Artículos de revistas
Hematologically important mutations: X-linked chronic granulomatous disease (third update)
Fecha
2010Registro en:
BLOOD CELLS MOLECULES AND DISEASES, v.45, n.3, p.246-265, 2010
1079-9796
10.1016/j.bcmd.2010.07.012
Autor
ROOS, Dirk
KUHNS, Douglas B.
MADDALENA, Anne
ROESLER, Joachim
LOPEZ, Juan Alvaro
ARIGA, Tadashi
AVCIN, Tadej
BOER, Martin de
BUSTAMANTE, Jacinta
CONDINO-NETO, Antonio
MATTEO, Gigliola Di
HE, Jianxin
HILL, Harry R.
HOLLAND, Steven M.
KANNENGIESSER, Caroline
KOKER, M. Yavuz
KONDRATENKO, Irina
LEEUWEN, Karin van
MALECH, Harry L.
MARODI, Laszlo
NUNOI, Hiroyuki
STASIA, Marie-Jose
VENTURA, Anna Maria
WITWER, Carl T.
WOLACH, Baruch
GALLIN, John I.
Institución
Resumen
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.