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Expanding the genetic landscape of congenital neutropenia: mutations in three families revealed through whole exome sequencing.

作者信息

Klimiankou Maksim, Tesakov Ivan, Tsaknakis Grigorios, Boutakoglou Erasmia, Mavroudi Irene, Ritter Malte, Sturm Marc, Skokowa Julia, Papadaki Helen A

机构信息

Division of Translation Oncology, Department of Oncology, Hematology, Immunology, and Rheumatology, University Hospital Tübingen, Tübingen.

Department of Hematology, University Hospital of Heraklion, Heraklion, Greece; Hemopoiesis Research Laboratory, School of Medicine, University of Crete.

出版信息

Haematologica. 2024 Dec 1;109(12):4140-4144. doi: 10.3324/haematol.2024.285569.

DOI:10.3324/haematol.2024.285569
PMID:39086298
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11609805/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e84/11609805/9de2861eb3cf/1094140.fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e84/11609805/a40e096010b1/1094140.fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e84/11609805/9de2861eb3cf/1094140.fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e84/11609805/a40e096010b1/1094140.fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e84/11609805/9de2861eb3cf/1094140.fig2.jpg

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本文引用的文献

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The European Guidelines on Diagnosis and Management of Neutropenia in Adults and Children: A Consensus Between the European Hematology Association and the EuNet-INNOCHRON COST Action.《欧洲成人及儿童中性粒细胞减少症诊断与管理指南：欧洲血液学协会与EuNet-INNOCHRON成本行动之间的共识》
Hemasphere. 2023 Mar 30;7(4):e872. doi: 10.1097/HS9.0000000000000872. eCollection 2023 Apr.
2
A high prevalence of neutrophil-specific antibodies in ELANE-mutated severe congenital neutropenia.ELANE基因突变所致严重先天性中性粒细胞减少症中中性粒细胞特异性抗体的高患病率。
Pediatr Blood Cancer. 2023 Apr;70(4):e30247. doi: 10.1002/pbc.30247. Epub 2023 Feb 3.
3
Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients.
WHIM 综合征 66 例儿科和成年患者国际队列的疾病进展。
J Clin Immunol. 2022 Nov;42(8):1748-1765. doi: 10.1007/s10875-022-01312-7. Epub 2022 Aug 10.
4
Biallelic CXCR2 loss-of-function mutations define a distinct congenital neutropenia entity.双等位基因CXCR2功能丧失突变定义了一种独特的先天性中性粒细胞减少症实体。
Haematologica. 2022 Mar 1;107(3):765-769. doi: 10.3324/haematol.2021.279254.
5
Registries for study of nonmalignant hematological diseases: the example of the Severe Chronic Neutropenia International Registry.研究非恶性血液病的登记处：以严重慢性中性粒细胞减少症国际登记处为例。
Curr Opin Hematol. 2020 Jan;27(1):18-26. doi: 10.1097/MOH.0000000000000558.
6
WHIM Syndrome: from Pathogenesis Towards Personalized Medicine and Cure.WHIM 综合征：从发病机制到个体化医学和治疗。
J Clin Immunol. 2019 Aug;39(6):532-556. doi: 10.1007/s10875-019-00665-w. Epub 2019 Jul 16.
7
Leveraging the IncuCyte Technology for Higher-Throughput and Automated Chemotaxis Assays for Target Validation and Compound Characterization.利用 IncuCyte 技术进行高通量和自动化趋化分析，用于目标验证和化合物特征分析。
SLAS Discov. 2018 Feb;23(2):122-131. doi: 10.1177/2472555217733437. Epub 2017 Sep 28.
8
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
9
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Nat Genet. 2014 Jun;46(6):629-34. doi: 10.1038/ng.2962. Epub 2014 Apr 28.