[HTML][HTML] Leukocyte adhesion deficiency type II

DJ Becker, JB Lowe - Biochimica et Biophysica Acta (BBA)-Molecular Basis …, 1999 - Elsevier
DJ Becker, JB Lowe
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease, 1999Elsevier
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 are deficient in expression of selectin ligand activity, and exhibit a
correspondingly diminished ability to roll on endothelium and to traffic to inflammatory sites
in vivo. LAD II patients exhibit a deficiency in the expression of cell surface fucosylated
glycan structures that include the H and Lewis blood group determinants and the sialyl …
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 are deficient in expression of selectin ligand activity, and exhibit a correspondingly diminished ability to roll on endothelium and to traffic to inflammatory sites in vivo. LAD II patients exhibit a deficiency in the expression of cell surface fucosylated glycan structures that include the H and Lewis blood group determinants and the sialyl Lewis x epitope, yet the corresponding fucosyltransferase activities responsible for synthesis of these structures are expressed at normal levels. The molecular defect in LAD II has been localized to the pathway that synthesizes GDP-fucose from GDP-mannose. However, the two known component enzymes in this GDP-fucose biosynthetic pathway are normal in sequence and in expression levels in LAD II cells. The genetic lesion in LAD II that accounts for the generalized fucosylation defect in LAD II patients remains to be determined.
Elsevier