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.
Original language | English |
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Pages (from-to) | 681-8 |
Number of pages | 8 |
Journal | The Journal of pediatrics |
Volume | 134 |
Issue number | 6 |
Publication status | Published - Jun 1999 |
Keywords
- 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