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 Blood, 15 May 2006, Vol. 107, No. 10, pp. 3959-3966.
Prepublished online as a Blood First Edition Paper on February 2, 2006; DOI 10.1182/blood-2005-08-3334.

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IMMUNOBIOLOGY

Leukocyte adhesion deficiency II patients with a dual defect of the GDP-fucose transporter

Yvonne Helmus, Jonas Denecke, Sviatlana Yakubenia, Peter Robinson, Kerstin Lühn, Diana L. Watson, Paraic J. McGrogan, Dietmar Vestweber, Thorsten Marquardt, and Martin K. Wild

From the Max Planck Institute of Molecular Biomedicine and Institute of Cell Biology, Zentrum für Molekularbiologie der Entzündung (ZMBE), University of Münster, Münster, Germany; Department of Pediatrics, University Hospital of Münster, Münster, Germany; and Yorkhill National Health Service (NHS) Trust, Royal Hospital for Sick Children, Glasgow, United Kingdom.

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 report a novel dual defect by which a truncated GFTP causes the disease in a new LAD II patient. We show that the truncation renders this GFTP unable to localize to the Golgi, the compartment where it is required. Furthermore, the missing part of the GFTP can be dissected into 2 regions, one that is needed for Golgi localization and one that is additionally required for the function of the GFTP. We investigated the subcellular localization of all known defective GFTPs allowing us to divide all genetically analyzed LAD II patients into 2 groups, one in which single amino acid exchanges in the GFTP impair its function but not its subcellular localization, and another group with a dual defect in function and Golgi expression of the GFTP due to the absence of 2 important molecular regions.


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