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The Role of KIT Mutations in Anaphylaxis

  • Anaphylaxis and Drug Allergy (DA Khan and M Castells, Section Editors)
  • Published:
Current Allergy and Asthma Reports Aims and scope Submit manuscript

Abstract

Purpose of Review

Gain of function KIT mutations are detected in clonal mast cell diseases, namely mastocytosis and monoclonal mast cell activation syndrome. Timely diagnosis and treatment of these disorders are crucial because of their association with severe and life-threatening anaphylaxis. KIT mutations also have implications for targeted therapies of mast cell disorders. This review article strives to serve as an overview of the role of clonal mast cell disorders in anaphylaxis while elucidating current and future therapies.

Recent Findings

Clonal mast cell disease has been increasingly diagnosed in patients with severe hymenoptera allergy and those with recurrent unexplained anaphylaxis. The current state of knowledge of the epidemiology, pathophysiology, diagnosis, and treatment of mastocytosis with a particular focus on anaphylaxis and its triggers which are described in this context. Novel and forthcoming treatments are discussed including the relevance of KIT mutation status.

Summary

This review provides an overview of the role of KIT mutations in mastocytosis and anaphylaxis, and highlights emerging therapies for mastocytosis, targeting these mutations.

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Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance

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Authors and Affiliations

  1. Department of Internal Medicine, Division of Allergy and Immunology, University of Michigan, 24 Frank Lloyd Wright Drive, Suite H-2100, PO Box 442, Ann Arbor, MI, 48106-0442, USA

    Elise Coulson, Sherry Zhou & Cem Akin

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  1. Elise Coulson
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  2. Sherry Zhou
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  3. Cem Akin
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Correspondence to Cem Akin.

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Elise Coulson and Sherry Zhou declare that they have no conflict of interest. Cem Akin has consultancy agreements with Novartis and Blueprint Medicines.

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This article is part of the Topical Collection on Anaphylaxis and Drug Allergy

Elise Coulson and Sherry Zhou are co-first authors

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Coulson, E., Zhou, S. & Akin, C. The Role of KIT Mutations in Anaphylaxis. Curr Allergy Asthma Rep 19, 31 (2019). https://doi.org/10.1007/s11882-019-0863-5

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