Most cases of mastocytosis are caused by changes (mutations) in the KIT gene. This gene encodes a protein that helps control many important cellular processes such as cell growth and division; survival; and movement. This protein is also important for the development of certain types of cells, including mast cells (immune cells that are important for the inflammatory response). Certain mutations in the KIT gene can leads to an overproduction of mast cells. In mastocytosis, excess mast cells accumulate in the skin and/or internal organs, leading to the many signs and symptoms of the condition.
Last updated: 6/18/2015
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