Description: Leukocyte Adhesion Deficiency (LAD) is a group of very rare genetic disorders that occur when a patient's white blood cells or leukocytes are unable to produce a protein that helps them attach to the inner surface of a blood vessel. This site is focused on providing information about LAD Type II.
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To date, only a few hundred incidents of LAD have been identified worldwide, though the actual number of existing cases may be significantly greater due to the medical community's current lack of familiarity with LAD types, leaving many patients with either a misdiagnosis, or no diagnosis at all.
There are several types of LAD; this site is focused on providing information about LAD Type II. [1]
Leukocyte Adhesion Deficiency Type II (LAD II) (OMIM # 266265) is an autosomal recessive primary immunodeficiency characterized by impaired leukocyte motility and moderate to severe neurodevelopmental retardation. The genetic defect in LAD II patients has been shown to be various mutations in SLC35C1 gene which encodes for GDP-Fucose Transporter 1. This transporter mediates GDP-Fucose uptake into Golgi vesicles, and its dysfunction results in the absence of fucosylated glycans on the membranes of cells, lea