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

Lookup NU author(s): Professor Hermann Josef Vormoor

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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.

Publication metadata

Author(s): Marquardt T, Brune T, Lühn K, Zimmer KP, Körner C, Fabritz L, van der Werft N, Vormoor J, Freeze HH, Louwen F, Biermann B, Harms E, von Figura K, Vestweber D, Koch HG

Publication type: Article

Publication status: Published

Journal: Journal of Pediatrics

Year: 1999

Volume: 134

Issue: 6

Pages: 681-688

Print publication date: 01/06/1999

ISSN (print): 0022-3476

ISSN (electronic): 1097-6833

URL: http://dx.doi.org/10.1016/S0022-3476(99)70281-7

DOI: 10.1016/S0022-3476(99)70281-7

Notes: 0022-3476 (Print) Case Reports Journal Article

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