A new mutation in the KINDLIN‐3 gene ablates integrin‐dependent leukocyte, platelet, and osteoclast function in a patient with leukocyte adhesion deficiency‐III

Abstract excerpt

Disabling mutations in integrin-mediated cell signaling have been a major focus of interest over the last decade for patients affected with leukocyte adhesion deficiency-III (LAD-III). In this study, we identified a new C>T point mutation in exon 13 in the FERMT3 gene in an infant diagnosed with LAD-III and showed that KINDLIN-3 expression is required for platelet aggregation and leukocyte function, but also...

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