Article
Leukocyte adhesion deficiency-I variant syndrome (LAD-Iv, LAD-III): molecular characterization of the defect in an index family.
American journal of hematology - 1 Mar 2012
Harris Estelle S, Smith Tammy L, Springett Gregory M, Weyrich Andrew S, Zimmerman Guy A
Abstract excerpt
Leukocyte adhesion deficiencies are rare clinical syndromes of impaired host defense that provide novel insights into regulation of immune and inflammatory responses. Leukocyte adhesion deficiency (LAD)-I variant (LAD-Iv), also called LAD-III, is a unique disorder in which inside-out signaling of β₁, β₂, and β₃ integrins on leukocytes and platelets is disrupted, leading to impaired cellular adhesion, recurrent...
Topics
- Bone Marrow Transplantation
- CD18 Antigens
- Cell Adhesion
- Cell Line, Transformed
- Cells, Cultured
- Consanguinity
- Genetic Predisposition to Disease
- Hemorrhagic Disorders
- Hepatomegaly
- Humans
- Infant
- Infant, Newborn
- Infections