Article
Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1).
Blood - 1 Jan 2008
Uzel Gulbu, Tng Emilia, Rosenzweig Sergio D, Hsu Amy P, Shaw Jacqueline M, Horwitz Mitchell E, Linton Gilda F, Anderson Stacie M, Kirby Martha R, Oliveira Jaõ B, Brown Margaret R, Fleisher Thomas A, Law S K Alex, Holland Steven M
Abstract excerpt
Leukocyte adhesion deficiency type-1 (LAD-1) is an autosomal recessive immunodeficiency caused by mutations in the beta2 integrin, CD18, that impair CD11/CD18 heterodimer surface expression and/or function. Absence of functional CD11/CD18 integrins on leukocytes, particularly neutrophils, leads t...
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