作为一种孤立的血细胞缺陷，嗜中性粒细胞减少症是一种广泛谱的后天性或先天性、良性或前恶性障碍的特征，这些障碍具有发生骨髓增生异常肿瘤/急性髓细胞白血病的倾向，可以发生在任何年龄。近年来，特别是在基因组学领域，诊断方法的进步揭示了新的基因和机制，这些基因和机制负责病因和疾病进展，并为定制治疗开辟了新的视角。尽管该领域的研究和诊断进展，但国际嗜中性粒细胞减少症患者登记处和科学网络所产生的现实证据表明，嗜中性粒细胞减少症患者的诊断和治疗大多基于医生的经验和本地实践。因此，欧洲创新诊断和治疗慢性嗜中性粒细胞减少症网络的专家在欧洲血液学会的支持下合作，制定了针对慢性嗜中性粒细胞减少症患者的整个谱系的诊断和治疗建议。在本文中，我们描述了基于证据和共识的指南，包括慢性嗜中性粒细胞减少症的定义和分类、诊断和随访，以及特殊实体，如妊娠和新生儿期。我们特别强调将临床发现与传统和新型实验室测试，以及高级生殖系和/或体细胞突变分析相结合，对整个嗜中性粒细胞减少症患者谱系的特征化、风险分层和监测具有重要意义。我们相信，这些实用建议的广泛临床应用将对患者、家庭和治疗医生特别有益。版权所有©2023作者。 Wolters Kluwer Health, Inc.代表欧洲血液学会发表。

Neutropenia, as an isolated blood cell deficiency, is a feature of a wide spectrum of acquired or congenital, benign or premalignant disorders with a predisposition to develop myelodysplastic neoplasms/acute myeloid leukemia that may arise at any age. In recent years, advances in diagnostic methodologies, particularly in the field of genomics, have revealed novel genes and mechanisms responsible for etiology and disease evolution and opened new perspectives for tailored treatment. Despite the research and diagnostic advances in the field, real world evidence, arising from international neutropenia patient registries and scientific networks, has shown that the diagnosis and management of neutropenic patients is mostly based on the physicians' experience and local practices. Therefore, experts participating in the European Network for the Innovative Diagnosis and Treatment of Chronic Neutropenias have collaborated under the auspices of the European Hematology Association to produce recommendations for the diagnosis and management of patients across the whole spectrum of chronic neutropenias. In the present article, we describe evidence- and consensus-based guidelines for the definition and classification, diagnosis, and follow-up of patients with chronic neutropenias including special entities such as pregnancy and the neonatal period. We particularly emphasize the importance of combining the clinical findings with classical and novel laboratory testing, and advanced germline and/or somatic mutational analyses, for the characterization, risk stratification, and monitoring of the entire spectrum of neutropenia patients. We believe that the wide clinical use of these practical recommendations will be particularly beneficial for patients, families, and treating physicians.Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the European Hematology Association.