Severe clinical phenotypes of heterozygous females with X-linked chronic granulomatous disease.
作者信息
Patel Niraj C, Younger M Elizabeth M, Williams Kelli, Matias Lopes Joao Pedro, Kuhns Douglas B, Patel Meera N, Miranda Mary Ann, Marciano Beatriz E, Deal Christin Lawler, Leiding Jennifer W
机构信息
Division of Allergy and Immunology, Department of Pediatrics, Duke University, Durham, NC.
Division of Allergy and Immunology, Johns Hopkins University, Baltimore, Md.
出版信息
J Allergy Clin Immunol Pract. 2024 Dec;12(12):3452-3456.e1. doi: 10.1016/j.jaip.2024.09.018. Epub 2024 Sep 25.
Abstract
摘要
相似文献
1
Severe clinical phenotypes of heterozygous females with X-linked chronic granulomatous disease.X连锁慢性肉芽肿病杂合子女性的严重临床表型。
J Allergy Clin Immunol Pract. 2024 Dec;12(12):3452-3456.e1. doi: 10.1016/j.jaip.2024.09.018. Epub 2024 Sep 25.
2
Severe X-linked chronic granulomatous disease in two unrelated females.两名非亲缘关系女性患严重X连锁慢性肉芽肿病。
Eur J Pediatr. 2007 Feb;166(2):153-9. doi: 10.1007/s00431-006-0211-3. Epub 2006 Nov 3.
3
Skewed X-inactivation in a Female Carrier with X-linked Chronic Granulomatous Disease.患有X连锁慢性肉芽肿病的女性携带者中的X染色体失活偏倚。
Iran J Allergy Asthma Immunol. 2019 Aug 17;18(4):447-451. doi: 10.18502/ijaai.v18i4.1425.
4
Phenomic Analysis of Chronic Granulomatous Disease Reveals More Severe Integumentary Infections in X-Linked Compared With Autosomal Recessive Chronic Granulomatous Disease.慢性肉芽肿病的表型分析显示 X 连锁与常染色体隐性遗传慢性肉芽肿病相比，皮肤感染更严重。
Front Immunol. 2022 Jan 24;12:803763. doi: 10.3389/fimmu.2021.803763. eCollection 2021.
5
X-linked inheritance in females with chronic granulomatous disease.患有慢性肉芽肿病女性的X连锁遗传
J Clin Invest. 1980 Aug;66(2):332-40. doi: 10.1172/JCI109861.
7
Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients.89 例土耳其慢性肉芽肿病患者的临床、功能和基因特征。
J Allergy Clin Immunol. 2013 Nov;132(5):1156-1163.e5. doi: 10.1016/j.jaci.2013.05.039. Epub 2013 Jul 31.
8
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.
10
A variant form of X-linked chronic granulomatous disease with normal nitroblue tetrazolium slide test and cytochrome b.一种X连锁慢性肉芽肿病的变异形式，其硝基蓝四氮唑玻片试验和细胞色素b正常。
Eur J Clin Invest. 1983 Jun;13(3):243-8. doi: 10.1111/j.1365-2362.1983.tb00095.x.
引用本文的文献
1
The Role of NADPH Oxidase 2 in Leukocytes.NADPH氧化酶2在白细胞中的作用。
Antioxidants (Basel). 2025 Mar 4;14(3):309. doi: 10.3390/antiox14030309.
本文引用的文献
1
Allogeneic HSCT for Symptomatic Female X-linked Chronic Granulomatous Disease Carriers.女性 X 连锁慢性肉芽肿病携带者的异基因 HSCT。
J Clin Immunol. 2023 Nov;43(8):1964-1973. doi: 10.1007/s10875-023-01570-z. Epub 2023 Aug 24.
2
Genotype, oxidase status, and preceding infection or autoinflammation do not affect allogeneic HCT outcomes for CGD.基因型、氧化酶状态以及先前的感染或自身炎症反应并不影响慢性肉芽肿病（CGD）的异基因造血细胞移植（HCT）结果。
Blood. 2023 Dec 14;142(24):2105-2118. doi: 10.1182/blood.2022019586.
3
Efficacy and Safety of Interferon-Gamma in Chronic Granulomatous Disease: a Systematic Review and Meta-analysis.γ干扰素治疗慢性肉芽肿病的疗效与安全性：一项系统评价和荟萃分析
J Clin Immunol. 2023 Apr;43(3):578-584. doi: 10.1007/s10875-022-01391-6. Epub 2022 Nov 16.
4
A Review of Chronic Granulomatous Disease.慢性肉芽肿病综述。
Adv Ther. 2017 Dec;34(12):2543-2557. doi: 10.1007/s12325-017-0636-2. Epub 2017 Nov 22.
5
X-linked carriers of chronic granulomatous disease: Illness, lyonization, and stability.X 连锁慢性肉芽肿病携带者：疾病、莱昂化和稳定性。
J Allergy Clin Immunol. 2018 Jan;141(1):365-371. doi: 10.1016/j.jaci.2017.04.035. Epub 2017 May 18.
6
Residual NADPH oxidase and survival in chronic granulomatous disease.慢性肉芽肿病中残余烟酰胺腺嘌呤二核苷酸磷酸氧化酶与生存。
N Engl J Med. 2010 Dec 30;363(27):2600-10. doi: 10.1056/NEJMoa1007097.
7
Genetic, biochemical, and clinical features of chronic granulomatous disease.慢性肉芽肿病的遗传、生化及临床特征
Medicine (Baltimore). 2000 May;79(3):170-200. doi: 10.1097/00005792-200005000-00004.
Zotero 插件