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

T Marquardt, T Brune, K Lühn, K P Zimmer, C Körner, L Fabritz, N van der Werft, J Vormoor, H H Freeze, F Louwen, B Biermann, E Harms, K von Figura, D Vestweber, H G Koch

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100 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)681-8
Number of pages8
JournalThe Journal of pediatrics
Issue number6
Publication statusPublished - Jun 1999


  • Antigens, CD15
  • C-Reactive Protein
  • Carbohydrate Metabolism, Inborn Errors
  • Chromatography, Affinity
  • E-Selectin
  • Fetal Growth Retardation
  • Fucose
  • Humans
  • Infant
  • Leukocyte Count
  • Leukocyte-Adhesion Deficiency Syndrome
  • Male
  • Neutrophils
  • P-Selectin
  • Pedigree
  • Ultrasonography, Prenatal


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