KITD816V mutation in blood for the diagnostic screening of systemic mastocytosis and mast cell activation syndromes.

Paula Navarro-Navarro,Iván Álvarez-Twose,Alba Pérez-Pons,Ana Henriques,Andrea Mayado,Andrés C García-Montero,Laura Sánchez-Muñoz,Oscar González-López,Almudena Matito,Carolina Caldas,María Jara-Acevedo,Alberto Orfao

Allergy（2022）

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摘要

These results confirm the high specificity but limited sensitivity of KITD816V analysis in whole blood for the diagnostic screening of SM and other primary MCAS, which might be overcome by assessing the mutation in blood-purified myeloid cell populations.

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关键词

KITD816V,MCAS (mast cell activation syndrome),Mastocytosis,basophils,eosinophils

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