Leukocyte adhesion deficiency II syndrome, a generalized defect in fucose metabolism
T Marquardt, T Brune, K Lühn, KP Zimmer… - The Journal of …, 1999 - Elsevier
The Journal of pediatrics, 1999•Elsevier
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 …
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 …
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. (J Pediatr 1999;134:681-8)
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