Hematologically important mutations: X-linked chronic granulomatous disease (third update).
Hematologically important mutations: X-linked chronic granulomatous disease (third update).
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DOI：
10.1016/j.bcmd.2010.07.012
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发表时间：
2010-10-15
影响因子：
2.3
通讯作者：
Gallin, John I.
中科院分区：
文献类型：
--
作者：
Roos, Dirk;Kuhns, Douglas B.;Maddalena, Anne;Roesler, Joachim;Alvaro Lopez, Juan;Ariga, Tadashi;Avcin, Tadej;de Boer, Martin;Bustamante, Jacinta;Condino-Neto, Antonio;Di Matteo, Gigliola;He, Jianxin;Hill, Harry R.;Holland, Steven M.;Kannengiesser, Caroline;Koker, M. Yavuz;Kondratenko, Irina;van Leeuwen, Karin;Malech, Harry L.;Marodi, Laszlo;Nunoi, Hiroyuki;Stasia, Marie-Jose;Ventura, Anna Maria;Witwer, Carl T.;Wolach, Baruch;Gallin, John I.
慢性肉芽肿性疾病(CGD)是一种免疫缺陷疾病，每25万人中就有1人受到影响。这种疾病是由于白细胞酶NADPH氧化酶缺乏产生超氧化物所致。超氧化物被用来杀死中性粒细胞、嗜酸性粒细胞、单核细胞和巨噬细胞中吞噬的微生物。白细胞NADPH氧化酶由五个亚基组成，其中酶组分为gp91-Phox，也称为NOX2。该蛋白由×染色体上的CYBB基因编码。在所有CGD患者中，约有70%发现了该基因的突变。这篇文章列出了在X-连锁形式的CGD中发现的所有在CYBB中的突变。此外，还给出了明显良性的CYBB基因多态，这应该有助于识别未来的致病突变。
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 × 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.
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影响因子：
20.3
作者：
Condino-Neto, A;Newburger, PE
通讯作者：
Newburger, PE
DOI：
10.1016/j.bbadis.2009.01.005
发表时间：
2009-03-01
影响因子：
6.2
作者：
Defendi, Federica;Decleva, Eva;Stasia, Marie Jose
通讯作者：
Stasia, Marie Jose
影响因子：
5.3
作者：
Bionda, C;Li, XJ;Stasia, MJ
通讯作者：
Stasia, MJ
DOI：
10.1006/clin.1993.1078
发表时间：
1993-06-01
期刊：
CLINICAL IMMUNOLOGY AND IMMUNOPATHOLOGY
影响因子：
--
作者：
CURNUTTE, JT
通讯作者：
CURNUTTE, JT
影响因子：
9.8
作者：
Brouha, B;Meischl, C;Kazazian, HH
通讯作者：
Kazazian, HH