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Detection of KIT D816V mutation in patients with severe anaphylaxis and normal basal tryptase-first data from the Anaphylaxis Registry (NORA).

作者信息

Dölle-Bierke Sabine, Siebenhaar Frank, Burmeister Thomas, Worm Margitta

机构信息

Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Department of Dermatology, Venereology and Allergology, Berlin, Germany.

Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Department of Hematology, Oncology and Tumor Immunology, Berlin, Germany; Labor Berlin, Hematology - Tumor Genetics, Berlin, Germany.

出版信息

J Allergy Clin Immunol. 2019 Nov;144(5):1448-1450.e1. doi: 10.1016/j.jaci.2019.07.037. Epub 2019 Aug 12.

DOI:10.1016/j.jaci.2019.07.037
PMID:31415784
Abstract
摘要

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1
Detection of KIT D816V mutation in patients with severe anaphylaxis and normal basal tryptase-first data from the Anaphylaxis Registry (NORA).严重过敏反应且基础类胰蛋白酶正常患者中KIT D816V突变的检测——来自过敏反应注册研究（NORA）的首批数据
J Allergy Clin Immunol. 2019 Nov;144(5):1448-1450.e1. doi: 10.1016/j.jaci.2019.07.037. Epub 2019 Aug 12.
2
Venom anaphylaxis can mimic other serious conditions and disclose important underlying disease.毒液过敏反应可能会模仿其他严重病症并揭示重要的潜在疾病。
Ann Allergy Asthma Immunol. 2018 Mar;120(3):338-339. doi: 10.1016/j.anai.2017.12.022.
3
[IgE mediated anaphylaxis in a patient with systemic mastocytosis].[系统性肥大细胞增多症患者的IgE介导的过敏反应]
Ann Dermatol Venereol. 2013 Oct;140(10):641-4. doi: 10.1016/j.annder.2012.06.054. Epub 2013 Jun 24.
4
Routine KIT p.D816V screening identifies clonal mast cell disease in patients with Hymenoptera allergy regularly missed using baseline tryptase levels alone.常规的KIT p.D816V筛查可识别膜翅目过敏患者中的克隆性肥大细胞疾病，而仅使用基线类胰蛋白酶水平时常常会漏诊。
J Allergy Clin Immunol. 2021 Aug;148(2):621-626.e7. doi: 10.1016/j.jaci.2021.02.043. Epub 2021 Mar 19.
5
Serum tryptase correlates with the KIT D816V mutation burden in adults with indolent systemic mastocytosis.血清类胰蛋白酶与惰性系统性肥大细胞增多症成人的 KIT D816V 突变负担相关。
Eur J Haematol. 2013 Aug;91(2):106-11. doi: 10.1111/ejh.12128. Epub 2013 Jun 28.
6
Diagnosis of Primary Mast Cell Disorders in Anaphylaxis: Value of KIT D816V in Peripheral Blood.在过敏反应中诊断原发性肥大细胞疾病：外周血 KIT D816V 的价值。
J Allergy Clin Immunol Pract. 2021 Aug;9(8):3176-3187.e3. doi: 10.1016/j.jaip.2021.04.062. Epub 2021 May 8.
7
KIT D816V mutation burden does not correlate to clinical manifestations of indolent systemic mastocytosis.KIT D816V 突变负担与惰性系统性肥大细胞增多症的临床表现无关。
J Allergy Clin Immunol. 2013 Sep;132(3):723-728. doi: 10.1016/j.jaci.2013.02.019. Epub 2013 Apr 12.
8
Nonaggressive systemic mastocytosis (SM) without skin lesions associated with insect-induced anaphylaxis shows unique features versus other indolent SM.非侵袭性系统性肥大细胞增多症（SM）无皮肤损伤与昆虫诱导的过敏反应有关，与其他惰性 SM 相比具有独特特征。
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Prospective evaluation of the diagnostic value of sensitive KIT D816V mutation analysis of blood in adults with suspected systemic mastocytosis.前瞻性评估血液中敏感 KIT D816V 突变分析对疑似系统性肥大细胞增多症成人的诊断价值。
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10
KIT D816V and JAK2 V617F mutations are seen recurrently in hypereosinophilia of unknown significance.KIT D816V 和 JAK2 V617F 突变在不明原因的嗜酸性粒细胞增多症中频繁出现。
Am J Hematol. 2015 Sep;90(9):774-7. doi: 10.1002/ajh.24075. Epub 2015 Aug 14.

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High burden of clonal mast cell disorders and hereditary α-tryptasemia in patients who need Hymenoptera venom immunotherapy.变应原免疫治疗患者中克隆性肥大细胞疾病和遗传性 α-胰蛋白酶血症负担高。
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Diagnostic Significance of Tryptase for Suspected Mast Cell Disorders.
类胰蛋白酶对疑似肥大细胞疾病的诊断意义。
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Fatal Venom-Triggered Anaphylaxis in Patients with Unrecognized Clonal Mast Cell Disorder-Is Mastocytosis to Blame?致命的毒液触发的过敏反应在未被识别的克隆肥大细胞疾病患者中——肥大细胞增多症是否应该受到指责？
Int J Mol Sci. 2023 Nov 15;24(22):16368. doi: 10.3390/ijms242216368.
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Immediate hypersensitivity to COVID-19 vaccines: Focus on biological diagnosis.对新冠病毒疫苗的速发型超敏反应：聚焦生物学诊断。
Front Allergy. 2022 Sep 30;3:1007602. doi: 10.3389/falgy.2022.1007602. eCollection 2022.
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Anaphylaxis in elderly people.老年人过敏反应。
Curr Opin Allergy Clin Immunol. 2022 Dec 1;22(6):435-440. doi: 10.1097/ACI.0000000000000855. Epub 2022 Sep 14.
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Management of anaphylaxis due to COVID-19 vaccines in the elderly.老年人因 COVID-19 疫苗而产生的过敏反应的管理。
Allergy. 2021 Oct;76(10):2952-2964. doi: 10.1111/all.14838.
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Routine KIT p.D816V screening identifies clonal mast cell disease in patients with Hymenoptera allergy regularly missed using baseline tryptase levels alone.常规的KIT p.D816V筛查可识别膜翅目过敏患者中的克隆性肥大细胞疾病，而仅使用基线类胰蛋白酶水平时常常会漏诊。
J Allergy Clin Immunol. 2021 Aug;148(2):621-626.e7. doi: 10.1016/j.jaci.2021.02.043. Epub 2021 Mar 19.
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World allergy organization anaphylaxis guidance 2020.世界过敏组织2020年过敏反应指南
World Allergy Organ J. 2020 Oct 30;13(10):100472. doi: 10.1016/j.waojou.2020.100472. eCollection 2020 Oct.