Thrombocytopathy and type 2B von Willebrand disease.

摘要: The knowledge gained from "experiments of nature" has always been paramount in identifying key players pathophysiologic pathways. This is well characterized by naturally occurring bleeding and thrombotic disorders. In most cases, it the absence a particular protein that leads to recognition its importance for normal physiology. On other hand, gain-of-function mutations highlight not only presence protein, but also how regulates physiologic response. this issue JCI, Casari colleagues define previously unrecognized consequence variant type 2B von Willebrand factor (vWF) binding blood platelets. More than 30 years after an initial description vWF, spontaneous vWF platelets viewed as dysregulation platelet signaling pathways contributing phenotype.