Leukocyte adhesion deficiency II syndrome, a generalized defect in fucose metabolism.

Journal article

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: Marquardt, T; Brune, T; Lühn, K; Zimmer, K; Körner, C

• Publication status: Published
• Journal: Journal of pediatrics
• Volume: 134
• Issue: 6
• Pages: 681-688
• Publication date: 1999-06-01
• DOI: 10.1016/s0022-3476(99)70281-7
• EISSN: 1097-6833
• ISSN: 0022-3476
• Language: English
• Keywords: Neutrophils; Humans; Chromatography, Affinity; P-Selectin; Fetal Growth Retardation; Ultrasonography, Prenatal; Leukocyte Count; Carbohydrate Metabolism, Inborn Errors; Infant; Leukocyte-Adhesion Deficiency Syndrome; Pedigree; E-Selectin; C-Reactive Protein; Male; Antigens, CD15; Fucose