adhesion deficiency II is not only a disorder of leukocytes but a generalized inherited metabolic disease affecting the metabolism of fucose.
authors.affiliation: Klinik und Poliklinik für Kinderheilkunde, Münster, Germany.
authors.forename: T
authors.initials: T
authors.lastname: Marquardt
authors.forename: T
authors.initials: T
authors.lastname: Brune
authors.forename: K
authors.initials: K
authors.lastname: Lühn
authors.forename: K P
authors.initials: KP
authors.lastname: Zimmer
authors.forename: C
authors.initials: C
authors.lastname: Körner
authors.forename: L
authors.initials: L
authors.lastname: Fabritz
authors.forename: N
authors.initials: N
authors.lastname: van der Werft
authors.forename: J
authors.initials: J
authors.lastname: Vormoor
authors.forename: H H
authors.initials: HH
authors.lastname: Freeze
authors.forename: F
authors.initials: F
authors.lastname: Louwen
authors.forename: B
authors.initials: B
authors.lastname: Biermann
authors.forename: E
authors.initials: E
authors.lastname: Harms
authors.forename: K
authors.initials: K
authors.lastname: von Figura
authors.forename: D
authors.initials: D
authors.lastname: Vestweber
authors.forename: H G
authors.initials: HG
authors.lastname: Koch
mesh_terms: D002097:C-Reactive Protein / Q000032:analysis; D002239:Carbohydrate Metabolism, Inborn Errors / Q000378:metabolism*; D002846:Chromatography, Affinity; D019040:E-Selectin / Q000378:metabolism; D005317:Fetal Growth Retardation / Q000000981:diagnostic imaging; D005643:Fucose / Q000378:metabolism*; D006801:Humans; D007223:Infant; D007958:Leukocyte Count; D018370:Leukocyte-Adhesion Deficiency Syndrome / Q000097:blood / Q000000981:diagnostic imaging / Q000378:metabolism*; D016256:Lewis X Antigen / Q000032:analysis; D008297:Male; D009504:Neutrophils / Q000276:immunology; D019007:P-Selectin / Q000378:metabolism; D010375:Pedigree; D016216:Ultrasonography, Prenatal
chemical_list: D019040:E-Selectin; D016256:Lewis X Antigen; D019007:P-Selectin; D005643:Fucose; D002097:C-Reactive Protein