@article{78d9e552af8c43a2b540011112def3ff,
title = "Hematologically important mutations: X-linked chronic granulomatous disease (third update)",
abstract = "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.",
keywords = "CYBB, Chronic granulomatous disease, Gp91, Mutation, NADPH oxidase, X-linked disease",
author = "Dirk Roos and Kuhns, {Douglas B.} and Anne Maddalena and Joachim Roesler and Lopez, {Juan Alvaro} and Tadashi Ariga and Tadej Avcin and {de Boer}, Martin and Jacinta Bustamante and Antonio Condino-Neto and {Di Matteo}, Gigliola and Jianxin He and Hill, {Harry R.} and Holland, {Steven M.} and Caroline Kannengiesser and K{\"o}ker, {M. Yavuz} and Irina Kondratenko and {van Leeuwen}, Karin and Malech, {Harry L.} and L{\'a}szl{\'o} Marodi and Hiroyuki Nunoi and Stasia, {Marie Jos{\'e}} and Ventura, {Anna Maria} and Witwer, {Carl T.} and Baruch Wolach and Gallin, {John I.}",
note = "Funding Information: We thank the CGD Research Trust, London, UK , for the financial support. LM thanks B. T{\'o}th (Debrecen) for the helpful contribution to this work. ACN thanks Edgar Borges de Oliveira Jr, PhD, for the excellent work, and Funda{\c c}{\~a}o de Amparo a Pesquisa do Estado de S{\~a}o Paulo for the financial support (FAPESP, Grant 2005/59568 ). This work was supported in part by the Slovenian Research Agency (Grant L3-0624 ). CK thanks Prof. M.A. Gougerot-Pocidalo for performing the Western blot analysis of NADPH oxidase subunits and measurement of respiratory burst in patients' polymorphonuclear neutrophils. DR thanks Dr. Paul Heyworth for providing information on unpublished mutations. Funding Information: This project has been funded in part with federal funds from the National Cancer Institute, National Institutes of Health , under Contract no. HHSN261200800001E . The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services, nor does mention of trade names, commercial products, or organizations imply endorsement by the U.S. Government.",
year = "2010",
month = oct,
doi = "10.1016/j.bcmd.2010.07.012",
language = "אנגלית",
volume = "45",
pages = "246--265",
journal = "Blood Cells, Molecules, and Diseases",
issn = "1079-9796",
publisher = "Academic Press Inc.",
number = "3",
}