血液学重要突变：X 连锁慢性肉芽肿病（第三次更新）。
Hematologically important mutations: X-linked chronic granulomatous disease (third update).
机构信息
Sanquin Research, and Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Plesmanlaan 125, 1066 CX, Amsterdam, The Netherlands.
出版信息
Blood Cells Mol Dis. 2010 Oct 15;45(3):246-65. doi: 10.1016/j.bcmd.2010.07.012. Epub 2010 Aug 21.
Abstract
Chronic granulomatous disease (CGD) is an immunodeficiency disorder affecting about 1 in 250,000 individuals. The disease is caused by a lack of superoxide production by the leukocyte enzyme NADPH oxidase. Superoxide is used to kill phagocytosed micro-organisms in neutrophils, eosinophils, monocytes and macrophages. The leukocyte NADPH oxidase is composed of five subunits, of which the enzymatic component is gp91-phox, also called Nox2. This protein is encoded by the CYBB gene on the X chromosome. Mutations in this gene are found in about 70% of all CGD patients. This article lists all mutations identified in CYBB in the X-linked form of CGD. Moreover, apparently benign polymorphisms in CYBB are also given, which should facilitate the recognition of future disease-causing mutations.
摘要
慢性肉芽肿病（CGD）是一种免疫缺陷病，影响约二十五万人中的一人。该病是由白细胞酶 NADPH 氧化酶缺乏超氧化物产生引起的。超氧化物用于杀死中性粒细胞、嗜酸性粒细胞、单核细胞和巨噬细胞吞噬的微生物。白细胞 NADPH 氧化酶由五个亚基组成，其中酶成分是 gp91-phox，也称为 Nox2。该蛋白由 X 染色体上的 CYBB 基因编码。该基因的突变约见于所有 CGD 患者的 70%。本文列出了 X 连锁 CGD 中 CYBB 中已鉴定的所有突变。此外，还给出了 CYBB 中明显良性的多态性，这将有助于识别未来的致病突变。
相似文献
1
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.
2
Hematologically important mutations: X-linked chronic granulomatous disease (fourth update).血液学重要突变：X 连锁慢性肉芽肿病（第四次更新）。
Blood Cells Mol Dis. 2021 Sep;90:102587. doi: 10.1016/j.bcmd.2021.102587. Epub 2021 Jun 2.
3
Hematologically important mutations: The autosomal forms of chronic granulomatous disease (third update).血液学重要突变：常染色体慢性肉芽肿病（第三次更新）。
Blood Cells Mol Dis. 2021 Dec;92:102596. doi: 10.1016/j.bcmd.2021.102596. Epub 2021 Jul 28.
4
Two X-linked chronic granulomatous disease patients with unusual NADPH oxidase properties.两例具有异常 NADPH 氧化酶特性的 X 连锁慢性肉芽肿病患者。
J Clin Immunol. 2011 Aug;31(4):560-6. doi: 10.1007/s10875-011-9537-3. Epub 2011 May 21.
5
Point mutations in the promoter region of the CYBB gene leading to mild chronic granulomatous disease.CYBB基因启动子区域的点突变导致轻度慢性肉芽肿病。
Clin Exp Immunol. 2000 Dec;122(3):410-7. doi: 10.1046/j.1365-2249.2000.01405.x.
6
Diagnostic paradigm for evaluation of male patients with chronic granulomatous disease, based on the dihydrorhodamine 123 assay.基于二氢罗丹明123检测法评估男性慢性肉芽肿病患者的诊断范式。
J Allergy Clin Immunol. 2003 Feb;111(2):374-9. doi: 10.1067/mai.2003.58.
7
Monocyte/macrophage-specific NADPH oxidase contributes to antimicrobial host defense in X-CGD.单核细胞/巨噬细胞特异性 NADPH 氧化酶有助于 X-CGD 中的抗菌宿主防御。
J Clin Immunol. 2015 Feb;35(2):158-67. doi: 10.1007/s10875-015-0138-4. Epub 2015 Feb 10.
8
9
Novel mutations in CYBB Gene Cause X-linked chronic Granulomatous Disease in Pakistani patients.巴基斯坦患者 CYBB 基因的新突变导致 X 连锁慢性肉芽肿病。
Ital J Pediatr. 2023 Aug 2;49(1):95. doi: 10.1186/s13052-023-01496-7.
引用本文的文献
1
Clinical and genetic description of patients with chronic granulomatous disease in a pediatric hospital.一家儿科医院慢性肉芽肿病患者的临床及遗传学描述
Biomedica. 2024 Dec 23;44(Sp. 2):107-117. doi: 10.7705/biomedica.7565.
2
A Mouse Model of X-Linked Chronic Granulomatous Disease for the Development of CRISPR/Cas9 Gene Therapy.用于开发 CRISPR/Cas9 基因治疗的 X 连锁慢性肉芽肿病小鼠模型。
Genes (Basel). 2024 May 28;15(6):706. doi: 10.3390/genes15060706.
3
Cytomegalovirus and Epstein-Barr Virus Co-infection in a Patient With Chronic Granulomatous Disease Co-existing With Familial Mediterranean Fever and Early-Onset Inflammatory Bowel Disease: A Case Report.慢性肉芽肿病合并家族性地中海热和早发性炎症性肠病患者的巨细胞病毒和爱泼斯坦-巴尔病毒合并感染：病例报告
Cureus. 2023 Aug 30;15(8):e44360. doi: 10.7759/cureus.44360. eCollection 2023 Aug.
