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

J Pediatr. 1999 Jun;134(6):681-8. doi: 10.1016/s0022-3476(99)70281-7.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • C-Reactive Protein / analysis
  • Carbohydrate Metabolism, Inborn Errors / metabolism*
  • Chromatography, Affinity
  • E-Selectin / metabolism
  • Fetal Growth Retardation / diagnostic imaging
  • Fucose / metabolism*
  • Humans
  • Infant
  • Leukocyte Count
  • Leukocyte-Adhesion Deficiency Syndrome / blood
  • Leukocyte-Adhesion Deficiency Syndrome / diagnostic imaging
  • Leukocyte-Adhesion Deficiency Syndrome / metabolism*
  • Lewis X Antigen / analysis
  • Male
  • Neutrophils / immunology
  • P-Selectin / metabolism
  • Pedigree
  • Ultrasonography, Prenatal

Substances

  • E-Selectin
  • Lewis X Antigen
  • P-Selectin
  • Fucose
  • C-Reactive Protein