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Adult onset X-linked chronic granulomatous disease in a woman patient caused by a de novo mutation in paternal-origin CYBB gene and skewed inactivation of normal maternal X chromosome.一名成年女性患者发生成人期发病的X连锁慢性肉芽肿病，由父源CYBB基因的新发突变和正常母源X染色体的偏态失活所致。
Intern Med. 2008;47(11):1053-6. doi: 10.2169/internalmedicine.47.0919. Epub 2008 Jun 2.

本文引用的文献

1
Macrophage activation syndrome/haemophagocytic lymphohistiocytosis secondary to complex septicaemia in an elderly female carrier of X-linked chronic granulomatous disease with extreme lyonisation: 'cepacia syndrome' revisited.巨噬细胞活化综合征/噬血细胞性淋巴组织细胞增生症继发于一名具有极端莱昂化现象的X连锁慢性肉芽肿病老年女性携带者的复杂性败血症：再探“洋葱伯克霍尔德菌综合征”
BMJ Case Rep. 2019 Aug 30;12(8):e230434. doi: 10.1136/bcr-2019-230434.
2
A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease.一个导致 CYBC1 缺陷的纯合功能丧失突变导致慢性肉芽肿病。
Nat Commun. 2018 Oct 25;9(1):4447. doi: 10.1038/s41467-018-06964-x.
3
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.
4
Chronic granulomatous disease.慢性肉芽肿病。
Hematol Oncol Clin North Am. 2013 Feb;27(1):89-99, viii. doi: 10.1016/j.hoc.2012.11.002. Epub 2012 Nov 22.
5
Complications of tumor necrosis factor-α blockade in chronic granulomatous disease-related colitis.肿瘤坏死因子-α 阻断在慢性肉芽肿病相关性结肠炎中的并发症。
Clin Infect Dis. 2010 Dec 15;51(12):1429-34. doi: 10.1086/657308. Epub 2010 Nov 8.
6
Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease.慢性肉芽肿病X连锁隐性和常染色体隐性形式中的突变。
Blood. 1996 Mar 1;87(5):1663-81.

Expanding the Clinical Phenotype of Chronic Granulomatous Disease: a Female Patient with a De Novo Mutation in CYBB.

作者信息

Wu Eveline Y, Kuehn Hye Sun, Rosenzweig Sergio D, Aksentijevich Ivona, McShane Diana B

机构信息

Department of Pediatrics, Division of Allergy, Immunology, Rheumatology, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.

Department of Laboratory Medicine, Clinical Center, NIH, Bethesda, MD, USA.

出版信息

J Clin Immunol. 2021 Jan;41(1):224-226. doi: 10.1007/s10875-020-00877-5. Epub 2020 Oct 1.

DOI:10.1007/s10875-020-00877-5
PMID:33006108
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7855407/
Abstract
摘要