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Hematologically important mutations: X-linked chronic granulomatous disease (third update)

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收录情况： ◇ SCIE

作者：
Roos, Dirk[1,2] * ; Kuhns, Douglas B.[3] ; Maddalena, Anne[4] ; Roesler, Joachim[5] ; Alvaro Lopez, Juan[6] ; Ariga, Tadashi[7] ; Avcin, Tadej[8] ; de Boer, Martin[1,2] ; Bustamante, Jacinta[9,10] ; Condino-Neto, Antonio[11] ; Di Matteo, Gigliola[12] ; He, Jianxin[13] ; Hill, Harry R.[14,15,16,17] ; Holland, Steven M.[18] ; Kannengiesser, Caroline[19,20] ; Koker, M. Yavuz[21,22] ; Kondratenko, Irina[23] ; van Leeuwen, Karin[1,2] ; Malech, Harry L.[24] ; Marodi, Laszlo[25] ; Nunoi, Hiroyuki[26] ; Stasia, Marie-Jose[27] ; Ventura, Anna Maria[28] ; Witwer, Carl T.[14,15,16,17] ; Wolach, Baruch[29,30] ; Gallin, John I.[24] ;
机构： [1]Sanquin Res, NL-1066 CX Amsterdam, Netherlands; [2]Univ Amsterdam, Acad Med Ctr, Landsteiner Lab, NL-1066 CX Amsterdam, Netherlands; [3]SAIC Frederick Inc, NCI Frederick, Frederick, MD USA; [4]GeneDx, Gaithersburg, MD USA; [5]Univ Hosp Carl Gustav Carus, Dept Pediat, Dresden, Germany; [6]Univ Antioquia, Sch Microbiol, Medellin, Colombia; [7]Hokkaido Univ, Grad Sch Med, Dept Pediat, Sapporo, Hokkaido, Japan; [8]Univ Childrens Hosp, Dept Allergol Rheumatol & Clin Immunol, Ljubljana, Slovenia; [9]INSERM, U550, Lab Human Genet Infect Dis, Paris, France; [10]Univ Paris 05, Necker Med Sch, Paris, France; [11]Univ Sao Paulo, Inst Biomed Sci, Dept Immunol, Sao Paulo, Brazil; [12]Univ Roma Tor Vergata, Dept Publ Hlth & Cellular Biol, Rome, Italy; [13]Capital Med Univ, Beijing Childrens Hosp, Pediat Res Inst, Lung Funct Lab, Beijing, Peoples R China; [14]Univ Utah, Dept Pathol, Salt Lake City, UT USA; [15]Univ Utah, Dept Pediat, Salt Lake City, UT USA; [16]Univ Utah, Dept Med, Salt Lake City, UT USA; [17]ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USA; [18]NIAID, Lab Clin Infect Dis, NIH, Bethesda, MD 20892 USA; [19]Univ Paris 07, INSERM, Biomed Res Ctr Bichat Beaujon, F-75018 Paris, France; [20]Bichat Claude Bernard Hosp, AP HP, Hormonal Biochem & Genet Serv, F-75018 Paris, France; [21]Erciyes Univ, Immunol Lab, Kayseri, Turkey; [22]Erciyes Univ, Cappadocia Transplant Ctr, Kayseri, Turkey; [23]Russian Childrens Clin Hosp, Dept Clin Immunol, Moscow, Russia; [24]NIAID, Host Def Lab, Bethesda, MD 20892 USA; [25]Univ Debrecen, Med & Hlth Sci Ctr, Dept Infectiol & Pediat Immunol, Debrecen, Hungary; [26]Miyazaki Univ, Fac Med, Div Pediat, Dept Reprod & Dev Med, Miyazaki, Japan; [27]Univ J Fourrier, CNRS, Univ Hosp Grenoble,Therex TIMC Imag UMR 5525, Chron Granulomatous Dis Diag & Res Ctr, Grenoble, France; [28]Univ Bari, Dept Biomed & Dev Age, Bari, Italy; [29]Meir Med Ctr, Dept Pediat, Kefar Sava, Israel; [30]Meir Med Ctr, Lab Leukocyte Funct, Kefar Sava, Israel; [31]Sanquin Res, Plesmanlaan 125, NL-1066 CX Amsterdam, Netherlands
出处：
DOI： 10.1016/j.bcmd.2010.07.012
ISSN：

关键词： gp91(phox) Chronic granulomatous disease Mutation CYBB NADPH oxidase X-linked disease

摘要：
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. (C) 2010 Elsevier Inc. All rights reserved.

基金：
CGD Research Trust, London, UK; Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP)Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP) [2005/59568]; Slovenian Research AgencySlovenian Research Agency - Slovenia [L3-0624]; National Cancer Institute, National Institutes of HealthUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Cancer Institute (NCI) [HHSN261200800001E]
语种：
外文
被引次数：
WOS：
中科院(CAS)分区：
出版当年[2009]版：
大类 | 3 区 医学
小类 | 3 区 血液学
最新[2023]版：
大类 | 4 区 医学
小类 | 4 区 血液学
JCR分区：
出版当年[2008]版：
Q2 HEMATOLOGY
最新[2023]版：
Q3 HEMATOLOGY

影响因子： 最新[2023版] 最新五年平均 出版当年[2008版] 出版当年五年平均 出版前一年[2007版] 出版后一年[2009版]

第一作者：
第一作者机构： [1]Sanquin Res, NL-1066 CX Amsterdam, Netherlands; [2]Univ Amsterdam, Acad Med Ctr, Landsteiner Lab, NL-1066 CX Amsterdam, Netherlands;
通讯作者：
通讯机构： [1]Sanquin Res, NL-1066 CX Amsterdam, Netherlands; [2]Univ Amsterdam, Acad Med Ctr, Landsteiner Lab, NL-1066 CX Amsterdam, Netherlands; [31]Sanquin Res, Plesmanlaan 125, NL-1066 CX Amsterdam, Netherlands
推荐引用方式(GB/T 7714)：
Roos Dirk,Kuhns Douglas B.,Maddalena Anne,et al.Hematologically important mutations: X-linked chronic granulomatous disease (third update)[J].BLOOD CELLS MOLECULES AND DISEASES.2010,45(3):246-265.doi:10.1016/j.bcmd.2010.07.012.
APA：
Roos, Dirk,Kuhns, Douglas B.,Maddalena, Anne,Roesler, Joachim,Alvaro Lopez, Juan...&Gallin, John I..(2010).Hematologically important mutations: X-linked chronic granulomatous disease (third update).BLOOD CELLS MOLECULES AND DISEASES,45,(3)
MLA：
Roos, Dirk,et al."Hematologically important mutations: X-linked chronic granulomatous disease (third update)".BLOOD CELLS MOLECULES AND DISEASES 45..3(2010):246-265

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