4
Chronic Granulomatous Disease (CGD): Commonly Associated Pathogens, Diagnosis and Treatment.慢性肉芽肿病（CGD）：常见相关病原体、诊断与治疗
Microorganisms. 2023 Sep 5;11(9):2233. doi: 10.3390/microorganisms11092233.
5
Novel mutations in CYBB Gene Cause X-linked chronic Granulomatous Disease in Pakistani patients.巴基斯坦患者 CYBB 基因的新突变导致 X 连锁慢性肉芽肿病。
Ital J Pediatr. 2023 Aug 2;49(1):95. doi: 10.1186/s13052-023-01496-7.
6
Chronic Granulomatous Disease: a Cohort of 173 Patients-10-Years Single Center Experience from Egypt.慢性肉芽肿病：来自埃及的 173 例患者-10 年单中心经验队列研究。
J Clin Immunol. 2023 Nov;43(8):1799-1811. doi: 10.1007/s10875-023-01541-4. Epub 2023 Jul 11.
7
Genetically confirmed chronic granulomatous disease in a Kenyan child: case report.肯尼亚一名儿童经基因确证的慢性肉芽肿病：病例报告。
Front Immunol. 2023 May 18;14:1172848. doi: 10.3389/fimmu.2023.1172848. eCollection 2023.
8
A predicted structure of NADPH Oxidase 1 identifies key components of ROS generation and strategies for inhibition.NADPH 氧化酶 1 的预测结构确定了 ROS 生成的关键组成部分和抑制策略。
PLoS One. 2023 May 3;18(5):e0285206. doi: 10.1371/journal.pone.0285206. eCollection 2023.
9
Structure of the core human NADPH oxidase NOX2.核心人类 NADPH 氧化酶 NOX2 的结构。
Nat Commun. 2022 Oct 14;13(1):6079. doi: 10.1038/s41467-022-33711-0.
10
Precise somatic genome editing for treatment of inborn errors of immunity.精确的体细胞基因组编辑治疗先天性免疫缺陷。
Front Immunol. 2022 Aug 26;13:960348. doi: 10.3389/fimmu.2022.960348. eCollection 2022.
本文引用的文献
1
Somatic mosaicism in two unrelated patients with X-linked chronic granulomatous disease characterized by the presence of a small population of normal cells.两名无亲缘关系的 X 连锁慢性肉芽肿病患者存在体细胞嵌合体，其特征为存在一小部分正常细胞。
Gene. 2012 Apr 10;497(1):110-5. doi: 10.1016/j.gene.2012.01.019. Epub 2012 Jan 28.
2
Rapid genetic analysis of x-linked chronic granulomatous disease by high-resolution melting.应用高分辨率熔解技术快速分析 X 连锁慢性肉芽肿病的基因突变。
J Mol Diagn. 2010 May;12(3):368-76. doi: 10.2353/jmoldx.2010.090147. Epub 2010 Mar 12.
3
Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).血液学重要突变：常染色体隐性遗传型慢性肉芽肿病（第二次更新）。
Blood Cells Mol Dis. 2010 Apr 15;44(4):291-9. doi: 10.1016/j.bcmd.2010.01.009. Epub 2010 Feb 18.
4
A novel point mutation in the CYBB gene promoter leading to a rare X minus chronic granulomatous disease variant--impact on the microbicidal activity of neutrophils.CYBB基因启动子中的一种新型点突变导致一种罕见的X连锁慢性肉芽肿病变体——对中性粒细胞杀菌活性的影响
Biochim Biophys Acta. 2009 Mar;1792(3):201-10. doi: 10.1016/j.bbadis.2009.01.005.
5
Ocular manifestations in chronic granulomatous disease in Saudi Arabia.沙特阿拉伯慢性肉芽肿病的眼部表现
J AAPOS. 2009 Aug;13(4):396-9. doi: 10.1016/j.jaapos.2009.05.011.
6
Diffuse interstitial pneumonia and pulmonary hypertension: a novel manifestation of chronic granulomatous disease.弥漫性间质性肺炎和肺动脉高压：慢性肉芽肿病的一种新表现。
Eur Respir J. 2009 Jun;33(6):1498-502. doi: 10.1183/09031936.00138107.
7
Molecular characterization of a large cohort of patients with Chronic Granulomatous Disease and identification of novel CYBB mutations: an Italian multicenter study.一大群慢性肉芽肿病患者的分子特征分析及新型CYBB突变的鉴定：一项意大利多中心研究
Mol Immunol. 2009 Jun;46(10):1935-41. doi: 10.1016/j.molimm.2009.03.016. Epub 2009 May 1.
8
Chronic granulomatous disease: the European experience.慢性肉芽肿病：欧洲的经验
PLoS One. 2009;4(4):e5234. doi: 10.1371/journal.pone.0005234. Epub 2009 Apr 21.
9
X-linked chronic granulomatous disease secondary to skewed X chromosome inactivation in a female with a novel CYBB mutation and late presentation.一名患有新型CYBB突变且发病较晚的女性，因X染色体失活偏倚继发X连锁慢性肉芽肿病。
Clin Immunol. 2008 Nov;129(2):372-80. doi: 10.1016/j.clim.2008.07.022. Epub 2008 Sep 6.
10
First report of clinical, functional, and molecular investigation of chronic granulomatous disease in nine Jordanian families.九个约旦家庭慢性肉芽肿病的临床、功能和分子研究的首次报告。
J Clin Immunol. 2009 Mar;29(2):215-30. doi: 10.1007/s10875-008-9243-y. Epub 2008 Sep 5.
Zotero 插件