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Leukocyte adhesion deficiency type II.

D J Becker1, J B Lowe

  • 1Cellular and Molecular Biology Program, Howard Hughes Medical Institute, Department of Pathology, University of Michigan Medical School, Ann Arbor 48109-0650, USA.

Biochimica Et Biophysica Acta
|November 26, 1999
PubMed
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Leukocyte adhesion deficiency type II (LAD II) is a rare genetic disorder impacting neutrophil function and causing severe developmental issues. The exact genetic cause of this widespread fucosylation defect remains unknown.

Area of Science:

  • Biochemistry
  • Immunology
  • Genetics

Background:

  • Leukocyte adhesion deficiency type II (LAD II) is a rare disorder.
  • Characterized by recurrent infections, persistent leukocytosis, and severe mental and growth retardation.
  • LAD II neutrophils show deficient selectin ligand activity, impairing endothelial rolling and inflammatory site trafficking.

Purpose of the Study:

  • To investigate the molecular defect in Leukocyte Adhesion Deficiency type II (LAD II).
  • To understand the cause of generalized fucosylation defects in LAD II patients.

Main Methods:

  • Analysis of fucosylated glycan structures on LAD II neutrophils.
  • Assessment of fucosyltransferase activities.
  • Localization of the defect to the GDP-fucose biosynthetic pathway.

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Main Results:

  • LAD II patients exhibit deficiencies in cell surface fucosylated glycans, including H, Lewis blood group determinants, and sialyl Lewis x.
  • Fucosyltransferase activities are expressed at normal levels in LAD II patients.
  • The molecular defect is localized to the GDP-fucose synthesis pathway from GDP-mannose.

Conclusions:

  • The genetic lesion causing the generalized fucosylation defect in LAD II remains to be identified.
  • Further research is needed to determine the specific genetic cause of LAD II.