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.
Curr Allergy Asthma Rep. 2019 Apr 26;19(6):31. doi: 10.1007/s11882-019-0863-5.
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.
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. This review provides an overview of the role of KIT mutations in mastocytosis and anaphylaxis, and highlights emerging therapies for mastocytosis, targeting these mutations.
功能获得性 KIT 突变可在克隆性肥大细胞疾病中检测到，即肥大细胞增多症和单克隆肥大细胞激活综合征。由于这些疾病与严重的、危及生命的过敏反应有关，因此及时诊断和治疗这些疾病至关重要。KIT 突变也对肥大细胞疾病的靶向治疗具有重要意义。本文旨在概述克隆性肥大细胞疾病在过敏反应中的作用，并阐明目前和未来的治疗方法。
克隆性肥大细胞疾病在严重蜂类过敏和反复不明原因过敏反应的患者中被越来越多地诊断出来。目前，人们对肥大细胞增多症的流行病学、病理生理学、诊断和治疗有了更多的了解，特别是在过敏反应及其触发因素方面，本文对此进行了描述。本文还讨论了新的和即将出现的治疗方法，包括 KIT 突变状态的相关性。本综述概述了 KIT 突变在肥大细胞增多症和过敏反应中的作用，并强调了针对这些突变的肥大细胞增多症的新兴治疗方法。
