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

Paula Navarro-Navarro Iván Álvarez-Twose Alba Pérez-PonsAna HenriquesAndrea MayadoAndrés C García-MonteroLaura Sánchez-Muñoz Oscar González-López Almudena Matito Carolina Caldas Maria Jara Alberto Orfao

Published in: Allergy (2022)

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.

Keyphrases

single cell
dendritic cells
bone marrow
cell therapy
acute myeloid leukemia
drug induced
structural basis