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

• Published in: The Journal of pediatrics 1999-06, Vol.134 (6), p.681-688
• Main Authors: Marquardt, Thorsten, Brune, Thomas, Lühn, Kerstin, Zimmer, Klaus-Peter, Körner, Christian, Fabritz, Larissa, van der Werft, Natascha, Vormoor, Josef, Freeze, Hudson H., Louwen, Frank, Biermann, Bettina, Harms, Eric, von Figura, Kurt, Vestweber, Dietmar, Koch, Hans Georg
• Format: Article
• Language: English
• Subjects: Biological and medical sciences; C-Reactive Protein - analysis; Carbohydrate Metabolism, Inborn Errors - metabolism; Carbohydrates (enzymatic deficiencies). Glycogenosis; Chromatography, Affinity; E-Selectin - metabolism; Errors of metabolism; Fetal Growth Retardation - diagnostic imaging; Fucose - metabolism; Humans; Infant; Leukocyte Count; Leukocyte-Adhesion Deficiency Syndrome - blood; Leukocyte-Adhesion Deficiency Syndrome - diagnostic imaging; Leukocyte-Adhesion Deficiency Syndrome - metabolism; Lewis X Antigen - analysis; Male; Medical sciences; Metabolic diseases; Neutrophils - immunology; P-Selectin - metabolism; Pedigree; Ultrasonography, Prenatal
• ISSN: 0022-3476; 1097-6833
• DOI: 10.1016/S0022-3476(99)70281-7

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 (sLe x) 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. (J Pediatr 1999;134:681-8)