Prevalence of the KIT D816V Mutation in Peripheral Blood (PB) of Patients with Evidence of Systemic Mast Cell Activation (MCA): Results of the Prospective, Multi-centered, Global PROSPECTOR Clinical Trial

Journal of Allergy and Clinical Immunology(2024)

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摘要
MCA syndromes, characterized by severe, recurrent symptoms due to mast cell (MC) mediator release, often involve anaphylaxis. MCA syndromes may be clonal/nonclonal, partly based on presence/absence of KIT D816V mutation, a distinction critical for optimizing clinical management. However, prevalence of KIT D816V-driven clonal MC disease in patients with systemic MCA is mostly unknown.
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