Article
Characterization of four CD18 mutants in leucocyte adhesion deficient (LAD) patients with differential capacities to support expression and function of the CD11/CD18 integrins LFA-1, Mac-1 and p150,95.
Clinical and experimental immunology - 1 Nov 2001
Shaw J M, Al-Shamkhani A, Boxer L A, Buckley C D, Dodds A W, Klein N, Nolan S M, Roberts I, Roos D, Scarth S L, Simmons D L, Tan S M, Law S K
Abstract excerpt
Leucocyte adhesion deficiency (LAD) is a hereditary disorder caused by mutations in the CD18 (beta2 integrin) gene. Four missense mutations have been identified in three patients. CD18(A270V) supports, at a diminished level, CD11b/CD18 (Mac-1, alphaMbeta2 integrin) and CD11c/CD18 (p150,95, alphaXbeta2 integrin) expression and function but not CD11a/CD18 (LFA-1, alphaLbeta2 integrin) expression. Conversely,...
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