lewis-x-antigen and Leukocytosis

Leucocyte adhesion deficiency (LAD) is a rare, innate autosomal recessive immunodeficiency with three subtypes. Twenty-nine patients with LADs were diagnosed and treated in Israeli Medical Centers and in the Palestinian Authority. We discuss the phenotypic, genotypic and biochemical features of LAD-I, LAD-II and LAD-III diagnosed during the neonatal period and early infancy in 18, 6 and 5 patients, respectively. Consanguinity was frequent. Common features were severe infections of variable aetiology, excessive leukocytosis and delayed umbilical cord detachment. In LAD-I, the integrin CD18 expression varied from negligible to normal. However, CD11a expression was negligible in all tested patients, suggesting both CD11a and CD18 should be used to assess this subtype. LAD-II patients showed distinctive facial features, physical malformations, short stature and developmental delay. These patients show defective expression of SLeX (CD15a) on cell surface glycoproteins and lack of H antigen on erythroid cell surfaces resulting in Bombay blood group (hh). LAD-III showed intact but inactive β

Topics: Antigens, Bacterial; Bacterial Infections; CD11 Antigens; CD18 Antigens; Cell Adhesion; Chemotaxis; Consanguinity; Erythroid Cells; Female; Humans; Infant; Infant, Newborn; Leukocyte-Adhesion Deficiency Syndrome; Leukocytosis; Lewis X Antigen; Male; Membrane Glycoproteins; Mutation; Mycoses; Neutrophils; Retrospective Studies; Treatment Outcome