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

Leukocyte adhesion deficiency II has been described in only 2 patients; her ein we report extensive investigation of another patient. The physical stig mata were detected during prenatal ultrasonographic investigation. Sialyl-L ewis X (sLe(X)) was absent from the surface of polymorphonuclear neutrophil s, and cell binding to E- and P-selectin was severely impaired, causing an immunodeficiency. The elevation of peripheral neutrophil counts occurred wi thin 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 o nly a disorder of leukocytes but a generalized inherited metabolic disease affecting the metabolism of fucose.