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A Novel CYBB Variant Causing X-Linked Chronic Granulomatous Disease in a Patient with Empyema.

作者信息

Kitcharoensakkul Maleewan, Song Zhimin, Bednarski Jeffrey J, Dinauer Mary

机构信息

Department of Pediatrics, Washington University School of Medicine, Campus box 8116, One Children's Place, St. Louis, MO, 63110, USA.

Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, USA.

出版信息

J Clin Immunol. 2021 Jan;41(1):266-269. doi: 10.1007/s10875-020-00897-1. Epub 2020 Oct 22.

DOI:10.1007/s10875-020-00897-1
PMID:33090293
Abstract
摘要

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Cellular Therapies in Chronic Granulomatous Disease.慢性肉芽肿病的细胞疗法
Front Pediatr. 2020 Jun 26;8:327. doi: 10.3389/fped.2020.00327. eCollection 2020.
2
A single-center experience using alemtuzumab, fludarabine, melphalan, and thiotepa as conditioning for transplantation in pediatric patients with chronic granulomatous disease.在儿科慢性肉芽肿病患者中，使用阿仑单抗、氟达拉滨、马法兰和噻替哌作为移植预处理的单中心经验。
Pediatr Blood Cancer. 2020 Jan;67(1):e28030. doi: 10.1002/pbc.28030. Epub 2019 Oct 10.
3
Chronic Granulomatous Disease: Epidemiology, Pathophysiology, and Genetic Basis of Disease.
慢性肉芽肿病：疾病的流行病学、病理生理学和遗传基础。
J Pediatric Infect Dis Soc. 2018 May 9;7(suppl_1):S2-S5. doi: 10.1093/jpids/piy008.
4
Crystal structures and atomic model of NADPH oxidase.NADPH 氧化酶的晶体结构和原子模型。
Proc Natl Acad Sci U S A. 2017 Jun 27;114(26):6764-6769. doi: 10.1073/pnas.1702293114. Epub 2017 Jun 12.
5
Analysis of protein-coding genetic variation in 60,706 humans.对60706名人类的蛋白质编码基因变异进行分析。
Nature. 2016 Aug 18;536(7616):285-91. doi: 10.1038/nature19057.
6
A Comprehensive Approach to the Management of Children and Adults with Chronic Granulomatous Disease.慢性肉芽肿病患儿和成人管理的综合方法。
J Allergy Clin Immunol Pract. 2016 Nov-Dec;4(6):1082-1088. doi: 10.1016/j.jaip.2016.03.021. Epub 2016 May 10.
7
Reduced-intensity conditioning and HLA-matched haemopoietic stem-cell transplantation in patients with chronic granulomatous disease: a prospective multicentre study.慢性肉芽肿病患者的低强度预处理和 HLA 匹配造血干细胞移植：一项前瞻性多中心研究。
Lancet. 2014 Feb 1;383(9915):436-48. doi: 10.1016/S0140-6736(13)62069-3. Epub 2013 Oct 23.
8
Hematologically important mutations: X-linked chronic granulomatous disease (third update).血液学重要突变：X 连锁慢性肉芽肿病（第三次更新）。
Blood Cells Mol Dis. 2010 Oct 15;45(3):246-65. doi: 10.1016/j.bcmd.2010.07.012. Epub 2010 Aug 21.
9
A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity.一种慢性肉芽肿病的新遗传亚组，其p40吞噬细胞氧化酶存在常染色体隐性突变，且中性粒细胞烟酰胺腺嘌呤二核苷酸磷酸氧化酶活性有选择性缺陷。
Blood. 2009 Oct 8;114(15):3309-15. doi: 10.1182/blood-2009-07-231498. Epub 2009 Aug 19.