LEUCOCYTE ADHESION DEFICIENCY (LAD I & II)

LAD IS AN AUTOSOMAL RECESSIVE IMMUNODEFICIENCY DISORDER THAT AFFECTS THE LEUCOCYTE ADHESION PROCESS AND IS ASSOCIATED WITH RECURRENT BACTERIAL AND FUNGAL INFECTIONS. TWO FORMS OF LAD HAVE BEEN DESCRIBED. LAD-I IS ASSOCIATED WITH DEFECTIVE EXPRESSION OF CD18 BY NEUTROPHILS RESULTING FROM MUTATIONS IN THE INTEGRIN BETA-2 GENE (ITGB2), ENCODING CD18 OF BETA-2 INTEGRINS. LAD-II IS ASSOCIATED WITH DEFECTIVE EXPRESSION OF CD15S (SIALYL-LEWIS X) RESULTING FROM MUTATIONS IN THE GLUCOSE DIPHOSPHATE (GDP)-FUCOSE TRANSPORTER GENE. GENETIC TESTING FOR THE ITGB2 GENE (ASSOCIATED WITH LAD-I) IS RECOMMENDED TO VERIFY SPECIFIC MUTATION AND CONFIRM DIAGNOSIS WHILE PREPARING FOR HEMATOPOIETIC CELL TRANSPLANTATION (HCT).