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

1999; Elsevier BV; Volume: 134; Issue: 6 Linguagem: Inglês

10.1016/s0022-3476(99)70281-7

1097-6833

Thorsten Marquardt, Thomas Brune, Kerstin Lühn, Klaus‐Peter Zimmer, Christian Körner, Larissa Fabritz, Natascha van der Werft, Josef Vormoor, Hudson H. Freeze, Frank Louwen, Bettina Biermann, E. Harms, Kurt Von Figura, Dietmar Vestweber, Hans Georg Koch,

Blood disorders and treatments

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.