Leukocyte adhesion deficiency II syndrome, a generalized defect in fucose metabolism
نویسندگان
چکیده
منابع مشابه
Leukocyte adhesion deficiency II patients with a dual defect of the GDP-fucose transporter.
Leukocyte adhesion deficiency II (LAD II) is a rare congenital disease caused by defective fucosylation leading to immuno-deficiency and psychomotor retardation. We have previously identified the genetic defect of LAD II in a patient whose Golgi GDP-fucose transporter (GFTP) bears a single amino acid exchange that renders this protein nonfunctional but correctly localized to the Golgi. We now r...
متن کاملCorrection of leukocyte adhesion deficiency type II with oral fucose.
We describe a simple, noninvasive, and effective therapy for leukocyte adhesion deficiency type II (LAD II), a rare inherited disorder of fucose metabolism. This disorder leads to an immunodeficiency caused by the absence of carbohydrate-based selectin ligands on the surface of neutrophils as well as to severe psychomotor and mental retardation. The fucosylation defect in LAD II fibroblasts can...
متن کاملLeukocyte Adhesion Deficiency Type II is a generalized defect of de novo GDP-fucose biosynthesis. Endothelial cell fucosylation is not required for neutrophil rolling on human nonlymphoid endothelium.
Leukocyte Adhesion Deficiency Type II (LAD II) is a recently described syndrome and the two patients with this defect lack fucosylated glycoconjugates. These glycoconjugates include the selectin ligand, sialyl LewisX, and various fucosylated blood group antigens. To date, the molecular anomaly in these patients has not been identified. We localized the defect in LAD II to the de novo pathway of...
متن کاملLeukocyte adhesion deficiency syndrome: a controversy solved.
Sadly, mistakes of nature are often our greatest learning tools. Such is the case with the recent description by three independent groups of the molecular etiology of leukocyte adhesion deficiency (LAD) syndrome III.1–3 The discovery that mutations in kindlin-3 are responsible for this rare genetic disorder teaches us a great deal about how leukocytes regulate adhesion and trafficking through t...
متن کاملPLENARY PAPER Correction of Leukocyte Adhesion Deficiency Type II With Oral Fucose
We describe a simple, noninvasive, and effective therapy for leukocyte adhesion deficiency type II (LAD II), a rare inherited disorder of fucose metabolism. This disorder leads to an immunodeficiency caused by the absence of carbohydratebased selectin ligands on the surface of neutrophils as well as to severe psychomotor and mental retardation. The fucosylation defect in LAD II fibroblasts can ...
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ژورنال
عنوان ژورنال: The Journal of Pediatrics
سال: 1999
ISSN: 0022-3476
DOI: 10.1016/s0022-3476(99)70281-7