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Article

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

Allergy - 1 May 2023

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

Abstract excerpt

BACKGROUND: Current diagnostic algorithms for systemic mastocytosis (SM) rely on the detection of KITD816V in blood to trigger subsequent bone marrow (BM) investigations. METHODS: Here, we correlated the KITD816V mutational status of paired blood and BM samples from 368 adults diagnosed with mast cell activation syndrome (MCAS) and mastocytosis and determined the potential utility of investigating KITD816V in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36385619
DOI: 10.1111/all.15584

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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