title: [Chronic granulomatous disease diagnosis: Patients and carriers].
abstract: Chronic granulomatous disease (CGD) is a primary immunodeficiency, it has a defect in phagocytosis and its estimated incidence is 1 in 250,000 live births. Recurrent infections and granulomas are the most common clinical manifestations. CGD is caused by a functional defect in one of the subunits of the NADPH oxidase, the patients have mutations in NADPH genes. There are two patterns of transmission described in CGD, X-linked and autosomal recessive. The diagnosis of CGD is made by direct measurement of superoxide production, ferricytochrome c reduction, chemiluminescence, reduction of nitroblue tetrazolium or 1, 2, 3 dihydrorhodamine oxidation. After the diagnosis of CGD is important to identify the pattern of transmission in each case in order to provide genetic counseling to the patient's family, as well as inform Xlinked CGD carriers that have a major risk to develop autoimmune diseases. The 1, 2, 3, DHR help to identify the pattern of transmission and carriers of CGD Xlinked, it is considered as a screening method because of its easiness, sensitive and inexpensive cost.
authors.affiliation: Unidad de Investigación en Inmunodeficiencias. Instituto Nacional de Pediatría. México, D. F.
authors.forename: Nadia Gisela
authors.initials: NG
authors.lastname: Ramírez-Vargas
authors.forename: Laura R
authors.initials: LR
authors.lastname: Berrón-Ruiz
authors.forename: Renato
authors.initials: R
authors.lastname: Berrón-Pérez
authors.forename: Lizbeth
authors.initials: L
authors.lastname: Blancas-Galicia
mesh_terms: D006105:Granulomatous Disease, Chronic; D006579:Heterozygote; D006801:Humans; D019255:NADPH Oxidases; D009580:Nitroblue Tetrazolium; D013481:Superoxides
chemical_list: D013481:Superoxides; D009580:Nitroblue Tetrazolium; D019255:NADPH Oxidases