间歇性粒细胞成熟停滞、骨髓细胞减少以及间歇性正常中性粒细胞计数可能与导致类施瓦赫曼-戴蒙德综合征的SRP54突变有关。 - Suppr

Intermittent granulocyte maturation arrest, hypocellular bone marrow, and episodic normal neutrophil count can be associated with SRP54 mutations causing Shwachman-Diamond-like syndrome.

作者信息

Saettini Francesco, Cattoni Alessandro, D'Angio' Mariella, Corti Paola, Maitz Silvia, Pagni Fabio, Seminati Davide, Pezzoli Laura, Iascone Maria, Biondi Andrea, Bonanomi Sonia

机构信息

Department of Pediatrics, Fondazione MBBM, University of Milano-Bicocca, Monza, Italy.

Clinical Pediatric Genetic Unit, Pediatric Clinic, Fondazione MBBM, San Gerardo Hospital, Monza, Italy.

出版信息

Br J Haematol. 2020 May;189(4):e171-e174. doi: 10.1111/bjh.16585. Epub 2020 Mar 20.

DOI:10.1111/bjh.16585

PMID:32196641

Abstract

摘要

相似文献

Intermittent granulocyte maturation arrest, hypocellular bone marrow, and episodic normal neutrophil count can be associated with SRP54 mutations causing Shwachman-Diamond-like syndrome.间歇性粒细胞成熟停滞、骨髓细胞减少以及间歇性正常中性粒细胞计数可能与导致类施瓦赫曼-戴蒙德综合征的SRP54突变有关。

Br J Haematol. 2020 May;189(4):e171-e174. doi: 10.1111/bjh.16585. Epub 2020 Mar 20.

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.

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.

Severe congenital neutropenia, SRP54 pathogenicity, and a framework for surveillance.严重先天性中性粒细胞减少症、SRP54 致病性和监测框架。

Am J Med Genet A. 2023 May;191(5):1434-1441. doi: 10.1002/ajmg.a.63156. Epub 2023 Feb 23.

Autosomal dominant Shwachman-Diamond syndrome with a novel heterozygous missense variant in the SRP54 gene causing severe phenotypic features.常染色体显性遗传性施瓦赫曼-戴蒙德综合征，伴有SRP54基因中的一种新型杂合错义变异，导致严重的表型特征。

Br J Haematol. 2022 Feb;196(3):e39-e42. doi: 10.1111/bjh.17853. Epub 2021 Sep 22.

Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman-Diamond Syndrome carrying biallelic SBDS mutations.在16例携带双等位基因SBDS突变的施瓦赫曼-戴蒙德综合征患者中，有6例患者的全外显子组测序显示DNAJC21和EFL1基因存在杂合变异，但SRP54基因未发现变异。

Br J Haematol. 2019 May;185(3):627-630. doi: 10.1111/bjh.15594. Epub 2018 Sep 10.

SRP54 mutations induce congenital neutropenia via dominant-negative effects on XBP1 splicing.SRP54 突变通过对 XBP1 剪接的显性负效应诱导先天性中性粒细胞减少症。

Blood. 2021 Mar 11;137(10):1340-1352. doi: 10.1182/blood.2020008115.

Cellular Traffic Jam and Disease Due to Mutations in SRP54.因 SRP54 突变导致的细胞交通堵塞和疾病。

Structure. 2021 Jan 7;29(1):3-5. doi: 10.1016/j.str.2020.12.010.

Structural and Functional Impact of SRP54 Mutations Causing Severe Congenital Neutropenia.导致严重先天性中性粒细胞减少症的 SRP54 突变的结构和功能影响。

Structure. 2021 Jan 7;29(1):15-28.e7. doi: 10.1016/j.str.2020.09.008. Epub 2020 Oct 13.

Severe Congenital Neutropenia associated with SRP54 mutation in 22q11.2 Deletion Syndrome: Hematopoietic Stem Cell Transplantation Results in Correction of Neutropenia with Adequate Immune Reconstitution.22q11.2缺失综合征中与SRP54突变相关的严重先天性中性粒细胞减少症：造血干细胞移植可纠正中性粒细胞减少症并实现充分的免疫重建。

J Clin Immunol. 2018 Jul;38(5):546-549. doi: 10.1007/s10875-018-0518-7. Epub 2018 Jun 29.

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Blood Adv. 2020 Oct 27;4(20):5232-5245. doi: 10.1182/bloodadvances.2020002687.

Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency.滤泡素相互作用蛋白 1 缺乏症中 B 细胞缺失、无丙种球蛋白血症和肥厚型心肌病。

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Intermittent granulocyte maturation arrest, hypocellular bone marrow, and episodic normal neutrophil count can be associated with SRP54 mutations causing Shwachman-Diamond-like syndrome.

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