Defective intracellular activity of GDP-d-mannose-4,6-dehydratase in leukocyte adhesion deficiency type II syndrome
نویسندگان
چکیده
منابع مشابه
Leukocyte Adhesion Deficiency Type 1 Presenting as Leukemoid Reaction
The hallmarks of leukocyte adhesion deficiency (LAD) are defects in the leukocyte adhesion process, marked leukocytosis and recurrent infections. These molecular and clinical manifestations result from an impaired step in the inflammatory process, namely, the emigration of leukocytes from the blood vessels to sites of infection, which requires adhesion of leukocytes to the endothelium. Over las...
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Leukocyte adhesion deficiency type 1 (LAD-1) is a rare, inherited immunodeficiency that affects one per million people yearly and usually presents with recurrent, indolent bacterial infections of the skin, mouth, and respiratory tract and impaired pus formation and wound healing. A 13-year-old girl diagnosed LAD-I at the age of 7 years was brought to the Immunology, Asthma and Allergy Research ...
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...
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Fucosylation is a crucial oligosaccharide modification in cancer. The known function of fucosylation in cancer is to mediate metastasis through selectin ligand-dependent processes. Previously, we found complete loss of fucosylation in the colon cancer cell line HCT116 due to a mutation in the GDP-fucose synthetic enzyme, GDP-mannose-4,6-dehydratase (GMDS). Loss of fucosylation led to escape of ...
متن کاملLeukocyte 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...
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ژورنال
عنوان ژورنال: FEBS Letters
سال: 1998
ISSN: 0014-5793
DOI: 10.1016/s0014-5793(98)00615-2