Article
Molecular characterization of a large cohort of patients with Chronic Granulomatous Disease and identification of novel CYBB mutations: an Italian multicenter study.
Molecular immunology - 1 Jun 2009
Di Matteo Gigliola, Giordani Lucia, Finocchi Andrea, Ventura Annamaria, Chiriaco Maria, Blancato Jan, Sinibaldi Cecilia, Plebani Alessandro, Soresina Annarosa, Pignata Claudio, Dellepiane Rosa Maria, Trizzino Antonino, Cossu Fausto, Rondelli Roberto, Rossi Paolo, De Mattia Domenico, Martire Baldassarre
Abstract excerpt
Chronic Granulomatous Disease (CGD) is a rare inherited disorder in which phagocytes fail to produce antimicrobial superoxide because NADPH oxidase activity is absent. In about 65% of the cases, the disease is due to mutations affecting the X-linked CYBB gene, encoding the gp91(phox) subunit of NADPH oxidase. We investigated 34 CGD male patients by DHPLC and direct sequencing. A mutation was found in the CYBB...
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