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

doi:10.1016/j.bcmd.2010.07.012

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

Blood cells, molecules & diseases - 15 Oct 2010

Roos Dirk, Kuhns Douglas B, Maddalena Anne, Roesler Joachim, Lopez Juan Alvaro, 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, Köker M Yavuz, Kondratenko Irina, van Leeuwen Karin, Malech Harry L, Marodi László, Nunoi Hiroyuki, Stasia Marie-José, Ventura Anna Maria, Witwer Carl T, Wolach Baruch, Gallin John I

Abstract excerpt

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...

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PMID: 20729109
DOI: 10.1016/j.bcmd.2010.07.012
PMCID: PMC4360070

Genes

CYBB

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