Prevalence of KIT D816V in anaphylaxis or systemic mast cell activation.

doi:10.1016/j.jaci.2025.10.010

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Article

Prevalence of KIT D816V in anaphylaxis or systemic mast cell activation.

The Journal of allergy and clinical immunology - 1 Feb 2026

Hartmann Karin, Alvarez-Twose Ivan, Bernstein Jonathan A, Akin Cem, Myers Bethan, Hirdt Albert, Whyte Andrew F, Anderson John, Ruëff Franziska, Siebenhaar Frank, White Andrew A, Pongdee Thanai, Grattan Clive E, Jurcic Joseph G, Bonadonna Patrizia, Triggiani Massimo, Giannetti Matthew, Barete Stephane, Wedi Bettina, Zakharyan Aaron, Coghlan Ray, Hoehn Gerard, Lugar Patricia, Livideanu Cristina Bulai, Sabato Vito

Abstract excerpt

BACKGROUND: The KIT D816V mutation is a hallmark of clonal mast cell disease (cMCD) including systemic mastocytosis. cMCD diagnosis is frequently delayed because of variable symptoms until confirmatory bone marrow biopsy is performed. Screening techniques for KIT D816V variant in peripheral blood (PB) may facilitate diagnosis. Prevalence of KIT D816V in patients with anaphylaxis or mast cell activation (MCA)...

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PMID: 41399928
DOI: 10.1016/j.jaci.2025.10.010

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