Article
Mastocytosis associated with a rare germline KIT K509I mutation displays a well-differentiated mast cell phenotype.
The Journal of allergy and clinical immunology - 1 Jul 2014
Chan Eunice Ching, Bai Yun, Kirshenbaum Arnold S, Fischer Elizabeth R, Simakova Olga, Bandara Geethani, Scott Linda M, Wisch Laura B, Cantave Daly, Carter Melody C, Lewis John C, Noel Pierre, Maric Irina, Gilfillan Alasdair M, Metcalfe Dean D, Wilson Todd M
Abstract excerpt
BACKGROUND: Mastocytosis associated with germline KIT activating mutations is exceedingly rare. We report the unique clinicopathologic features of a patient with systemic mastocytosis caused by a de novo germline KIT K509I mutation. OBJECTIVES: We sought to investigate the effect of the germline KIT K509I mutation on human mast cell development and function. METHODS: Primary human mast cells derived from CD34(+)...
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