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本文引用的文献

1
Donor-derived MDS/AML in families with germline mutation.携带种系突变的家族中供体来源的骨髓增生异常综合征/急性髓系白血病
Blood. 2018 Nov 1;132(18):1994-1998. doi: 10.1182/blood-2018-07-861070. Epub 2018 Sep 19.
2
PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome: A rare cause of childhood neutropenia associated with systemic inflammation and hyperzincemia.PSTPIP1 相关髓系相关蛋白血症炎症综合征：一种与全身炎症和高血锌相关的儿童中性粒细胞减少症的罕见病因。
Pediatr Blood Cancer. 2019 Jan;66(1):e27439. doi: 10.1002/pbc.27439. Epub 2018 Sep 10.
3
Further evidence for the involvement of in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features.参与类施瓦赫曼-戴蒙德综合征及表型特征扩展的进一步证据。
Cold Spring Harb Mol Case Stud. 2018 Oct 1;4(5). doi: 10.1101/mcs.a003046. Print 2018 Oct.
4
Mutations in the gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome.基因中的突变会导致严重的先天性中性粒细胞减少症和 Shwachman-Diamond 样综合征。
Blood. 2018 Sep 20;132(12):1318-1331. doi: 10.1182/blood-2017-12-820308. Epub 2018 Jun 18.
5
CD40 ligand deficiency causes functional defects of peripheral neutrophils that are improved by exogenous IFN-γ.CD40 配体缺陷导致外周中性粒细胞功能缺陷，外源性 IFN-γ可改善这一缺陷。
J Allergy Clin Immunol. 2018 Nov;142(5):1571-1588.e9. doi: 10.1016/j.jaci.2018.02.026. Epub 2018 Mar 5.
6
Recent advances in understanding hematopoiesis in Fanconi Anemia.范可尼贫血造血机制研究的最新进展
F1000Res. 2018 Jan 24;7:105. doi: 10.12688/f1000research.13213.1. eCollection 2018.
7
Gene correction of reversed Kostmann disease phenotype in patient-specific induced pluripotent stem cells.患者特异性诱导多能干细胞中反向 Kostmann 病表型的基因校正。
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Recent advances in understanding the pathogenesis and management of reticular dysgenesis.网状发育不良发病机制和治疗的最新进展。
Br J Haematol. 2018 Mar;180(5):644-653. doi: 10.1111/bjh.15045. Epub 2017 Dec 21.
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A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history.一种导致MIRAGE综合征的新型SAMD9突变：表型、畸形学及自然史的扩展与综述
Am J Med Genet A. 2018 Feb;176(2):415-420. doi: 10.1002/ajmg.a.38557. Epub 2017 Dec 21.
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New monogenic disorders identify more pathways to neutropenia: from the clinic to next-generation sequencing.新的单基因疾病鉴定出更多中性粒细胞减少症的途径：从临床到下一代测序。
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基因检测时代的中性粒细胞减少症：进展与挑战。

Neutropenia in the age of genetic testing: Advances and challenges.

机构信息

Dana Farber and Boston Children's Cancer and Blood Disorders Center, Boston, Massachusetts.

Department of Pediatrics, University of Massachusetts Medical School, Worcester, Massachusetts.

出版信息

Am J Hematol. 2019 Mar;94(3):384-393. doi: 10.1002/ajh.25374. Epub 2019 Jan 8.

DOI:10.1002/ajh.25374
PMID:30536760
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6380907/
Abstract

Identification of genetic causes of neutropenia informs precision medicine approaches to medical management and treatment. Accurate diagnosis of genetic neutropenia disorders informs treatment options, enables risk stratification, cancer surveillance, and attention to associated medical complications. The rapidly expanding genetic testing options for the evaluation of neutropenia have led to exciting advances but also new challenges. This review provides a practical guide to germline genetic testing for neutropenia.

摘要

确定中性粒细胞减少症的遗传原因可为精准医疗的医学管理和治疗方法提供信息。对遗传性中性粒细胞减少症的准确诊断可为治疗选择提供信息，能够进行风险分层、癌症监测并关注相关的医疗并发症。用于评估中性粒细胞减少症的基因检测选择的快速扩展带来了令人兴奋的进展，但也带来了新的挑战。本文为中性粒细胞减少症的种系基因检测提供了实用指南。