Abstract
KIT is a tyrosine kinase receptor which binds stem cell factor (SCF) and is critical to human mast cell (HuMC) development and survival. Recently we identified a patient with systemic mastocytosis harboring a rare heterozygous germline KIT K509I mutation. K509I is located in the 5th immunoglobulin region and such mutations are thought to enhance KIT homodimerization and activation. With this in mind, the effect of the K509I mutation on HuMC development was investigated.
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