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SRP54 与新中性粒细胞减少症分类学的需求。

SRP54 and a need for a new neutropenia nosology.

机构信息

Virginia Commonwealth University School of Medicine.

Virginia Commonwealth University School of Medicine

出版信息

Blood. 2018 Sep 20;132(12):1220-1222. doi: 10.1182/blood-2018-07-859959.

DOI:10.1182/blood-2018-07-859959
PMID:30237254
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6148449/
Abstract

In this issue of , Bellanné-Chantelot et al noted that mutations in signal recognition particle 54 () cause an inherited neutropenia in 23 individuals with features of both severe congenital neutropenia (SCN) and Shwachman-Diamond syndrome (SDS).

摘要

在本期 中，Bellanné-Chantelot 等人指出，信号识别颗粒 54（ ）的突变导致 23 名个体同时具有严重先天性中性粒细胞减少症（SCN）和 Shwachman-Diamond 综合征（SDS）的特征的遗传性中性粒细胞减少症。

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本文引用的文献

1
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.
2
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。
Hematology Am Soc Hematol Educ Program. 2017 Dec 8;2017(1):172-180. doi: 10.1182/asheducation-2017.1.172.
3
A landscape of germ line mutations in a cohort of inherited bone marrow failure patients.一组遗传性骨髓衰竭患者的种系突变景观。
Blood. 2018 Feb 15;131(7):717-732. doi: 10.1182/blood-2017-09-806489. Epub 2017 Nov 16.
4
Somatic mutations and clonal hematopoiesis in congenital neutropenia.先天性中性粒细胞减少症中的体细胞突变和克隆性造血。
Blood. 2018 Jan 25;131(4):408-416. doi: 10.1182/blood-2017-08-801985. Epub 2017 Nov 1.
5
Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.信号识别颗粒SRP54中的突变会导致具有类施瓦茨曼-戴蒙德特征的综合征性中性粒细胞减少症。
J Clin Invest. 2017 Nov 1;127(11):4090-4103. doi: 10.1172/JCI92876. Epub 2017 Oct 3.
6
Dysplastic neutrophils in the bone marrow of a Shwachman-Diamond syndrome patient.一名施瓦茨曼-戴蒙德综合征患者骨髓中的发育异常中性粒细胞。
Blood. 2017 Jul 6;130(1):96. doi: 10.1182/blood-2017-03-773846.
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Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia.外显子组测序鉴定出与家族性再生障碍性贫血和骨髓增生异常相关的常染色体显性 SRP72 突变。
Am J Hum Genet. 2012 May 4;90(5):888-92. doi: 10.1016/j.ajhg.2012.03.020. Epub 2012 Apr 26.