Article
A novel leukocyte adhesion deficiency III variant: kindlin-3 deficiency results in integrin- and nonintegrin-related defects in different steps of leukocyte adhesion.
Journal of immunology (Baltimore, Md. : 1950) - 1 May 2011
Robert Philippe, Canault Matthias, Farnarier Catherine, Nurden Alan, Grosdidier Charlotte, Barlogis Vincent, Bongrand Pierre, Pierres Anne, Chambost Hervé, Alessi Marie-Christine
Abstract excerpt
Leukocyte adhesion deficiency type III is a recently described condition involving a Glanzmann-type bleeding syndrome and leukocyte adhesion deficiency. This was ascribed to a defect of the FERMT3 gene resulting in abnormal expression of kindlin-3, a protein expressed in hematopoietic cells with a major role in the regulation of integrin activation. In this article, we describe a patient with a new mutation of...
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