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

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

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)