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Abstract
Leukocyte adhesion deficiency (LAD) is a heritable disease involving deficient expression
of three related leukocyte adhesion glycoproteins: LFA-1, Mac-1, and p150,95. These
proteins are alpha beta heterodimers containing identical 95,000 dalton beta subunits.
Here we demonstrate that the primary defect in LAD is in the beta subunit gene. We
identified five distinct beta subunit phenotypes in LAD patients: undetectable beta
subunit mRNA and protein precursor; low levels of beta subunit mRNA and precursor;
an aberrantly large beta subunit precursor, probably due to an extra glycosylation
site; an aberrantly small precursor; and a grossly normal precursor. Mutant beta subunit
precursors from LAD patients failed to associate with the LFA-1 alpha subunit. In
family studies, inheritance of the aberrant precursors correlates with the known inheritance
of the LAD defect.