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.
Abstract
摘要
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本文引用的文献
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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”
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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.
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